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.

Read more at: https://musculardystrophynews.com/2022/04/29/organizations-helping-rare-disease-patients-ukraine-war-refugees/

‘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.

Read more at: https://www.newsobserver.com/news/local/article258983083.html#storylink=cpy

Accelerating HOPE – Rare Disease Day

Rare Disease Day is February 28, 2022. 

Columbus Children’s Foundation in collaboration with Realia by Jen are excited to announce their launch of this year’s bracelet, featuring the word “HOPE.” This will involve a social media campaign to spread awareness for children living with ultra-rare genetic diseases. This is set to launch on Rare Disease Day. 

This is the second year of CCF’s bracelet launch. In 2021, a black onyx bracelet with the word “RARE” was launched. This year, the featured word on the bracelet is “HOPE.” 

CCF aims to bridge the treatment gap for children living with ultra-rare genetic diseases by helping to develop a cure and accelerating access to gene therapy treatments, giving children and their families hope to live their lives to the fullest. 

Campaign link: https://acceleratehope.givesmart.com

Learn more about CCF: https://columbuschildren.org/who-we-are/ 

All-Stars For Cures

February 5th, 2022 from 4-8 PM

During the 2022 NHL All-Star weekend, join us for a casual evening to learn more about changing the odds for kids with rare disease.

Hosted By: Tim + Debbie Tyson

Co-Hosted By: Phil + Karin Housley and Tommy + Reide Powers

Blues great Joe Bonamassa teams up with Columbus Children’s Foundation in exclusive fundraiser to benefit children with Ultra-Rare Genetic Diseases

Joe Bonamassa and Friends Ultra Rare Celebrity Jam set for October 1-3 at the Iconic Sunset Marquis Hotel in West Hollywood

Chapel Hill, North Carolina, June 10, 2021 – Columbus Children’s Foundation (CCF), an organization dedicated to bringing treatments and cures to children with ultra-rare genetic diseases, is staging an exclusive fund-raising event with world renowned blues guitarist Joe Bonamassa. A sponsor-only event, set for October 1st – October 3rd,, Joe Bonamassa and Friends Ultra Rare Celebrity Jam will take place at West Hollywood’s Sunset Marquis, an iconic location known for its deep ties to many of the most notable names in entertainment.

Joe Bonamassa will headline the weekend’s festivities and will perform on Saturday evening in an exclusive “jam session” where he, and other soon-to-be-named noteworthy musicians, will take the stage. All proceeds from this planned annual event will fund the development of treatments and cures for ultra-rare genetic diseases, some of which affect fewer than 50 children annually across the globe.

Recognized by his peers as a virtuoso guitarist with twenty-two #1 Billboard blues albums to his name, Grammy-nominated Joe Bonamassa commented, “No amount of success is bigger than the life of a child in need who suffers from a rare genetic disorder. If I can bend a few strings over a weekend and that can help change a child’s life, it is worth every minute of my time to bring hope closer to those kids.”

Started in 2017 in Valencia, Spain with U.S. headquarters in Chapel Hill, North Carolina, CCF brings an international network of scientific experts, technology resources, and affordable manufacturing capacity to expand equitable access for potentially life-saving treatment options for children with rare genetic diseases. CCF’s non-profit biotech model accelerates clinical processes to make treatments more immediately available to children whose life may otherwise end at an early age or be severely altered.

According to Dr. Krystof Bankiewicz, the world’s foremost expert on neurological genetic diseases and CCF’s CEO, “This event is incredibly important to raise awareness for CCF and for raising much needed funding to bring hope to the children and families we serve. Words cannot express our thanks to Joe for lending his name and talents to our event.”

A company or individual can sponsor and participate in the weekend long event at one of three levels. A double Platinum Record naming sponsor is available at $32,000, Platinum Record sponsors at $12,500, or Gold Record sponsors at $7,500. Details for sponsorship packages, which include all room nights at the Sunset Marquis and exclusive access to the Ultra Rare Jam, can be found at ultrararejam.com.

According to Laura Hameed, CCF’s managing director, “Music is a wonderful tool to bring people together to advance the best of humanity and to bring real hope and treatments to kids with rare diseases across the globe.” Ms. Hameed continues, “This promises to be an amazing weekend long event. Based on our current commitments and the significant early level of interest, we expect to fill up quickly, especially with anticipated announcements of whom will be joining Joe for the celebrity jam.”

The Joe Bonamassa and Friends Ultra Rare Celebrity Jam is expected to be an annual event and is the premier fundraising event for CCF in the United States. For more information about the Joe Bonamassa and Friends Ultra Rare Celebrity Jam and to become a sponsor, visit ultrararejam.com or contact Laura Hameed at 612-437-8836 or Mark Rosenberg at 919-412-7378.

About Columbus Children’s Foundation (CCF)
CCF is an international childhood rare disease foundation with the 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, with science at its foundation and compassion at its core, to partner and accelerate gene therapy treatments for programs with very limited 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 genetic diseases. CCF accelerates hope and transforms the lives of those fighting these devastating diseases. Learn more at www.columbuschildren.org

Media contact:

Mark Rosenberg • mark@trueparallel.com • 919-412-7378

COLUMBUS CHILDREN’S FOUNDATION AND CURESPG50 ANNOUNCE MANUFACTURING PARTNERSHIP FOR AAV GENE THERAPY

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 www.CureSPG50.org

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 www.columbuschildren.org

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.
Cannot view this image? Visit: https://orders.newsfilecorp.com/files/7294/62033_reportablesimageresized5.jpg

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 www.cureraredisease.org.

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 www.columbuschildren.org

Contact:

Nina Pfister
nina@mooringadvisorygroup.com
781-929-5620

Cell & Gene Therapy Insights: Curing ultra-rare diseases while ensuring access, equity and affordability

By definition, rare diseases are rare. Yet, while individual diseases may be rare and only affect a small population, the total number of people living with a rare disease is quite large. Surprisingly, if you amalgamate all the people living with the more than 7,000 known rare diseases, the population would be larger than the third most populous country in the world. And, one out of two patients diagnosed with rare disease is a child.

Read the full editorial article by R. Jude Samulski, Chairman, Chief Science Officer at Columbus Children’s Foundation & Laura Hameed, Executive Director at Columbus Children’s Foundation here.