Research & Programs

Today’s experiment is
tomorrow’s cure

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The Columbus Children’s Pipeline

Gene therapy is the only treatment with the potential to not only treat but actually cure genetic disease. Gene therapy involves giving patients an IV infusion filled with millions of copies of healthy genes that scientists have inserted into harmless virus molecules. These molecules target cells with the highest concentration of the faulty gene, allowing the healthy gene to take over from it. Once the healthy gene begins secreting the protein that the patient previously lacked, the disease process could slow considerably or even stop.

Working with our scientific advisory board and international partners, we are facilitating potential gene therapies into clinical research programs for ultra-rare neurodegenerative genetic disorders.

$15 million can save countless lives.

AADC can be eradicated forever. All known cases in the world can be cured.
It takes only $15 million to make this global impact a reality.

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Ultra-rare diseases in the Columbus Children’s pipeline

Aromatic L-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects how signals are passed between certain cells in the nervous system. In the first year of life, symptoms appear that includes severe developmental delay, weak muscle tone, muscle stiffness, difficulty moving, involuntary movements of the limbs, sleep disturbance and spasms. Cardiac arrest is common but life expectancy is unknown since so few children are diagnosed. 

GM1 Gangliodosis is an inherited disorder that progressively destroys nerve cells in the brain and the spinal cord. The most severe form called type I, or the infantile form, usually becomes apparent by the age of six months. Type II, or late infantile form, progresses slowly and both forms come with significant physical and intellectual disability, varying degrees of vision loss, enlarged organs and an enlarged and weakened heart muscle.  Children with both types rarely survive past childhood.

Niemann-Pick A disease causes production of harmful amounts of lipids in the spleen, liver, lungs, bone marrow, and brain. By three months of age, infants usually develop hepatosplenomegaly, an enlarged liver and spleen, and fail to gain weight. Growth rate is severely stunted and within the first year of life, mental abilities and movement progressively decline. Lung damage often occurs that leads to infection and eventually respiratory failure. Life expectancy is generally no greater than early childhood.

Also caused by harmful amounts of lipid production, Niemann-Pick disease types C1 and C2 have similar symptoms as type A that are apparent in early childhood. Children with type C usually develop difficulty coordinating movements, lose vertical eye movement, develop poor muscle tone, and suffer from severe liver and lung disease. Speech, swallowing and intellectual function progressively decline with many children experiencing seizures. Life expectancy rarely extends beyond early adulthood.

CCF Open-Source™ expands treatment research

A key CCF initiative puts our program research and clinical data into the public domain where possible, building a shared knowledge base accessible to the gene therapy research community.

  • Accelerates innovation with open access to current research
  • Empowers the scientific community to advance ultra-rare gene therapy treatments
  • Ensures data availability for any ultra-rare disease program
  • Open-Source to drive standardization into the clinical and regulatory processes.
  • CCF Open-Source is driving standardization into the clinical and regulatory processes