The Charcot-Marie-Tooth Research Network (CMTRN) is a global network and rare disease patient registry representing the patients and families through vital Natural History Studies, a study that tracks the course of disease over time and identifies demographics, genetic mutations, medical care interventions, environmental influences and other variables that correlate patient outcomes to better understand CMT/IN and accelerate therapy development.
This network also provides critical data to support researchers in their preclinical and clinical research to accelerate therapy development. Our goal is to characterize genotype-phenotype correlations for HNPP, CMT2A with visual impairment/optic atrophy, CMT2C, LMNA medicated AD-CMT2, CMT4 (4A, 4B1, B2 &B3, 4C, 4D, 4E, 4F, 4G, 4H, and 4J), CMT6, ADOA. To date there is limited Natural History on the onset, progression, and patient-reported outcomes for these types of CMT.
We aim to characterize genotype-phenotype correlations and establish baseline clinical data for inherited peripheral neuropathies caused by mutations in the rare and ultra-rare forms of Charcot-Marie-Tooth (CMT)/Inherited Neuropathies (IN) – HNPP, CMT2A with visual impairment/optic atrophy, CMT2C, LMNA medicated AD-CMT2, CMT4 (4A, 4B1, B2 &B3, 4C, 4D, 4E, 4F, 4G, 4H, and 4J), CMT6, ADOA. Most of these forms vary in severity associated with different mutations and the natural history data and patient-reported outcomes will initiate further studies, improve outcome measures and the development of biomarkers.
These studies will support the Hereditary Neuropathy Foundation’s Therapeutic Research In Accelerated Discovery (TRIAD) Program, a collaborative effort with academia, government and industry to develop treatments for CMT/IN. Currently TRIAD involves many groups that span drug discovery, drug development and diagnostic continuum. The CMTRN supports clinical research and industry partners in the development of clinical trial design, a better understanding on the impact of clinical outcome measures and patient reported outcomes and patient engagement and recruitment for clinical trials.
HNF’s mission is to increase awareness and accurate diagnosis of CMT and related IN’s, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures. Your participation will have an impact on treatments and cures for CMT. Together we can change the future for patients living with this progressive disease!