25 Years of Firsts
Since its founding, the Hereditary Neuropathy Foundation has built much of the groundwork the Charcot-Marie-Tooth community relies on today: the first patient-led global registry for CMT, a biorepository for CMT, and a landmark meeting that carried the patient voice directly to the FDA. This is the story of those firsts, in order.
A timeline of HNF firsts
Each entry below marks a point where HNF built something the CMT field did not have before. Dates drawn from HNF history; a few precise dates are flagged for confirmation.
- January 2, 2001 HNF is founded
The Hereditary Neuropathy Foundation is established as a 501(c)(3) to increase awareness and accurate diagnosis of Charcot-Marie-Tooth disease, support patients and families, and fund research toward treatments and cures.
- 2004 First to designate September as CMT Awareness Month
HNF designates September as Charcot-Marie-Tooth Awareness Month and builds the campaign from the ground up, circulating awareness posters to doctors’ offices around the country and placing ads in national magazines such as Scientific American and People. What began as a grassroots push became the month the whole CMT community now marks.
- 2007 HNF’s first funded patient-focused research study
HNF launches its first funded study, “What It’s Like To Live with Charcot-Marie-Tooth (CMT): Those Who Know it Best.” Published by Drs. Elizabeth Barrett and Carole Birdsall, it became the pillar of HNF’s patient-focused approach and, later, the TRIAD program.
- 2009 HNF launches the Inspire CMT community
HNF partners with Inspire, a social network for health, to launch an online support community for CMT patients, families, and caregivers. What began as a support space has grown into a research partnership close to 12,000 members strong, with member surveys surfacing patterns no clinical dataset had captured. One survey asking patients which medical professionals they saw for their CMT found that most were seeing private healthcare providers, not CMT Centers of Excellence, a finding that helped shape the design of GRIN, HNF’s patient registry, and pointed to a broader conclusion: decentralized clinical trials, which take the burden of travel off patients, are a critical path forward for CMT research in today’s tech-enabled world, a model HNF has since proven out at its own Summits.
- 2013 GRIN, the Global Registry for Inherited Neuropathies, launches
Developed as part of TRIAD, GRIN is built to conduct patient-focused research and development for treatments and cures. It was later relaunched in April 2023. GRIN is the only IRB-approved, patient-led global registry for CMT.
- 2015 First advocacy group to fund HDAC6-inhibitor research for CMT2A, and its first venture philanthropy investment
HNF becomes the first advocacy group to fund HDAC6-inhibitor research for CMT2A, moving the work from zebrafish to mouse to rat models. This led to HNF’s first venture philanthropy investment, seed funding Miralinc Pharmaceuticals to carry the target toward clinical development.
- 2016 First PCORI Engagement Award, funding the Patient-Centered Research Outcomes Summit (PCROS)
HNF is approved for a Eugene Washington PCORI Engagement Award, a $50,000 grant from PCORI to support its first Patient-Centered Research Outcomes Summit, held October 6, 2016 in New York City. The Summit brought patients, caregivers, clinicians, researchers, funders, and industry together to close gaps in patient-centered research for CMT. As part of the award, the HNF team was trained in PCORI’s comparative effectiveness research (CER) model, a foundation that has shaped HNF’s approach to patient-focused research ever since.
- 2016 First US site to run a Phase III CMT trial
In April 2016, a member of HNF’s Centers of Excellence network became the first US site to open for a Phase III CMT trial, Pharnext’s PLEO-CMT trial of PXT3003 for CMT1A. HNF identified the trial sites and drove patient recruitment; GRIN data later guided site selection and enrollment for the follow-on PREMIER trial. PXT3003 has not won US approval. As of September 2021, an independent Phase III trial was underway in China, where the drug held priority review status.
- 2017 Second PCORI Engagement Award, funding the CMT/HNPP Pain Summit
Following the 2016 award, HNF received a second $50,000 Eugene Washington PCORI Engagement Award to fund the Patient-Centered CMT/HNPP Pain Summit, held November 3, 2017. The focus was not guessed. HNF polled GRIN and its Inspire community for the one word patients would use to describe their disease, and “pain” won by a landslide. That shaped the agenda: patients, clinicians, pain specialists, and industry, including Pharnext, Acceleron, and Flex Pharma, came together to close the gap in pain research for CMT. All three companies’ drugs would go on to fail their trials in the years that followed, an early, hard lesson that biotech and pharma need real resources to de-risk research, not just funding for the trial itself.
- 2018 First patient organization to lead a CMT EL-PFDD meeting
HNF becomes the first patient organization to lead an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting for CMT, putting the patient voice at the center of the room with caregivers, government officials, healthcare providers, industry, and payors there to listen. The meeting produced the Voice of the Patient report, which HNF still uses today to keep patient experience driving conversations with the FDA and drug developers.
- 2018 First CME course dedicated to CMT, in partnership with AANEM
HNF partners with the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) to launch the first continuing medical education course focused specifically on CMT, giving neurologists and electrodiagnostic specialists a dedicated credit-bearing path to sharpen their diagnostic and treatment skills. Sessions have continued at AANEM’s annual meeting in the years since, pairing GRIN registry data with the patient perspective to keep practicing physicians current on the disease.
- 2019 First onsite research at a CMT Summit
At its first Movement is Medicine™ Summit, held November 8 to 9 in Phoenix, AZ, HNF ran the first clinical onsite research at a CMT gathering, an ASU-led study measuring gait and balance in real time, right where the community had already gathered. It planted the idea that a Summit could be a research site, not just an event.
- 2021 First rat models for CMT4A and CMT-SORD
Mouse models failed to show disease for CMT4A (GDAP1) and CMT-SORD, so HNF developed and owns the first rat models for both, completed in January 2021. The CMT4A rat has supported Miralinc Pharmaceuticals’ work on the disease; the CMT-SORD rat has supported Applied Therapeutics, now part of Cycle Pharma, in advancing treatment for SORD deficiency.
- 2022 CMT Genie opens up genetic testing
HNF launched the CMT Genie, the first patient-initiated genetic testing program for CMT, helping patients confirm their subtype so lived experience can be matched to the exact mutation behind it. This matters because most therapeutic approaches target specific subtypes, so knowing yours is often the first step toward treatment.
- 2023 The CMT Biobank, a dedicated biorepository for CMT
In August 2023, in partnership with COMBINEDBrain, HNF establishes a biorepository dedicated to CMT, banking patient biospecimens linked to consented registry data so researchers can build disease models, discover biomarkers, and correlate findings to patient registry data.
- 2024 First comprehensive onsite research program at a CMT Summit
Building on the standalone study run at the 2019 Summit, HNF launches the first comprehensive onsite research program at its annual CMT Clinical Trial Readiness Summit, tying together CMT Biobank specimen collection, a multi-year digital health technology (DHT) mobility study, and more, all in one place, all where the community already gathers. That integrated model now helps strengthen endpoint validation and support FDA qualification efforts for digital measures in CMT trials.
- 2025 First CMT2A rat model with optic atrophy, in development
HNF initiated development of the first CMT2A rat model to replicate optic atrophy, the vision loss that affects many CMT2A patients but that no prior model, including years of mouse models, had reproduced. Once complete, the transgenic rat will carry the same MFN2 mutations found in patients, giving researchers a preclinical tool to test candidate therapies against the disease as patients actually experience it.
- 2025 CMT DEPLOY, accelerating treatments together
HNF launches CMT DEPLOY, a coordinated initiative to remove every roadblock between a promising therapy and the patients who need it, spanning patient registries, clinical trial readiness training, wearable tech, and biomarker discovery, and uniting patients, advocacy leaders, researchers, biopharma, and regulators under one mission.
- 2026 First CMT patient advocacy group to measure hearing loss as a CMT phenotype
Patients had been telling HNF about hearing loss for years through GRIN, HNF’s patient registry, but no one had connected it to CMT as a phenotype worth formally tracking. HNF’s own data collection using NIH-validated ClinGen surveys built the evidence base, leading to a 2026 partnership with Shoebox to run hearing tests on CMT patients at that year’s Summit. This is an ongoing effort.
Why the firsts matter
None of these firsts happened because they were easy, and none happened because someone else was going to do them first. HNF’s strategy for 25 years has been the same: find the gap, because nobody else will fund a registry that does not exist, a rat model no lab will build, or a drug program too early for traditional pharma, and then close it. A registry, a biobank, a rat model, a venture philanthropy investment, an FDA meeting: each looks like a different kind of project, but each is the same bet, made over and over, that the fastest way to a treatment is to build the thing that is missing rather than wait for someone else to.
That strategy only works with patients at the center of it. Every program on this page started with the patient voice, in the data collected, the models built, and the trials designed, because that is the only way evidence turns into therapies that actually work for the people living with CMT.
None of it was free, and none of it happens automatically from here. Every one of these firsts exists because HNF did not wait for a pharmaceutical company to de-risk CMT. First we built the registry, the models, and the relationships, on the theory that the fastest path to a treatment is removing the risk before industry has to. That engine is real and it is already running. What it needs now is fuel: the CMT Cure Accelerator turns every gift into more infrastructure, registries, biobanks, rat models, sensitive outcome measures and trial-ready networks, the kind that turns “someday” into a filed application, and saves the years and dollars a drug would otherwise lose rebuilding what already exists.
Join the Cure Accelerator
The infrastructure that produced every first on this page is real, 25 years of it, running on data, not momentum alone. Your gift is what keeps it building: the disease models, biomarkers, and regulatory-grade data that de-risk every trial and support decentralized, patient-first research, the work that takes CMT therapeutics from validated science into human trials, and turns “someday” into an approved treatment. This is not a leap of faith. It is the final stretch of a mission 25 years in the making.
Major projects and programs
The firsts on the timeline grew into the programs HNF runs today. Each one carries the patient voice into a different part of the road to treatments.
HNF has also produced a series of children’s books (Arlene On the Scene and Arlene the Rebel Queen), supportive patient resources, quarterly CMT Update newsletters, CMT-Connect, and podcasts.
Be part of the next first
Every milestone on this page was powered by people living with CMT who chose to share their story. The next first depends on the same thing.
Want the detail behind a milestone? Read about the 2018 FDA Patient-Focused Drug Development meeting, or explore emerging technologies →