“Registries for Rare Diseases: Involve the Patient” http://www.medscape.com/
The CMTRN is a global network collecting critical data through Natural History Studies for specific forms of CMT and IN 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. Researchers interested in specific Natural History Studies for other forms of CMT/IN or specific studies related to these mutation , should contact the Natural History Research Coordinator at firstname.lastname@example.org
Help improve outcome measures, development of biomarkers.
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 . Patient-Reported data collection will provide a better understanding for blank, blank and blank for clinical trials of patients with Charcot-Marie-Tooth/IN disease caused by these gene mutations.