Changing the Future for Children with H-ABC
A rare diagnosis—hope starts here.
What is H-ABC?
H-ABC (Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum) is a rare and progressive neurological disorder caused by mutations in the TUBB4A gene. It typically begins in infancy or early childhood and affects the brain's ability to form the protective myelin sheath around nerve cells.
Over time, children with H-ABC may lose the ability to sit, stand, walk, speak, or swallow independently. This condition lies at the most severe end of the TUBB4A-related leukodystrophy spectrum.
There is no cure—yet. But through research, advocacy, and community support, we are working to change that future.
Advancing the Mission
RareX Data Collaboration
Participation in the global rare disease data initiative led by RARE-X helps researchers better understand H-ABC and accelerates scientific discovery.
FDA Patient Led Listening Session H-ABC/TUBB4A Published
On May 9, 2022, six parents providing care for their children living with H-ABC, participated in a Patient Listening Session with the FDA.
The Foundation to Fight H-ABC was established in 2015 with a clear and urgent mission:
To raise awareness, support families affected by H-ABC/ TUBB4A-related leukodystrophy, and drive research toward effective treatments—and ultimately, a cure—for Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and TUBB4A-related leukodystrophy.
Fuel Research and Hope
Your donation directly supports groundbreaking research in gene therapy and other promising treatments for H-ABC and TUBB4A-related leukodystrophies. Every dollar moves us closer to a world with better outcomes—and eventually, a cure.
Be Part of the Movement
Join our events, share our story, or volunteer to raise awareness in your community.
Every Share Makes a Difference
H-ABC is rare—but the more people who know about it, the greater our collective impact. Share our stories, follow us on social media, or invite others to learn about this condition and our mission.