Funding Critical Research
Supporting Doctors and Scientists in the Quest for a Cure
With the support of generous donors like you, the Foundation to Fight H-ABC is funding academic institutions, children’s hospitals, and research scientists who are developing cutting-edge, genetics-based treatments for children affected by H-ABC / TUBB4A-related leukodystrophy. These treatments are designed not only to save lives, but to restore capabilities.
Average of $100,000 per year directed to research since 2015. With your help, we can continue fueling the science that brings us closer to a cure. Progress is being made, and pathways to treatment are within sight.
Why Grassroots Funding for H-ABC Research Is So Important
H-ABC is a rare disease—and that means it receives neither the attention nor resources it needs.
As there is little investment from pharmaceutical companies or academic institutions at this stage of research, it’s up to us to move the science forward. Our Foundation applies for grants, seeks donations from corporations, supports hospital fundraising efforts, and—most importantly—relies on the grassroots support of families and friends like you.
Where Your Donations Go
Donations help:
Fund the work of researchers developing genetic therapies
Cover the high costs related to conducting and maintaining research
Establish and support facilities where doctors can study long-term patient data
Directly support our trusted hospital and university research partners
Every dollar we raise goes directly to H-ABC research.
The Path Forward
With each dollar allocated to H-ABC research, we move one step closer to clinical trials—and to a future where children with H-ABC have access to life-changing treatments and, eventually, a cure.
What a Cure for H-ABC May Look Like
According to researchers, there are currently three possible approaches to treating H-ABC:
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This ongoing treatment would reduce the expected toxicity to cells from the mutated tubulin by using an approach that captures the mutated RNA before it becomes a damaged protein.
Read more about this in Nature: here. -
Adeno-associated virus (AAV) vectors are the leading platform for gene delivery for the treatment of a variety of human diseases. Recent advances in developing clinically desirable AAV capsids, optimizing genome designs and harnessing revolutionary biotechnologies have contributed substantially to the growth of the gene therapy field. Preclinical and clinical successes in AAV-mediated gene replacement, gene silencing and gene editing have helped AAV gain popularity as the ideal therapeutic vector, with two AAV-based therapeutics gaining regulatory approval in Europe or the United States. Continued study of AAV biology and increased understanding of the associated therapeutic challenges and limitations will build the foundation for future clinical success.
Read more about AAV vectors in Nature here
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Correct the mistake in the TUBB4A tubulin gene itself through a highly novel gene-editing approach called CRISPR that can correct ‘spelling mistakes’ in genes. CRISPR would correct the mutation at the DNA level in the TUBB4A gene.
Read more about the first CRISPR therapy used directly in a person in Nature: here.
The ASO and AAV are more viable treatment options at this time and both are currently underway. The ASO will provide time for affected patient until a permanent cure is found using the AAV. We estimate the initial phase through clinical trials for each approach will cost approximately $5 million.
How H-ABC Disease Research Has Progressed Over the Years
Although the path to a cure is a difficult one, a significant amount of progress has been made on H-ABC disease research already.
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In addition to general research at CHOP, the Foundation has also contributed to the initial roll out of the H-ABC Natural History Study: This is an ongoing study which is critical for gathering key data on patients in order to demonstrate the progression of the disease necessary for clinical trials. To date over 200 children are enrolled. See News and Articles for most recent updates
Funded H-ABC Scientific Conference held at Children’s Hospital of Philadelphia.
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Yale Mice discovery and knockdown model
Contributed to H-ABC Family Conference held at Children’s Hospital of Philadelphia
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Translational research at CHOP for ASO mice model
Launch of the Multiple-Year Sponsored Research Agreement with UMass for AAV research; Extended through 2026.
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Launch of the Patient Database
FDA Listening Session, to educate the FDA and researchers globally about H-ABC
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Launch of the Drug Repurposing Study
How We Got Where We are Today…
A timeline of scientific findings.
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In 2002, Dr. Marjo S. van der Knaap identified H-ABC using magnetic resonance imaging (MRI), which has become a key part of detecting brain tissue patterns that are characteristic of the disease.
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In 2013, Dr. Marjo S. van der Knaap and others discovered that those affected by H-ABC carry a mutation in the TUBB4A gene, which makes a protein for microtubules. With genetic testing, doctors are now able to confirm changes in the TUBB4A gene and diagnose H-ABC.
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In 2017, Dr. Ian Duncan concluded that H-ABC is the human counterpart of a neurological condition in rats. This rat model could serve as a testing ground for medications that inhibit microtubule formation.
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In 2021. Through the work of Professor Adeline Vanderver, Program Director of the Leukodystrophy Center of Excellence at Children’s Hospital of Philadelphia (CHOP) in the U.S, a gene therapy known as antisense oligonucleotides (ASOs) has been developed. SynaptixBio has recently entered into a research agreement with CHOP related to a new method for treating TUBB4A-associated leukodystrophy. Preclinical trial preparation is underway.
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In 2024. Via N-1 individualized treatment protocol, the first child was treated with a novel ASO and to date is showing positive signs of efficacy and safety.
PATH TO A CURE
The steps below outline the path to a cure. The financial support provided by our donors and given directly to researchers has played an integral part in completing the first two steps.
Already, those who have made the choice to stand with us and fight have made a huge difference in the lives of those affected by H-ABC.
Perform cellular-level research of the disease - COMPLETE
Research biological makeup of the disease - COMPLETE
Determine best approach for gene therapy - IN PROGRESS
Get FDA approval for clinical trial
Start clinical trial