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3 New Drug Development Projects


1. Rarebase – Repurposing Drugs – In partnership with Rarebase, HNF is leading the charge in the first-ever research initiative to tackle multiple types of CMT in one project. Rarebase is a public benefit biotech company focused on accelerating therapy development for rare diseases with its tech-enabled drug discovery platform called “Function”. Rarebase will screen a compound library of thousands of FDA-approved drugs and novel drugs, targeting 10 subtypes of CMT.

View 10 CMT Subtypes
  • CMT1A & HNPP (PMP22 dup & del)
  • CMT2A (MFN2 & MFN2 w/ optic atrophy)
  • CMT6 (Leigh’s Syndrome) (C12orf65)
  • CMT4A & CMT2K (GDAP1)
  • SORD Deficiency 
  • CMT4J
  • MTMR2
  • PRX
  • OPA1



Funding needed (Goal = $150k): HNF aims to develop additional human-derived cellular models for additional testing. To learn more and support the development for your subtype of CMT, contact [email protected]

Donate to Rarebase



2. Novel Drug for Multiple CMT Types HDAC6 Inhibitors – HNF was the first advocacy group to fund research for the basic understanding of how HDAC inhibition impacts CMT2A by testing this class of drugs in animal models such as zebrafish and mice for validation. Since 2014, HNF has invested $425,000 in HDAC6 inhibitors. 

  • The drug is currently being optimized for human trials and advancing to a pre-IND stage. 

  • Undisclosed Biotech Company, University of New Zealand, Burke Institute, and University of Sheffield. 

For more on HDAC6 inhibitors, click here. 

Funding needed (Goal = $250k): HNF aims to test HDAC6 in cellular and animal models with other subtypes of CMT, such as CMT1A, CMT4A, CMT2K, and CMT6. To learn more and support the development for your subtype of CMT, contact [email protected].


Donate to HDAC6

3. Autosomal Dominant Optic Atrophy ADOA (OPA1) In partnership with Fondazione per la Ricerca Biomedica Avanzata Onlus – Veneto Institute of Molecular Medicine – V.I.M.M., HNF awarded a grant to accelerate the screening of FDA approved drugs to identify small molecules that counteract axonal mitochondrial depletion in ADOA RGCs.


  • Autosomal dominant optic atrophy (ADOA)-plus syndrome is a rare inherited neuropathy affecting the OPA1 gene that involves vision loss, weakness in the muscles that control eye movement (progressive external ophthalmoplegia), difficulty with balance and coordination (ataxia), hearing loss, disturbances in the nerves used for muscle movement and sensation (motor and sensory neuropathy), and muscle weakness (myopathy).​

  • HNF expects to have an initial progress report in early 2022.

For more information, click here.

1 New Clinical Research Mobile App

CaptureProofIn partnership with CaptureProof, HNF developed a mobile app as an extension of the Global Registry in Inherited Neuropathies (GRIN) that uses advanced computer vision in a smartphone’s live camera to document CMT characteristics, symptoms, and functional challenges with activities of daily living (ADLs). 

  • CaptureProof is empowering patients across the US to tell their CMT stories. During this data collection, patients will answer survey questions, take photos and videos specifically designed to allow CMT experts (or Artificial Intelligence) to diagnose and measure the progression of CMT.

  • Not only is this a safer way has to visit with doctors during a pandemic, but it will provide access to CMT experts virtually documenting real-life challenges. With CaptureProof, HNF is putting a CMT Center of Excellence in living rooms across the US!

To enroll in this study, contact [email protected]


Funding needed (Goal = $500k): HNF aims to expand the pilot study globally to include multiple languages and countries where specific subtypes of CMT are required for clinical trials. The funds will support CMT Key Opinion Leaders in various countries. For more information, contact [email protected].


Donate to CaptureProof

3 New Gene Therapy Development Projects

1. GDAP1 – HNF expanded its aggressive mission to develop potential treatments for CMT4A, which includes a viral vector-based replacement gene therapy.  In 2019, HNF was the first to recognize this gene’s high potential for gene therapy success.

HNF has reached several milestones: 

  • The funding and development of human-derived cellular models by Dr. Mario Saporta at the University of Miami have been successful.

  • The funding and development of a rat model in partnership with Envigo, Burke Neurological Institute Academic Affiliate of Weill Cornell Medicine is currently in progress with expected results in early 2022.  

  • Enrolling patients in a Natural History Study for the development of clinical trials. 

To enroll in the study, contact [email protected]

Funding needed (Goal = $1.5 million): HNF aims to expand the GDAP1 Natural History Study globally to include multiple languages and countries that provide genetic testing and test viral vectors in cellular and animal models. For more information, contact [email protected]

Donate to GDAP1

2. C12orf65Since 2017, HNF has developed the gene therapy program for CMT6. The viral vector was made, but challenges in models delayed testing. We have pivoted our program to include additional partners hoping that we have overcome the challenges and will be testing the gene therapy in mid-2022. 


HNF has reached several milestones: 

  • The funding and development of a viral vector at UNC awaiting optional cellular and animal models for testing in collaboration with Jackson Laboratory, Helsinki University, and the University of Miami. 

  • Enrolling patients in a Natural History Study for the development of clinical trials. 

*To view update click here and here.

3. CNTNAP1 In November 2018, HNF was introduced to CNTNAP1, a devastating and fatal type of inherited neuropathy. Two families have championed the development of a gene therapy to save these children. In March 2020, HNF initiated a strategy and has met the following milestones. 

  • In collaboration with the University of Texas Health Science Center at San Antonio, the development of three mouse models replicating the various mutations within the CNTNAP1 gene. Two of the models have been completed, but unfortunately, time was not on Isabella and her family’s side.

HNF mourns the loss of Isabella, a precious little girl who during her life and afterward, has continued to drive urgent research for this type of CMT. Condolences can be emailed to [email protected] for her to share with Isabella’s Dad (Martin J.).


  • Enrolling patients in a Natural History Study in collaboration with Atlantic Health for the development of clinical trials.


5 Clinical Trial Development Projects


1. PharnextHNF has been partnered with Pharnext since 2013 to help identify and facilitate principal investigators & clinical trial sites, protocol development and raise awareness.

  • Pharnext is the first biotech company with an approved FDA IND for clinical trials (Phase II and Phase III) for CMT1A. 

  • The drug PXT3003 is in its final stages for the completion of the Phase III with results expected in Q3 2023.

*For the latest video update on the PXT3003 clinical trial, watch the presentation. 


2. Applied Therapeutics HNF has been identifying patients for free genetic and sorbitol screening for potential enrollment in their clinical trial expected to start early 2022. HNF is funding a SORD Deficiency rat to conduct additional studies. 

  • This new identified mutation in the SORD gene may be the most common Type 2 CMT. Those patients that are clinically diagnosed with Type 2 CMT may very well have the SORD gene.

*For the latest on SORD Deficiency, watch our webinar. 



3. Acceleron HNF was instrumental in the development of the clinical protocol for ACE-083 to treat CMT1 (the disease’s most common subtype) and CMTX (X-linked form of the disease). In collaboration with Acceleron, HNF conducted the largest Patient-Reported IRB-approved research study. The manuscript will be submitted in 2022 for peer-reviewed publication consideration to support future clinical trial designs.

  • Although the drug failed, the trial gave us additional insights on improving clinical trial protocols, identifying important outcome measures (i.e., pain, fall risks), and what matters most to patients.

*For more on this study, click here.



4. Taysha In 2014, HNF partnered with Hannah’s Hope Fund (HHF), the advocacy group that championed and funded the gene therapy program for GAN. This partnership created the Global Registry for Inherited Neuropathies (GRIN), the leading resource for enrolling GAN & CMT patients into clinical trials. 


  • In 2021, Taysha Gene Therapies acquired exclusive worldwide rights to the clinical stage AAV9 Gene Therapy Program for GAN. 

  • GAN is known to be fatal in the early onset of the disease; therefore, it’s critical that HNF help identify and diagnose patients early for potential enrollment in the clinical trial. 

  • If successful, this will be the first approved gene therapy for any subtype of CMT. 


5. HelixmithIn partnership with Helixmith, HNF is providing critical data from the patient registry, GRIN, and other resources as they prepare for the US trial. This will support the development of baselines for CMT pain, fatigue levels, and other important endpoints. 


  • This will be the first gene therapy phase I human clinical study for CMT1A. The first study was conducted in South Korea with a cohort of 12 patients who had mild to moderate CMT1A.

  • The drug Engensis (VM202) was well-tolerated and the safety endpoints were achieved with a trend of improvements seen in the chosen endpoints: FDS, ONLS-leg, CMTNS-v2 (measuring fatigue and neuropathy), and a reduction of muscle loss as evaluated by MRI. 

  • A larger second study is being planned in the US.

“HNF was the first to acknowledge and conduct research studies with funding support from Patient-Centered Outcomes Research Institute (PCORI), specifically addressing pain in CMT patients. We are thrilled to support Helixmith with our research findings and hope that this will be the first disease modifying treatment that addresses pain.” -Allison Moore, HNF Founder & CEO