Clinical trial NCT03810508: A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Official title: A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Charcot-Marie-Tooth Disease
Hereditary Motor and Sensory Neuropathy IV
Keywords: CMT4J
Lead sponsor: Neurogene Inc.
Sponsor class: INDUSTRY
First posted: 2019-01-18
Enrollment: 21
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4).

Brief summary: 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.

Detailed description: Charcot-Marie-Tooth (CMT) diseases are the most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease.

CMT4J is a rare subtype of CMT caused by mutations in the FIG4 gene. Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. Adult-onset CMT4J can present with a more variable disease course.

No prospective natural history study for CMT4J has been reported. This study aims to prospectively investigate the natural history of CMT4J, and concurrently to identify potential outcome measures that could be used in future clinical trials. No investigational product will be provided in the study.

Eligibility criteria: Subjects must have a prior confirmed molecular (genetic) diagnosis of CMT4J by clinical presentation and genetic testing.

Primary outcomes:
measure: Charcot Marie-Tooth Pediatric Scale (CMTPedS)
timeFrame: Change is being assessed from baseline measures every 6 months for up to five years
measure: Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)
timeFrame: Change is being assessed from baseline measures every 6 months for up to five years
measure: Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)
timeFrame: Change is being assessed from baseline measures every 6 months for up to five years
measure: CMT Health Index (CMTHI)
timeFrame: Change is being assessed from baseline measures every 6 months for up to five years
measure: 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
measure: Nerve Conduction Study (NCS)
timeFrame: Change is being assessed from baseline measures every 6 months for up to five years
measure: Pulmonary Function Test, sitting and lying (PFT)
timeFrame: Change is being assessed from baseline measures every 12 months for up to five years
Secondary outcomes:
Other outcomes:
Locations:
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Dallas
country: United States
facility: University of Texas Southwestern
state: Texas
Study officials:
affiliation: Neurogene Inc.
name: Elise Beausoleil
role: STUDY_DIRECTOR
References: