NCT03810508|Terminated
Study Stopped
Discontinued CMT4J development program
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
CMT4J
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Discontinued CMT4J development program
CMT4J
Sponsor study identifier
observational
21
1 country
2
Study Start
July 18, 2019
Actual (reported)Primary Completion
February 15, 2022
Actual (reported)Study Completion
February 15, 2022
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
February 15, 2022
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 17, 2019
Actual (reported)January 18, 2019
Actual (reported)July 18, 2019
Actual (reported)February 15, 2022
Actual (reported)February 15, 2022
Actual (reported)Charcot Marie-Tooth Pediatric Scale (CMTPedS)
This an 11 item scale is used in patients younger than 18 yrs of age and generates a linear score of disability.
Change is being assessed from baseline measures every 6 months for up to five years
Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)
This is a 36 point scale that monitors disease impairment and progression with a higher score signifies increased disability.
Change is being assessed from baseline measures every 6 months for up to five years
Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)
This is a performance-based outcome assessment which measures limitations in functional abilities in adults.
Change is being assessed from baseline measures every 6 months for up to five years
CMT Health Index (CMTHI)
The CMTHI is a disease-specific, adult patient reported outcome measure designed to capture the disease burden of inherited neuropathies in the context of a clinical trial.
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
Patients with a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4).
Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.
University of Iowa
Iowa City, Iowa, 52242, United States
University of Texas Southwestern
Dallas, Texas, 75390, United States
Patients will also have the opportunity to have biospecimens stored for up to 10 years for future exploratory analyses.
Elise Beausoleil
Neurogene Inc.
21 participants (actual enrollment reported by the registry).
First Submitted
January 17, 2019
First Posted
January 18, 2019
Study Start
July 18, 2019
Actual (reported)The Impact of Charcot-Marie-Tooth Disease in the Real World
MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).
Change is being assessed from baseline measures every 6 months for up to five years
Nerve Conduction Study (NCS)
NCS is an electrophysiological test to evaluate the sensory and motor responses in the upper and lower extremities.
Change is being assessed from baseline measures every 6 months for up to five years
Pulmonary Function Test, sitting and lying (PFT)
The purpose of the PFT is to identify the severity and progression of pulmonary impairment, and will be performed every 12 months.
Change is being assessed from baseline measures every 12 months for up to five years
Primary Completion
February 15, 2022
Actual (reported)Study Completion
February 15, 2022
Actual (reported)Last Updated
March 31, 2022
Record last verified: 2022-03
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Source: ClinicalTrials.gov.
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