Physician's Corner

For Clinicians, Researchers, and Medical Professionals
Committed to Advancing Care for H-ABC

The Foundation to Fight H-ABC/TUBB4A recognizes the vital role that physicians, neurologists, geneticists, and researchers play in improving the lives of children diagnosed with Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC), a rare and progressive leukodystrophy linked to mutations in the TUBB4A gene.

This page is designed to serve as a hub of up-to-date, clinically relevant information, research initiatives, and collaborative opportunities for those working on the frontlines of diagnosis, care, and treatment development.

What You’ll Find Here:

  • Current research initiatives, including gene therapy and antisense oligonucleotide (ASO) developments

  • Guidelines and tools for diagnosis and symptom management

  • Opportunities to collaborate or refer patients

  • Access to downloadable resources and published studies

  • Contact points for medical advisory support

If you are actively involved in diagnosing or managing patients with H-ABC, or are exploring treatment approaches in rare neurological conditions, we invite you to explore and share the AAV Gene Therapy Research currently underway in partnership with UMass Chan Medical School.

Together, through informed collaboration and continued discovery, we can offer families new hope—and work toward a future where H-ABC is no longer a life-limiting diagnosis

  • A one-time treatment approach using adeno-associated virus (AAV) vectors to deliver healthy genetic material to cells. This research aims to silence or replace the mutated TUBB4A gene causing H-ABC and has shown promising results in similar leukodystrophies.

    View more HERE about the AAV Gene Therapy

  • Each year, an estimated 18,000 babies are born with a form of leukodystrophy—a group of rare genetic disorders affecting the brain’s white matter. Of these, approximately 1,650 are TUBB4A-related, based on current diagnostic rates.

    To date, just over 200 individuals have been identified worldwide with a confirmed TUBB4A mutation—but many more may remain undiagnosed or have not yet come forward.

    TUBB4A leukodystrophy is rare, progressive, and incurable.

    Link to information on: ASO Treatment

  • RARE-X is a nonprofit platform for collecting, structuring and sharing rare disease data. We partner with patient advocacy groups to make data collection accessible and easy for rare disease communities — and ensure that the data is high quality and ready to be used to accelerate research and drive forward urgently needed treatments.

    Link to:
    Rare-X Research Program

    Molecular Genetics and Metabolism 144 (2025) 109048

  • Advancing H-ABC Research Through Drug Repurposing

    Drug repurposing offers a promising and pragmatic approach to accelerate treatment options for patients with H-ABC/TUBB4A-related leukodystrophy. In partnership with an AI-enabled biotech company, the Foundation to Fight H-ABC is supporting an early-stage initiative that leverages transcriptomic analysis to identify existing FDA-approved compounds with potential therapeutic benefit. This effort is not a clinical trial, but a preclinical precision-matching study that requires RNA samples from affected individuals and a genetically matched control (same-sex biological parent). We welcome collaboration with providers and clinical researchers to help identify eligible families, facilitate sample collection, and interpret results that may inform individualized or population-level next steps.

  • bioRxiv: Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy (2024)

    Data Report: A novel TUBB4A mutation G96R identified in a patient…(2017)

    eLife: TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model (2019)

  • UMass Chan Medical School Horae Gene Therapy Center: The Faculty of the Horae Gene Therapy Center is dedicated to develop therapeutic approaches for rare inherited disease for which there is no cure. We utilize state of the art technologies to either edit mutated genes that produce disease-causing proteins or introduce a healthy copy of a gene if the mutation results in a non-functional protein.

    Children’s Hospital of Philadelphia: The Leukodystrophy Center at CHOP includes a broad team of specialists dedicated to providing care, testing and treatments to infants and children with inherited white matter diseases.

    Adeline Vanderver, MD. Program Director of the Leukodystrophy Center, and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia.

    Global Leukdystrophy Initiative - Clinical Trial Network: The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) is a consortium of scientists, industry stakeholders, and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies.

    A Career Devoted to the Battle Against Deadly Brain Disease - Marjo van der Knaap