Stopped: Discontinued CMT4J development program
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory compromise and premature death with no available treatment. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Charcot Marie-Tooth Pediatric Scale (CMTPedS)
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
CMT Health Index (CMTHI)
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
Magnetic Resonance Imaging (MRI) of the calf muscles without contrast
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
Nerve Conduction Study (NCS)
Timeframe: Change is being assessed from baseline measures every 6 months for up to five years
Pulmonary Function Test, sitting and lying (PFT)
Timeframe: Change is being assessed from baseline measures every 12 months for up to five years