Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways
Charles K. Abrams, Sue Bruhn, Joshua Burns, Rebekah Fleming, Katherine Forsey, Vera Fridman, David N. Herrmann, Brian Lin, Susan McCune, Allison Moore, Susan Ruediger, Michael Shy, Shannon Strom, Shannon Strom, Shannon Strom, Peggy Allred, Dottie M. Caplan, Samuel Collins, David Goldstein, Christina · 2026
Read Clinical Development of Therapies for Charcot–Marie–Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways by Charles K. Abrams, Sue Bruhn, Joshua Burns, Rebekah Fleming, Katherine Forsey, Vera Fridman, David N. Herrmann, Brian Lin, Susan McCune, Allison Moore, Susan Ruediger, Michael Shy, Shannon Strom, Shannon Strom, Shannon Strom, Peggy Allred, Dottie M. Caplan, Samuel Collins, David Goldstein, Christina (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13438117.txt.
Description
Charles Abrams and co-authors set out recommendations for developing therapies for Charcot-Marie-Tooth disease, published in 2026. This family of inherited nerve disorders is the most common genetic neurological condition, yet each subtype is rare. That rarity makes drug development hard: patient groups are small, progression varies, and sensitive outcome measures are scarce.
A joint group of patient advocates, treating clinician-scientists, and industry members drafted the guidance together. It covers trial design for a slow, progressive, rare disease, plus endpoints and regulatory paths. Flexible designs are urged, including adaptive trials, external control groups, and single-participant studies where justified. Entry rules should rest on clinical features rather than genetic subtype alone, where possible, the group recommends, with outcomes that patients find meaningful.
Catalog record
| CREATOR | Charles K. Abrams, Sue Bruhn, Joshua Burns, Rebekah Fleming, Katherine Forsey, Vera Fridman, David N. Herrmann, Brian Lin, Susan McCune, Allison Moore, Susan Ruediger, Michael Shy, Shannon Strom, Shannon Strom, Shannon Strom, Peggy Allred, Dottie M. Caplan, Samuel Collins, David Goldstein, Christina |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 44 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |