H-ABC Natural History Study 

Families are Invited to Participate

Natural History Study on H-ABC

Your family’s story can help shape the future for everyone living with H-ABC.

The team at the Children’s Hospital of Philadelphia (CHOP) is leading a robust Natural History Study to better understand H-ABC. By sharing your experiences, you’ll help researchers uncover vital insights into the symptoms, challenges, and needs of individuals affected by this diagnosis.

Your participation is essential. Every voice and every experience brings us one step closer to better treatments and, ultimately, a cure.

📝 Link to Participate →

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📊 Study Highlights →

Slide from a presentation titled 'Research Updates on TUBB4A-Related Leukodystrophy (TUBB4A-LD)'. Presented by Francesco Gavazzi, MD, PhD, a research associate at the University of Pennsylvania, Department of Neurology, Perelman School of Medicine.

📄 Full Publication →

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Together, we can change the future for those living with H-ABC.