Our Mission
HNF’s mission is advancing and supporting clinical research and trials for CMT. HNF has been instrumental in advancing clinical trials by providing valuable patient insight, innovative data collection and regulatory initiatives to assist in industry sponsored clinical trial design and to inform the FDA for decision making and oversight during drug development and commercialization of drugs and gene therapies for CMT.
How we advance Clinical Trials
HNF continues to be instrumental in advancing clinical trials by:
- Providing valuable patient insight
- Developing innovative data collection
- Consulting industry-sponsored clinical trial design
- Informing the FDA for decision-making and oversight during drug development and commercialization of drugs and gene therapies for CMT.
- Advocating for regulatory initiatives
Learn about current clinical trials and how you can help prepare for future participation in vital research!
The Key Role CMT Patients Play in Research
CMT Thrive Webinar
Presented by: Joy Aldrich, HNF GRIN Patient Registry Coordinator
Current Clinical Trials
- Pharnext PXT3003 PREMIER Trial for CMT1A
- Impact of CMT in the Real World – CMT&Me App
- Applied Therapeutics AT007 INSPIRE Trial for SORD Deficiency
- Global Registry for Inherited Neuropathies (GRIN)
How has HNF advanced & supported clinical trials for CMT?
HNF has developed a collaborative team of experienced CMT experts, patient advocates and clinical trial resources to support clinical trials for all types of CMT.
HNF’s Global Registry for Inherited Neuropathies (GRIN) helps to promote the needs and priorities of patients through IRB-approved studies.
These studies have and continue to generate robust data on genotype (CMT subtypes) correlated to phenotypes (signs & symptoms) from our Natural History Study as well as generated data from ClinGen surveys that are recognized as valid sources of patient data by FDA.
What are our Industry Partners saying?
“Initiatives such as the HNF registry bring together critical data from patients, caregivers and clinicians, including genetic tests and electronic health records. This information can help inform clinical trials of therapies for the 150,000 people in the US who are living with Charcot-Marie-Tooth disease and have no treatment options available,”
“GRIN data has been essential in clinical trial protocol design, site selection, and efficient patient recruitment for the pivotal Phase III clinical study of our lead asset PXT3003, the PREMIER trial, in development for the most common type of CMT, CMT1A.
Latest on HNF Industry Partnerships Clinical Trials
SORD Deficiency
A clinical-stage biopharmaceutical company that has developed a novel molecule to treat the newly discovered type 2 CMT gene which causes SORD deficiency. Experts believe that SORD deficiency could very well become the most common subtype of CMT 2. HNF has been instrumental in helping to facilitate and accelerate the approval of their clinical lead product AT-007, a Aldose Reductase Inhibitor (ARI) currently in clinical trials.
“Initiatives such as the HNF registry bring together critical data from patients, caregivers and clinicians, including genetic tests and electronic health records. This information can help inform clinical trials of therapies for the 150,000 people in the US who are living with Charcot-Marie-Tooth disease and have no treatment options available,” said Shoshana Shendelman, CEO & Founder of Applied Therapeutics.
Pharnext Pharmaceuticals
A late stage clinical biopharmaceutical company has developed a novel synergistic drug combination to treat the most common type of CMT, CMT1A. The drug Syngility is a fixed-dose in combination of baclofen, naltrexone and sorbitol to downregulate the overexpression of PMP22 protein, leading to improvement of neuronal signaling in dysfunctional peripheral nerves which is the primary pathophysiology problem for CMT1A. HNF has been in partnership with Pharnext since 2012 and is a key contributor to supporting the development and commercialization of Syngility. Expected results of their pivotal phase III is expected by Q4, 2023.
“GRIN data has been essential in clinical trial protocol design, site selection, and efficient patient recruitment for the pivotal Phase III clinical study of our lead asset PXT3003, the PREMIER trial, in development for the most common type of CMT, CMT1A. In addition, the robust data collected in GRIN, together with the ongoing CMT&Me digital survey, will enable a better understanding of the burden of disease, comorbidities, and critical patient demographics as we move forward to a potential commercialization of PXT3003 if approved by the FDA. Topline data of the PREMIER trial are expected in the last quarter of 2023.” Xavier Paoli M.Sc. Pharnext, Chief Operating Officer
We believe this clinical trial has the potential to be a crucial turning point in the effort to finally provide an efficacious treatment for patients suffering from CMT1A,” said Daniel Cohen, M.D., Ph.D., co-founder and CEO of Pharnext. “Today’s therapeutic options are very limited and mostly palliative in nature. Our PLEODRUG® PXT3003 has already demonstrated safety, tolerability and improvements in CMT1A patient disability in a Phase 2 trial. Given this positive safety assessment by the DSMB, we are hopeful to bring this much needed potential therapy to patients suffering from this debilitating condition upon completion of this Phase 3 trial.”
Join GRIN!
Without your participation, researchers won’t have the essential and necessary patient information to develop drugs, gene therapies, and clinical trials for Charcot-Marie-Tooth and other Inherited Neuropathies!
Genetic Testing – CMT Genie
Wish there was an easy guide for genetic testing?
Now there is with the CMT Genie!
HNF’s CMT Genie is designed to assist you and your health care provider determine what the best option is for you!
Learn more on this topic
Latest News and Related Blog Posts
Pediatric CMT Natural History Study Enrollment Opening at Two Centers of Excellence
Pediatric CMT Natural History Study enhancement to their Charcot-Marie-Tooth (CMT) and Inherited Neuropathies (IN) patient registry, Global Registry for Inherited Neuropathies (GRIN).
DTx Pharma Receives FDA Orphan Drug Designation for DTx-1252 for the Treatment of Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Dtx today announced that the FDA has granted Orphan Drug Designation to DTx-1252, an investigational FALCON small interfering RNA (siRNA) therapeutic for the treatment of Charcot-Marie-Tooth Disease Type 1A (CMT1A).
Great News From HNF TRIAD Industry Partner — Pharnext
Pharnext announces new positive results from the ongoing open-label extension study of their drug PXT3003
Great News From HNF TRIAD Industry Partner — Applied Therapeutics
Applied Therapeutics, Inc. has announced that their drug candidate, AT-007 (Govorestat), has received orphan medicinal product designation
CMT1A Clinical Trial Update: Pharnext PREMIER trial of PXT3003
The PREMIER Trial, which is being conducted in patients with mild-to-moderate CMT1A, is expected to enroll approximately 350 subjects ages 16-65 with a confirmed genetic diagnosis of CMT1A.
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT) Calling CMT1A Patients Ages 18-75
This study is a new international research project funded by the National Institutes of Health (NIH) called Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT).
Clinical Trial for CMT1A begins in Korea
Helixmith, specializing in gene therapy research for over 20 years, has kicked off its phase I and 2a clinical trial for using VM202 (Engensis) to treat CMT1A.
Press Release: Pharnext provides regulatory and clinical update on PXT3003 Phase III study for the treatment of Charcot-Marie-Tooth Type 1A
US Food and Drug Administration has agreed with Pharnext and provided clear guidance on the regulatory pathway to approval for PXT3003, including key design elements of a single pivotal Phase III study
ACE-083 did not achieve statistically significant improvements in functional endpoints relative to placebo; Acceleron to discontinue development of ACE-083.
treatment with ACE-083 in patients with Charcot-Marie-Tooth disease (CMT) did not demonstrate functional improvement in the Phase 2 trial
HNF’s Roadmap To Clinical Trial Development
2018 will be “the year” for our community as we prepare for the externally-led Patient-Focused Drug Development Meeting.