Research
Building what a CMT cure depends on.
Building the infrastructure a CMT cure runs on. The Hereditary Neuropathy Foundation doesn’t fund a study and walk away. We build the infrastructure that stands between a promising therapy and a patient, and we close that gap. The patient registry, the biorepository, qualified disease models, and a network of trial-ready clinical sites turn a promising therapy into a trial-ready one, removing the biggest obstacles between a therapy and the patients who need it.
No single treatment is guaranteed to succeed. That is the nature of drug development. But every program that runs through our infrastructure moves faster and with less risk: natural history data already collected, biomarkers already validated, sites already trained and enrolling, and a clearer regulatory pathway to the qualified endpoints the FDA will accept. This is the work that has to happen before any treatment can reach a patient, and it is the work we have made ours.
By the numbers
Our firsts
HNF has a long record of building the tools CMT research did not have. These are milestones the field did not have until HNF made them.
- The first official CMT patient registry GRIN, the Global Registry for Inherited Neuropathies, launched in 2013: the only IRB-approved, patient-led global registry for inherited neuropathies. Read more
- First patient organization to engage the FDA HNF convened an externally-led Patient-Focused Drug Development meeting, bringing the patient voice into how CMT therapies are evaluated. Read more
- First advocacy group to fund HDAC6-inhibitor research for CMT Seed funding moved the work forward through successive disease models, from zebrafish to mouse to rat, and ultimately led HNF to seed-fund a startup biotech company, Miralinc Pharma, now advancing MRL-A102 toward the clinic. Read more
- First Patient-Focused Research Study What It’s Like to Live with CMT: Those That Know It Best, 2007. The first study to ask people living with CMT what the disease actually does to a life. Read more
- Only CMT patient advocacy group to win a CDC-funded grant The National CMT Resource Center, CDC Grant No. UDD000713, awarded 2010. Read more
- Only CMT patient advocacy group to win two Eugene Washington PCORI Engagement Awards The Patient-Centered Research Outcomes Summit, PCORI EAIN-3064, 2016, and the Patient-Centered CMT/HNPP Pain Summit, PCORI Award No. EAIN-7238, 2017. Two national convenings that put patients at the center of CMT research priorities. Read more
- First to launch a Patient-Initiated Genetic Testing program The CMT Genie, HNF’s patient-initiated, at-home genetic testing program, launched in 2022 with Genome Medical and expanded in 2024 through a partnership with InformedDNA to connect patients directly to telehealth genetic counseling and testing. Read more
- The first patient-run CMT biobank Built to scale and to connect biospecimens to real-world natural history data. Read more
- First advocacy-led decentralized natural history study Using digital and wearable technology to enroll patients in days rather than months (2024). Read more
Explore our research
Research by subtype
Looking for your own form of CMT? Start here.
CMT Type 1s
The demyelinating forms, including the PMP22 duplication, deletion and point mutations.
CMT Type 2s
The axonal forms, where the nerve fibre itself is affected rather than its insulation.
Mitochondrial CMTs
The subtypes whose genes affect how mitochondria are shaped or how they build their own proteins.
Other forms HNF works on
Rarer subtypes with their own pages and, in several cases, their own studies.
Are you a researcher or industry?
The same infrastructure is open to drug developers and academic teams: registry data access, biobank samples, validated endpoints, and a trial-ready site network.
See For Science & IndustryPower the research
The single most useful thing a person with CMT can do for research is to be counted. Join GRIN, HNF's patient registry, and your de-identified story becomes the raw material every program here depends on.