New gene therapy delivers treatment directly to brain

When Rylae-Ann Poulin was a year old, she didn’t crawl or babble like other kids her age. A rare genetic disorder kept her from even lifting her head. Her parents took turns holding her upright at night just so she could breathe comfortably and sleep.

Then, months later. doctors delivered gene therapy directly to her brain.

Now the 4-year-old is walking, running, swimming, reading and riding horses — “just doing so many amazing things that doctors once said were impossible,” said her mother, Judy Wei.

Rylae-Ann, who lives with her family in Bangkok, was among the first to benefit from a new way of delivering gene therapy — attacking diseases inside the brain — that experts believe holds great promise for treating a host of brain disorders.

Her treatment recently became the first brain-delivered gene therapy after its approval in Europe and the United Kingdom for AADC deficiency, a disorder that interferes with the way cells in the nervous system communicate. New Jersey drugmaker PTC Therapeutics plans to seek U.S. approval this year.

Meanwhile, about 30 U.S. studies testing gene therapy to the brain for various disorders are ongoing, according to the National Institutes of Health. One, led by Dr. Krystof Bankiewicz at Ohio State University, also targets AADC deficiency. Others test treatments for disorders such as Alzheimer’s, Parkinson’s and Huntington’s.

Challenges remain, especially with diseases caused by more than a single gene. But scientists say the evidence supporting this approach is mounting — opening a new frontier in the fight against disorders afflicting our most complex and mysterious organ.

“There’s a lot of exciting times ahead of us,” said Bankiewicz, a neurosurgeon. “We’re seeing some breakthroughs.”

The most dramatic of those breakthroughs involve Rylae-Ann’s disease, which is caused by mutations in a gene needed for an enzyme that helps make neurotransmitters like dopamine and serotonin, the body’s chemical messengers. The one-time treatment delivers a working version of the gene.

At around 3 months old, Rylae-Ann began having spells her parents thought were seizures — her eyes would roll back and her muscles would tense. Fluid sometimes got into her lungs after feedings, sending her to the emergency room. Doctors thought she might have epilepsy or cerebral palsy.

Around that time, Wei’s brother sent her a Facebook post about a child in Taiwan with AADC deficiency. The extremely rare disorder afflicts about 135 children worldwide, many in that country. Wei, who was born in Taiwan, and her husband, Richard Poulin III, sought out a doctor there who correctly diagnosed Rylae-Ann. They learned she could qualify for a gene therapy clinical trial in Taiwan.

Though they were nervous about the prospect of brain surgery, they realized she likely wouldn’t live past 4 years old without it.

Rylae-Ann had the treatment at 18 months old on November 13, 2019 — which her parents have dubbed her “reborn day.” Doctors delivered it during minimally invasive surgery, with a thin tube through a hole in the skull. A harmless virus carried in a functioning version of the gene.

“It gets put into the brain cells and then the brain cells make the (neurotransmitter) dopamine,” said Stuart Peltz, CEO of PTC Therapeutics.

Company officials said all patients in their clinical trials showed motor and cognitive improvements. Some of them, Peltz said, could eventually stand and walk, and continue getting better over time.

Bankiewicz said all 40 or so patients in his team’s NIH-funded study also saw significant improvements. His surgical approach is more involved and delivers the treatment to a different part of the brain. It targets relevant circuits in the brain, Bankiewicz said, like planting seeds that cause ivy to sprout and spread.

“It’s really amazing work,” said Jill Morris, a program director with the National Institute of Neurological Disorders and Stroke, which helped pay for the research. “And he has seen a lot of consistency between patients.”

One is 8-year-old Rian Rodriguez-Pena, who lives with her family near Toronto. Rian got gene therapy in 2019, shortly before her 5th birthday. Two months later, she held her head up for the first time. She soon started using her hands and reaching for hugs. Seven months after surgery, she sat up on her own.

“When the world was crumbling around us with COVID, we were at our house celebrating like it was the biggest party of our lives because Rian was just crushing so many milestones that were impossible for so long,” said her mom, Shillann Rodriguez-Pena. “It’s a completely different life now.”

Scientists say there are challenges to overcome before this approach becomes widespread for more common brain diseases.

For example, the timing of treatment is an issue. Generally, earlier in life is better because diseases can cause a cascade of problems over the years. Also, disorders with more complex causes — like Alzheimer’s — are tougher to treat with gene therapy.

“When you’re correcting one gene, you know exactly where the target is,” said Morris.

Ryan Gilbert, a biomedical engineer at New York’s Rensselaer Polytechnic Institute, said there can also be issues with the gene-carrying virus, which can potentially insert genetic information in an indiscriminate way. Gilbert and other researchers are working on other delivery methods, such as messenger RNA – the technology used in many COVID-19 vaccines – to deliver a genetic payload to the nucleus of cells.

Scientists are also exploring ways to deliver gene therapy to the brain without the dangers of brain surgery. But that requires getting around the blood-brain barrier, an inherent roadblock designed to keep viruses and other germs that may be circulating in the bloodstream out of the brain.

A more practical hurdle is cost. The price of gene therapies, borne mostly by insurers and governments, can run into the millions. The one-time PTC therapy, called Upstaza, costs more than $3 million in Europe, for example.

But drugmakers say they are committed to ensuring people get the treatments they need. And researchers are confident they can overcome the remaining scientific obstacles to this approach.

“So I would say gene therapy can be leveraged for many sorts of brain diseases and disorders,” Gilbert said. “In the future, you’re going to see more technology doing these kinds of things.”

The families of Rylae-Ann and Rian said they hope other families dealing with devastating genetic diseases will someday get to see the transformations they’ve seen. Both girls are continuing to improve. Rian is playing, eating all sorts of foods, learning to walk and working on language. Rylae-Ann is in preschool, has started a ballet class, and is reading at a kindergarten level.

When her dad picks her up, “she runs to me … just gives me a hug and says, ‘I love you, Daddy.’ he said. “It’s like it’s a normal day, and that’s all we ever wanted as parents.”

Organizations Rally to Help Ukrainian Rare Disease Patients

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave.

The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult, Zamorska recently told BioNews, Inc., the publisher of this website. The journey and transition have been especially challenging for her son Andrii, who has epidermolysis bullosa (EB) and is mostly bedridden because of his fragile, blistering skin.

Patients with EB need boxes of backup bandages to treat wounds, heaters to stay warm because of thin skin, and a blender to soften food because of scarring in the mouth and esophagus. Zamorska said that 24/7 care is needed for people with more aggressive forms of EB, such as 19-year-old Andrii, who has severe generalized recessive dystrophic EB.

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‘Waking up for the first time.’ Can a new gene therapy change some children’s lives?

Five-year-old Boston Yannotti’s ear-to-ear smile masks what has been an extremely difficult childhood. The young boy, with reddish-brown hair and bright blue eyes like his mother, has been confined within the walls of his house for much of his life, unable to experience the world around him. A trip to the beach or the playground is all but impossible. In fact, simply holding his head up is a herculean task.

That’s because Boston suffers from an ultra-rare disease called AADC deficiency — a genetic disease that stops his brain from producing serotonin and dopamine, a chemical that moves electric signals through the brain and, in turn, controls bodily movement. “He’s been a prisoner in his own body,” his father, Michael Yannotti, said from their home near the Dan River in Eden, a small town around 100 miles northwest of Raleigh. “But he’s the strongest little fighter and still has the biggest smile you will ever see.”

Without the ability to produce dopamine, Boston can’t feed himself, sit upright or communicate. He’s prone to fits of oculogyric crises, which send his eyes upward and his muscles into painful spasms for hours. His small body, pale from a lack of sunlight, is stiff from a lack of use.

His parents, Michael, 26, and Claudia Moore, 25, live in constant fear of him catching a cold, flu or COVID-19 because he struggles to clear his lungs of liquid.

But that could all be about to change. In January, Boston received an experimental gene-therapy for children with AADC deficiency. If successful, his parents and scientists hope, Boston could begin to take control of his body for the first time. The two-way communication between the brain and the body could begin to work.

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University College London begins preclinical studies to develop a treatment for Niemann Pick C disease with support from the Columbus Foundation

Madrid, February, 2021.- A new treatment for the rare and fatal neurodegenerative disease Niemann Pick C is closer. University College London (UCL) has just started a preclinical study that will make it possible in the future to apply gene therapy to patients in a clinical trial. This project is done in collaboration with the Columbus Foundation (FC)/Columbus Children’s Foundation (CCF), Viralgen Vector Core and UK MRC (UK Medical Research Council)

Niemann Pick disease type C (NP-C) is an inherited lysosomal storage disorder, in which the systemic accumulation of intracellular lipids leads to a progressive and fatal disorder. “It is an inherited disease caused by a defect in the proteins that transport cholesterol. This defect is caused in 95% of cases by mutations in the NPC1 gene, resulting in accumulation of cholesterol and other fats in the liver, spleen or lungs. Neurological symptoms such as clumsiness in walking, difficulties in swallowing and eating, usually appear later in disease “, explains the president of the Columbus Foundation, Damià Tormo.

Healing through gene therapy: replacing the faulty gene

Frequently this pathology manifests itself in an early age and affects one in every 100,000 people. It is a rare disease for which there is little research in the world. One research group is at University College London (UCL), led by Prof. Ahad Rahim. So far, studies in Prof. Rahim’s laboratory, applying adeno-associated virus (AAV) –mediated gene therapy as a vector carrying the correct gene have shown therapeutic benefit in preclinical studies. “Currently there are no good treatments for this disease and the premature death in these children makes it necessary to find an effective treatment urgently. Prof. Rahim’s group has shown that gene therapy can be a way of hope for these patients and our challenge is to help this research until a treatment is achieved,” adds Tormo.

AAV-mediated gene therapy has great potential to treat NP-C by preventing or slowing neurodegeneration and subsequent fatal neurological disease. “During previous studies in animals, we have shown that direct administration to the brain of an AAV9 vector expressing the human NPC1 gene in neurons has allowed the long-term prevention of neurological symptoms accompanied by the prolongation of the animal’s life. With this new phase of research, we want to improve therapeutic efficacy and move towards the preparation for clinical trials in patients “, explains Prof. Ahad Rahim. “Our challenge is to bring this new gene therapy to Niemann-Pick type C1 (NPC1) patients within a few years“, he concludes.

Viral vectors created in Spain

For the manufacture of the treatment, UCL has FC/CCF as an ally and the support for years from the Association Niemann-Pick Fuenlabrada. Funding for these new activities to be carried out took place around an initiative called “Marta’s trip”. Marta is a girl affected by NPC and her family promoted an activity together with the FC/CCF that managed to raise enough money to undertake this project. In this way, the Foundation will have access to the production of viral vectors and also funding from the UK MRC to help carry out toxicology studies, which represents an important boost to the work plan of Prof. Rahim’s team. The gene therapy vector will be manufactured at Viralgen Vector Core, which is one of the world’s leading companies in the manufacture of viral vectors domiciled in San Sebastián, thanks to the agreement that the Foundation has with this company. Under this agreement, Viralgen provides its knowledge, access to capacity and manufacturing of AAV vectors at a significant discount for clinical programs in rare diseases for which there is limited commercial therapeutic availability. “This contribution of material by FC/CCF and Viralgen is a key and necessary advance to be able to bring the drug to our children since it is one of the great bottlenecks in this project“, comments Marta’s father, Ignacio de la Serna.

Partnerships to develop drugs against rare diseases

FC and their US based sister foundation, CCF, have already made important advances to accelerate other treatments for rare diseases with gene therapy, such as L-amino acid aromatic decarboxylase deficiency (AADC deficiency) or infantile Parkinson’s disease. To date, more than 25 children from around the world have received treatment in the centers in Europe and the US with excellent results that have radically improved their quality of life and that of their families. In addition, the organization has already sealed several alliances with other associations with the aim of promoting internal research programs that currently exist for rare diseases and providing therapeutic access to affected people. For example, we have developed exciting partnerships with the American NGO Cure Rare Disease, the Canadian NGO CureSPG50, and the New York-based biotech company Phoenix Nest to address Sanfilippo type C disease, among others.

The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Thirty-three MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomized controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. The Medical Research Council is part of UK Research and Innovation.

Her Body was a prison: How a new gene therapy change the lives of two Canadian girls

TORONTO — A new gene therapy for an extremely rare disorder has offered two Canadian children a new chance at life, allowing them to move on their own after years of being trapped within their own bodies.
The disease is called AAV deficiency, and known more commonly as ‘pediatric Parkinson’s’. It’s a debilitating genetic disorder that effectively cuts off communication between cells in the nervous system, affecting movement

For Rian, a little girl from Toronto, this meant that at four years old, her body was still like a newborn’s — she couldn’t support her own head, eat on her own, or play the way other children could.
“She had absolutely no functional, purposeful movement,” Rian’s mother, Shillann Rodriguez-Pena, told CTV News. “It essentially was like her body was a prison that she was trapped in. And we could see the sparkle in her eye, we could always see that she was in there and the desperation of trying to get her out, and how to help her out — it was torturous, truthfully.”

Those who have pediatric Parkinson’s also suffer from episodes called oculogyric crises (OGC), in which they experience muscle spasms, uncontrollable rolling of the eyes, agitation and even pain.
In a post on her Facebook documenting Rian’s journey battling this disease, Rodriguez-Pena wrote that Rian suffered from OGCs every three to four days, and that her episodes lasted up to eight hours.
Rodriguez-Pena told CTV News that it was hard to see her daughter suffer.
“She was going through panic attacks and just the sheer frustration of wanting to
do something and her body not allowing her to,” she said. “Because cognitively, she understands so much.”
Historically, there has been no treatment, just disability and an early death, with the disease often proving fatal.

But in September of 2019, Rian became one of the first recipients of an experimental gene therapy. And within weeks of treatment, she began to move. First it was just her head. Then she could hold objects. Now, at six years old, she can sit on her own. And her mother is blown away. “It really is modern day miracle stuff,” she said. “It really is. The science is absolutely miraculous. “We prayed for years […] to be able to see it for our girl, and it’s incredible.”

In a recent video of Rian’s progress, posted in January, she opens a cupboard door on her own while sitting on the floor in her family’s kitchen. Smiling and laughing, she spins around and reopens the cupboard a few times while her mother, filming, narrates. “New skill alert!” her mother praises her in the video. “Are you so proud you figured that out?”

And after the treatment, those paralyzing seizures never returned. It’s incredible progress, according to Dr. Saadet Andrews, one of many doctors who used to treat Rian in the early years of her life, when she was in and out of the hospital constantly.

“The improvements since the gene therapy is amazing,” he said. “She keeps improving very quickly. To give you an example, from […] nine months to almost four years of age, she didn’t do anything. And from a few months of the gene therapy, she just started holding her head and then started slowly sitting up to show us some great improvements.”

How the new gene therapy works is that the genes needed to restore movement are actually put into AAV viruses, and then injected deep into the brain. Once there, the DNA is taken up by cells, and starts correcting the defect.

The therapy is so new that only 23 children worldwide have received this treatment. All of them were treated by Dr. Krystof Baniewicz, one of the world’s leading experts in pediatric Parkinson’s.
“I never expected this to be to be as significant as what we are seeing,” Bankiewicz told CTV News.
Bankiewicz is a professor and the director of the Brain Health and Performance Center at the Ohio State University College of Medicine. He described the first ideas that would eventually become this gene therapy in a paper 25 years ago.

“[I’ve] devoted decades of my life to develop this technology and [I’m] very, very pleased that they can change people’s lives,” he said.

“Without the gene therapy, they would have never been able to achieve the milestones which they have had so far.”

One of the big positives it that so far, it appears that only one treatment is necessary.
“It’s a one-time treatment, as far as I can tell,” Bankiewicz said. “No one has plateaued, they keep on improving.”

Rian isn’t the only Canadian to have benefitted from this new therapy. A seven-year-old in Vancouver, B.C., is now learning to walk after her life-changing treatment.
Jasmine suffered from OGC up to three times a week before her surgery, her parents told CTV News in an email.

“Our life was dark,” her father, Seila Hok wrote, adding that he had no time to think of his own health, only his daughter’s. He and his wife would take turns to sleep at night so that one of them could keep an eye on Jasmine and make sure she was okay. They suffered abusive comments from their community for having “a kid like Jasmine,” which was heartbreaking for them.

The family was able to send Jasmine to receive the new gene therapy in Ohio as part of a clinical trial funded by the lab.

It’s been 18 months since she received the therapy, and Jasmine is “a different Jasmine,” according to her family.

“She is happier, healthier,” Hok said, adding that she no longer suffers from OGCs, and is able to sit, roll around and eat.

A recent video of Jasmine shows her sitting on an exercise ball on her own, smiling, and vocalizing and grabbing a toy.

In another video sent by the family, she is being trained to walk.

Dr. Bankiewicz is awaiting publication of his preliminary study in the coming weeks.
But although this new therapy is extremely promising, there are still numerous barriers to delivering this care, one of them being cost. Therapies for rare diseases aren’t profitable, so all this is funded by donations, fund raising and charities, with many other children waiting for treatment.

Rian received her gene therapy not in the U.S., but in Poland, where Bankiewicz — who is originally from Poland — was offering surgeries as part of “compassionate use” clinical trials for those who could not wait for the therapy to be offered in the U.S.

“Although it was a risky surgery — it was an eight and a half hour brain surgery in
a foreign country — the risks associated to not having the surgery were far more terrifying,” Rodriguez-Pena said.

She added that it cost the family 45,000 euros — just under $68,000 — to make the trip for the treatment which Dr. Banks says was done not for profit. Some of it was their own savings, while some was raised through websites like GoFundMe.

“And that’s actually quite a modest price,” she said. “Because when you look at other rare diseases such as [spinal muscular atrophy], the price point is astronomically larger.”

Some charities, such as the Columbus Children’s Foundation (CCF), help families battling rare diseases to gain access to new treatments like this one. AAV deficiency is one of the ultra-rare diseases that CCF is trying to help cure by supporting new therapies.

“We want to make sure that what happen to Jasmine and Rian happens for other children,” Laura Hameed, executive director of CCF, told CTV News in a phone call.

“These therapies are clinically promising, but don’t get the interest of the biotech industry because they are too small, so non-profit is the best way to make sure they are advanced.”

Another barrier is that so few people are aware of these type of diseases. And that’s one reason that families like Jasmine and Rian’s are coming forward to share their stories.

“There’s only 130 kids approximately in the world with our disease,” Rodriguez-Pena said. “And the fact that there was a treatment that could so drastically change [Rian’s] quality of life — I feel like there’s a lot of value in sharing that story.”

“There are still so many kids with AAV disease [who] need to get surgery,” Hok said, adding that the most important thing is for others to learn about this disease and about the new gene therapy that can turn things around.

These families have had their childrens’ lives transformed for the better — and now they’re hoping to help others transform young lives too.

“I think gene therapy as a technology and medical procedure is gaining [a] tremendous amount of acceptance right now, and I think success is being seen in multiple diseases,” Bankiewicz said. “There are also other disorders outside of the brain which could benefit from this technology.”

He’s already working on trying to apply this gene therapy to adults with Parkinsons, and hopes that they can expand the current gene therapy to additional sites, so more children can be helped.

Rodriguez-Pena said that the family thinks of Rian’s surgery day as almost a second birthday.
“It’s as if she was reborn in so many ways,” she said.

After she was treated, Rian got a puppy, who happened to be born on the same day that she had her surgery.

So what is the puppy’s name? “Banks”, of course, after the doctor who performed the miracle procedure.

Columbus Children’s Foundation (CCF) and Viralgen Vector Core announce “Target 10” Program

Organizations unite to develop effective gene therapy treatments bytaking aim at accelerating treatments for ten rare diseases 

San Sebastian, Spain and Raleigh, NC (February 25, 2021) – Columbus Children’s Foundation (CCF), an international childhood rare disease foundation with the mission to accelerate access to the most effective gene therapy cures for children suffering from ultra-rare diseases and Viralgen Vector Core, a leading manufacturer of AAV vectors for gene therapy, announce the Target10 Program with the aim to facilitate and accelerate the advancement of 10 programs to address 10 diseases in order ensure equitable access to potentially curative treatments for all known to have them within 10 years. 

The Columbus Children’s Foundation (CCF) along with its’ Europe based sister foundation, Fundación Columbus, is known for its translational role in the acceleration of gene therapy programs bringing hope to children with ultra-rare diseases. In addition to advancing its own programs for ultra-rare diseases.  CCF develops strategic partnerships with key biotech organizations, like Viralgen Vector Core, to provide needed expertise, access to highly sought manufacturing capacity, and significantly discounted Adeno-associated viral vector (AAV) manufacturing in order to accelerate curative treatments for ultra-rare programs for which there is limited commercial therapeutic value. 

Gene therapy is a type of treatment that uses genes to treat or prevent disease.  The gene is introduced into the body encapsulated in a modified virus (AAV) that acts like a vehicle to deliver the gene it carries to specific organs or tissues. This type of therapy offers a new and realistic potential of healing for rare genetic diseases.

While individually, rare diseases have very small patient populations, collectively rare diseases impact over 300 million people worldwide. And, 50% of those diagnosed with rare diseases are children. The impact these diseases have on patients, their families and society is profound, as many are serious, chronic and progressive, leading to limited life expectancy. Three out of ten diagnosed children will not live to see get fifth birthday and CCF is deeply driven by the urgency to change those odds through accelerating cures for these children so they are not left behind when science can put a cure in reach.

The Target10 Program announced today by CCF and Viralgen is a revolutionary and ambitious program that was created with  the  aim of developing up to  ten new effective gene therapy treatments for ten rare diseases over the next ten years. The Target10 Program emphasizes the need to bring together the right resources and expertise to accelerate development of promising research and clinical programs and aims to focus on tackling ultra-rare program development with greater efficiency. Using a non-profit approach, the Target10 Program will identify and seek to advance programs with the best chance to create successful treatments for ultra-rare diseases where currently there are no known cures. The Target10 Program seeks to remove barriers to manufacturing which are seen as the most significant specific hurdle for small patient population programs poised to translate from the lab to the clinic where children can be treated. The Target10 Program will bring together great science and translational capabilities to deliver curative treatments for children who need them most. 

As a major contributor and strategic partner of CCF, Viralgen has shown clear commitment and has become a leader in advancing programs for children through lending its knowledge and manufacturing capacity to CCF driven ultra-rare disease programs. Because of today’s announcement of the Target10 Program, the AAV vectors produced by Viralgen within this Program, will be even more affordable and more accessible.

“CCF is deeply driven by the urgency to ensure equitable access to the most effective treatments for children with ultra-rare diseases. We believe no children should be left behind when science could put a cure in reach and we cannot thank Viralgen enough for this exceptionally generous and valuable contribution that will help with our mission to accelerate treatments for these children who not only fight against a life-threatening disease, but also fight against time,” commented on the Laura Hameed, Director of the Columbus Children’s Foundation

Currently, CCF is already facilitating the development of therapies for seven rare diseases: L-Decarboxylase Aromatic Amino Acid Deficiency(AADC) which is also commonly referred to as pediatric Parkinson’s and currently in clinical trials; Spastic Paraplegia Type 50 (SPG50), Mucopolysaccharidosis III (Sanfilippo Type C) and an extremely rare Duchenne Muscular Dystrophy mutation which are all in manufacturing; and is supporting pre-clinical programs including Niemann-Pick A, Niemann-Pick C, among others.  To advance these programs, CCF partners with industry, disease specific foundations and leading research centers to accelerate the development of these critical therapies.

For the selection of diseases to be included in the Target10 Program, CCF uses an international panel of experts to help determine program selection according to criteria of scientific excellence, absence of key development initiatives due to low commercial interest, team experience, and quality of the development plan.

Viralgen’s participation in the Target10 Program is a cornerstone to the program’s success. The production of viral vectors is a major bottleneck in the development of gene therapy projects for these small patient programs and having the support of Viralgen will make it possible to achieve the ambitious goals related to the Target10 Program. The partnership of Viralgen will lead to cost savings of several million dollars per program compared to commercial costs and over 12-24 months of time savings. Manufacturing is one of the most difficult steps of this process and working with an industry leader will help close the rare disease gap for families of children with rare diseases.  Javier García, CEO of Viralgen commented, “we are delighted to be able to contribute to this ambitious Target10 Program that will bring so much hope to many families with children suffering from devastating diseases. We believe this is a highly effective and powerful model of collaboration for ultra-rare programs that lack interest through traditional investment by the private sector.”

Through key partnerships, like the Target10 Program with Viralgen, CCF is working toward establishing an ecosystem that society can use to develop therapeutics for ultra-rare diseases using a nonprofit approach that has both science and compassion at its core. Today, with this announcement, we are one step closer to the goal of working toward having treatments for the many diseases that have no known treatments today.

About Viralgen

Founded in 2017 in the Gipuzkoa Science and Technology Park (San Sebastian, Spain) by American pharmaceutical company AskBio and venture capital management company Columbus Venture Partners, Viralgen is a biotech company with unique characteristics in the world. Virgalgen  is a leading CDMO that develops and manufactures adeno-associated vectors (AAVs) for clinical trials and for the large-scale production of new medical treatments in the growing gene therapy market. At the end of  2020  Bayer AG acquired Viralgen in an operation that drives growth and expansion plans in San Sebastian. With the construction of a second facility that will come into operation in early  2022, Viralgen will become a global benchmark in the manufacture of viral vectors and is positioned to respond to the challenge of manufacturing on an industrial scale the products that are now in the clinical trial phase and that will be marketed  in the coming years.

About Columbus Children’s Foundation (CCF)

The Columbus Foundation was initially established in Valencia, Spain in 2017 and expanded into the United States as Columbus Children’s  Foundation, a Raleigh-Durham based non-profit 501 ( c)(3) organization.  CCF’s mission is to ensure equitable and affordable access to the most effective gene therapy solutions for children with ultra-rare diseases. CCF uses its nonprofit model to partner and accelerate gene therapy treatments for programs with small patient populations that are often overlooked because the economics don’t add up for those using a traditional development model. In addition to its work to develop cures, the Columbus Foundation uses culture as an ally to spread its activity and help raise funds. It schedules benefit concerts in which top artists participate in order to advance understanding and awareness for the needs of these children.


Organizations unite with world-class scientific and AAV technology leaders to find a cure for life-altering and fatal ultra-rare disease

Brooklyn, NY and Raleigh, NC (Oct 28, 2020)—Phoenix Nest, a New York based biotechnology company will partner with Columbus Children’s Foundation (CCF) to advance the development and manufacturing of a potential gene therapy treatment for Sanfilippo syndrome type C, an ultra-rare metabolic disorder, also referred to as MPS IIIC. 

It is estimated that only 1 in a million children are born with MPS IIIC with less than 500 children worldwide known to have this devastating disease. Individuals affected by this type of Sanfilippo syndrome lack a single enzyme necessary to break down long chains of sugar molecules called mucopolysaccharides (also known as glycosaminoglycans or GAGs). These GAGs are left to build up in every cell of the body causing catastrophic effects to the CNS and throughout the body. Children appear normal at birth and it isn’t until the children fail to meet typical milestones that parents become worried. As the disease progresses, children lose all their skills including the ability to talk, walk, and swallow. The disease is terminal and there is no current treatment.

“MPS IIIC, like many ultra-rare diseases, is not being addressed by large biotech and pharma companies due to small patient populations and the significant investment required for research, development and manufacturing,” commented Laura Hameed, Columbus Children’s Foundation managing director. “This is the basis for our mission and the formation of a nonprofit biotech foundation focused on accelerating development and access to curative gene therapies for children with ultra-rare genetic conditions at an more affordable cost that does not lead to access issues.”

Phoenix Nest founder and Chief Financial Officer, Jill Wood, is a fierce patient advocate and mother whose son Jonah, along with approximately 500 children around the world, suffer from this rare condition.  Jill, along with her husband Jeremy Weishaar and a renowned scientific advisory board, have facilitated and funded research for potential enzyme replacement therapies (IIID), chaperone therapy (IIIC) and stem cell/gene therapy (IIIB).

According to Ms. Wood, “Like many small biotechs, we lack the funding and expertise to advance potential treatments and cures for this devastating disease, but we know a cure is in sight. Working collaboratively with the Columbus Children’s Foundation, we will gain access to world-class scientific and manufacturing expertise, saving millions of dollars and time, a luxury my son Jonah and many children like him do not have.”

The partnership between CCF and Phoenix Nest is a leading example of the effort needed to bridge the translational gap that slows or impedes many rare disease programs with curative potential. The nonprofit biotechnology foundation model pioneered by CCF plays an important role in the rare disease ecosystem by partnering with leading researchers and contract development and manufacturing organizations (CDMOs). These include companies such as Viralgen Vector Core, a leading manufacturer of adeno-associated virus (AAV) medicines, and Asklepios BioPharmaceutical (AskBio), a company revolutionizing life-saving gene therapeutics and genetic medicine technology.

“This is the third program we will put into development or manufacturing in the last two months,” according to Hameed. “This partnership reflects exceptional progress toward our goal of accelerating treatments for programs that are scientifically promising, but not commercially viable. We believe no child should be left behind when cures are in reach and are thrilled to partner with organizations like Phoenix Nest to advance our mission to bring gene therapy cures to children with the urgency they deserve.”

About Columbus Children’s Foundation (CCF)

CCF’s mission is to ensure equitable and affordable access to the most effective gene therapy solutions for children with ultra-rare genetic diseases. CCF uses a nonprofit model to partner and accelerate gene therapy treatments for programs with very small patient populations that are often overlooked because the economics don’t add up for those using a traditional commercial development model. Through strategic partnerships with other foundations, industry leaders, patient groups and philanthropic donors; CCF aims to bring the scientific and funding resources together on behalf of the children and families who must endure the devastating outcomes of ultra-rare diseases. CCF accelerates hope and transforms the lives of those fighting these devastating diseases.  Learn more at 

About Phoenix Nest

Phoenix Nest is a bespoke virtual biotech with one mission, to provide a treatment for the children suffering from Sanfilippo syndrome. Founded by a mother of a Sanfilippo child, Phoenix Nest has sponsored various research initiatives with leading scientists and medical experts to find treatments and cures for all types Sanfilippo syndrome. Led by parents of children with Sanfilippo syndrome, the company operates first and foremost in the best interest of children in critical need for a cure.


Toronto, Canada and Raleigh, NC (Sept 15, 2020)—CureSPG50, a Toronto based charity with the mission to develop a cure for the ultra-rare disease Spastic Paraplegia 50 (SPG50) and Columbus Children’s Foundation, a non-profit biotech foundation with the mission to accelerate access to the most effective gene therapy cures for children with ultra-rare diseases, announce a strategic partnership related to accelerating the production of AAV vector needed to advance the curative treatment into the clinic.

Columbus Children’s Foundation (CCF), is a nonprofit biotech known for its translational role in the acceleration of gene therapy programs bringing hope to children with ultra-rare genetic diseases. In addition to advancing its internal programs for ultra-rare diseases, CCF partners with contract development and manufacturing organizations (CDMOs) such as Viralgen Vector Core (VVC), a leading manufacturer of Adeno-associated virus (AAV) vectors for gene therapy, to provide expertise, access to capacity and significantly discounted Adeno-associated viral vector (AAV) manufacturing for ultra-rare diseases for which there’s limited commercial therapeutic availability.

CureSPG50 is a parent driven foundation founded by Terry Pirovolakis and his wife Georgia to find and advance a cure for their youngest son Michael, as well as the more than 60 other children worldwide diagnosed with the ultra-rare, neurodegenerative disease – Spastic Paraplegia 50 (SPG50). SPG50 is robbing them of the ability to use their limbs and severely affects and degrades their mental capacity. Michael was diagnosed with the disease as an infant and at the time doctors said there was no treatment available and advised both Terry and Georgia that the best they could do was to go home and love their child. As parents they could not sit back and watch Michael deteriorate, instead they decided to search the world for a cure. The mission of CureSPG50 is to help children affected by SPG50 and other neurodegenerative diseases by leveraging Gene Replacement Therapy to replace the defective gene with a working one.

“As parents we are willing to do anything, go anywhere and give up everything to save our child,” says Found Terry Pirovolakis.

Together the partnership between CCF and CureSPG50 is a leading example of the effort needed to bridge the translational gap that slows many programs in the field of rare diseases through leveraging critical translational and manufacturing expertise while also addressing the economic accessibility issues that nonprofit ultra-rare drug development programs face, especially for scientifically promising yet not commercially viable programs such as the development of an AAV gene therapy exemplified in this collaboration.

“The partnership with CCF will allow us to work quickly for a gene therapy cure and in a manner that stays within our original budget to save children affected by SPG50. Due to Covid-19, many biotechnology companies around the world have been impacted by serious delays and those that are available to manufacture a drug such as ours have significantly increased costs or simply lack the necessary expertise. We have been given a golden opportunity to save our children with great speed rarely seen in the rare disease sector thanks to CCF and Viralgen,” says Terry Pirovolakis.

This partnership with CCF is driving the CureSPG50 vision to be realized through cost savings of several million dollars over typical commercial costs and over 12-24 months of time savings. Manufacturing is one of the most difficult steps of this process and working with an industry leader is helping to close the rare disease divide for families and for children with ultra-rare diseases. Working with CCF and their partners, like VVC, also offers access to critical strategic support and expertise from leaders within the AAV field on behalf of programs that are held back by not having that expertise readily available.

“CCF is deeply driven by the urgency to ensure equitable access to the most effective treatments for patients with ultra-rare diseases. We believe no children should be left behind when cures are in reach and are thrilled to partner with organizations like CureSPG50 to effectuate that mission. I am inspired daily by parents, like Terry and Georgia, who have effectively become citizen scientists as they seek treatments for their child. We aim to ensure that the translational gap is bridged so that promising programs can move forward to become cures that save the lives of children,” remarked CCF executive director, Laura Hameed.

Through these partnerships, Columbus Children’s Foundation is working towards establishing an ecosystem that society can use to develop therapeutics for ultra-rare diseases using a nonprofit approach that has both science and compassion at its core. Today, with this announcement, we are one step closer to the goal of working towards the eradication of all diseases, even those with ultra-small patient populations.

About CureSPG50

CureSPG50 is a Toronto-based charity founded by Terry and Georgia Pirovolakis after their youngest child Michael was diagnosed with Spastic Paraplegia 50, an ultra-rare genetic disease as a toddler.
Michael is the only child in Canada currently known to have the disease. CureSPG50’s mission is to find a gene therapy cure for SPG50 so that no child currently born, and those in the future, will ever suffer from its terrible effects. With the incredible collaboration from world leading researchers from Cambridge University, Boston Children’s Hospital, Harvard University, UT SouthWestern Medical Centre and the National Institute of Health, a cure is within reach. With the support of tens of thousands of donors from across the world, CureSPG50 has been able to fund this remarkable research and do what was deemed impossible – change the lives of children affected by SPG50.
Learn more at

About Columbus Children’s Foundation (CCF)

CCF’s mission is to ensure equitable and affordable access to the most effective gene therapy solutions for children with ultra-rare genetic diseases. CCF uses a nonprofit model to partner and accelerate gene therapy treatments for programs with very small patient populations that are often overlooked because the economics don’t add up for those using a traditional commercial development model. Through strategic partnerships with other foundations, industry, patient groups and philanthropic donors; CCF aims to bring the scientific and funding resources together on behalf of the many ultra-rare diseases to accelerate hope and transform the lives of those fighting these devastating diseases.
Learn more at

Dr. Krystof Bankiewicz — World Renowned Gene Therapist — Named President and Chief Executive Officer, Columbus Children’s Foundation

Columbus Children’s Foundation announced today that Krystof Bankiewicz, M.D., Ph.D., has been named president and chief executive officer. Dr. Bankiewicz will work closely with Executive Director Laura Hameed and CCF’s esteemed board of trustee members, the CCF Cures Cabinet, and scientific advisors. 

Bankiewicz, founder of multiple biotech companies and tenured professor in the Department of Neurosurgery at The Ohio State University College of Medicine, has been instrumental in the organization’s success by developing and delivering multiple life-changing treatments as a CCF founding trustee. 

According to CCF Chairman and Chief Science Officer R. Jude Samulski, “Dr. Bankiewicz has been quietly focused on bringing life-saving medicines to children that have shown tremendous therapeutic outcomes. He is a remarkable talent with a sincere focus on using his expertise to change the lives of children with significant unmet medical needs. We’re thrilled to see someone with his mindset, expertise, and experience join us in this leadership role. Our organizational mission is aimed at ensuring no children are left behind when science can put cures in reach and Krystof will be a key player in effectuating that mission.” 

In this new role, Bankiewicz will orchestrate CCF’s unique non-profit model for conducting translational research and developing pre-clinical and clinical novel therapeutic programs to advance treatments for children with ultra-rare, and often debilitating, genetic disorders. 

“The significant impact Dr. Bankiewicz has had on the field of neuro-restorative medicine and gene therapy raises the Foundation’s standing and its ability to accelerate curative solutions will help children around the globe,” said Hameed. “Additionally, this innovative approach has the potential to change the market through developing cures while also ensuring equitable and affordable access for treatments. Access to cures without affordability creates tragic equity and access issues and I am thrilled that he has chosen to advance treatments using this innovative model. This approach brings out the best in science and humanity.” 

“In a world where economics do not add up for large biotech or pharmaceutical organizations to develop genetic medicine for smaller populations of children with ultra-rare conditions, by accelerating these programs in this manner, we can bring the focus needed to give these kids and their families a chance at life,” said Bankiewicz. “Achieving the astounding results we are seeing in children who have already been treated and joining the Foundation to expand this impact is one of the most rewarding opportunities of my career. I look forward to doing my part to make a difference in children’s lives and advance the ability to impact advancement in gene therapy more broadly.”

Recognized in the medical community for groundbreaking accomplishments treating Parkinson’s Disease and other conditions affecting the central nervous system, Dr. Bankiewicz pioneered delivery of gene therapeutics directly to the brain to treat neurological disorders. Among his many achievements as an industry and academic leader, he co-founded three companies, invented numerous medical patents and is author to more than 230 peer-reviewed research articles. Bankiewicz is a tenured professor of neurosurgery and Gilbert and Kathryn Mitchell Endowed Chair at The Ohio State University College of Medicine. Prior to that, he served as Kinetics Foundation chair in translational research and tenured professor in residence of neurological surgery and neurology at the University of California San Francisco. 

Bankiewicz earned an M.D. from Jagiellonian University in Krakow, Poland, and a Ph.D., D.Sc., from the Institute of Neurology and Psychiatry in Warsaw. He also trained at National Institutes of Health in Bethesda, MD. 

Cure Rare Disease Announces Partnership with Columbus Children’s Foundation

Companies Unite in an Effort to Drive the Development of Drugs for Rare Diseases Globally

Boston, Massachusetts–(Newsfile Corp. – August 19, 2020) – Cure Rare Disease (CRD), the emerging, Boston-based nonprofit on a mission to develop customized therapeutics for rare diseases, announced a strategic partnership with Columbus Children’s Foundation (CCF), a nonprofit biotech known for its role in the advancement and acceleration of gene therapy programs bringing hope to children with ultra-rare genetic diseases. In addition to advancing its internal programs for ultra-rare diseases, CCF is partnering with contract development and manufacturing organizations (CDMOs) such as Viralgen Vector Core (VVC), a leading manufacturer of Adeno-associated virus (AAV) vectors for gene therapy, to provide, expertise, access to capacity and significantly discounted Adeno-associated viruses (AAV) for ultra-rare diseases and mutations for which there’s limited therapeutic availability.

To view the full announcement, including downloadable images, bios, and more, click here.

Key Takeaways

  • Cure Rare Disease is partnering with Columbus Children’s Foundation to address the economic accessibility issues that nonprofit ultra-rare drug development programs face.
  • Manufacturing is one of the most difficult steps and CCF is helping to close the rare disease divide.
  • Working with CCF and their partners, like VVC, offers access to support in the AAV field, paired with a high-quality product that’s being produced for the first custom treatment for Duchenne muscular dystrophy pending FDA approval.
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Select image to view the full announcement, including downloadable images, bios, and more.

About Cure Rare Disease (CRD)

CRD is a Boston-based nonprofit biotechnology company founded by Rich Horgan, Blavatnik Life Science Entrepreneur-in-Residence at Harvard Business School who has witnessed three generations of his family affected by Duchenne muscular dystrophy, a fatal, neuromuscular disease. As anyone who is touched by a fatal, rare disease knows, time is of the essence. To overcome the obstacles inherent in the existing model of drug development, CRD has taken a new approach, forming an unprecedented collaboration with leading researchers and institutions nationwide in genetics, genomics, bioinformatics and biotechnology. Horgan and team are pioneering the development of a new platform for customized therapeutic treatments that can be applied to a range of rare, genetic diseases, and aim to inspire hope for a cure. Learn more at

About Columbus Children’s Foundation (CCF)

CCF’s mission is to ensure equitable and affordable access to the most effective gene therapy solutions for children with ultra-rare genetic diseases. CCF uses a nonprofit model to partner and accelerate gene therapy treatments for programs with very small patient populations that are often overlooked because the economics don’t add up for those using a traditional commercial development model. Through strategic partnerships with other foundations, industry, patient groups and philanthropy; CCF aims to bring the scientific and funding resources together on behalf of the many ultra-rare diseases to accelerate hope and transform the lives of those fighting these devastating diseases. Learn more at


Nina Pfister