Foundation to Fight H-Abc

The Foundation is a 501©3 non-profit created in 2015 to help raise awareness and fund critical research for a cure for Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC), a Tubb4A related Leukodystrophy predominantly affecting children.   Caused by a mutation in the TUBB4A gene, H-ABC is a rare genetic disorder that affects certain parts of the brain—specifically the basal ganglia and the cerebellum, which control movement. H-ABC targets these important structures, reducing both their size and function. As a result, those who suffer from H-ABC experience motor problems.  However, the condition is progressive and without treatment, the children succumb to the condition typically by early adulthood.  

Rare diseases such as H-ABC are more common than many people realize.  A disease is considered rare if it affects less than 200,000 people.  Most of the approximately 7,000 to 10,000 known rare diseases disproportionately affect children, adolescents and young adults.  Of the approximate 50% of rare diseases that affect children, 30% of those will not make it past their fifth birthday.  Individually, most rare diseases might affect only a few hundred to a few thousand people worldwide.  Although individually rare, they affect about 30 million people in the United States, or roughly one in ten people.  Rare diseases are exceedingly difficult to diagnose, and even harder to treat.  Of the known rare diseases, approximately five percent have a U.S. Food and Drug Administration- approved therapy.  Many of these diseases have a genetic cause, and are serious or life-threatening.

The average amount of time to get a diagnosis is 7 years, often impacting ability to get early treatment impacting long term health and even mortality.  Based on a 2021 study, the NIH indicates health care costs for people with rare diseases have been underestimated and are actually three to five times greater than the costs of those without a rare disease, on par with those for cancer and heart failure.

The cause of H-ABC was relatively recently identified in 2014 by Children’s Hospital of Philadelphia (CHOP) and now due to the availability of genetic diagnostic testing, many children are being identified.  As such, the rate of occurrence is growing exponentially.   Given this rate of newly diagnosed patients, it has been estimated that 1600 new cases arise annually.  The Foundation has been involved in many projects to help drive results for a cure and prepare for clinical trial.  This includes financial support for scientific symposiums and family conferences in collaboration with the United Leukodystrophy Association and CHOP.  The Foundation initially funded the roll out of the natural history study for the condition currently managed by CHOP and now NIH funded, which is essential to understanding the mechanisms of the disease and establishing meaningful outcomes for a trial.  We have supported ASO research at CHOP which is still underway, and in the last three years, entered into an exclusive sponsored research agreement with Umass Chan Medical School for AAV gene therapy, a permanent treatment.   We have established a patient registry and conducted an FDA Listening Session on the condition.  Last but not least, we support families across the globe providing guidance and resources on how to live with this condition.  

To date we raised over $700,000 to complete this work via our fundraising efforts and grant requests.  The Foundation to Fight H-ABC is currently seeking grants to assist with the conclusion of the AAV research with Umass, which amounts to $100,000 per year.  

We are also working on a short-term treatment using an ASO, another form of blocking a gene mutation, and at this time a therapeutic has been designed and soon to be administered in individual trials under FHA protocol.   There are currently several children awaiting approval, and if successful, could be commercialized quickly.  This treatment is ongoing and costs for administration of the drug is being supported by the Foundation.