Charcot-Marie-Tooth DiseaseCMT4JNCT03810508
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
An observational study of Charcot-Marie-Tooth Disease and Hereditary Motor and Sensory Neuropathy IV, run by Neurogene Inc. at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
- How many people
- 21 participants
- Where
- 2 sitesUnited States
- Study dates
- 18 Jul 2019to 15 Feb 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4).
Subjects must have a prior confirmed molecular (genetic) diagnosis of CMT4J by clinical presentation and genetic testing.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Texas Southwestern
Dallas, Texas, 75390
University of Iowa
Iowa City, Iowa, 52242
About this study
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.
Read the 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.
- Keywords
- CMT4J
- Medical subject headings
- Charcot-Marie-Tooth Disease, Refsum Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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
MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).
Measured: 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.
Measured: 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.
Measured: Change is being assessed from baseline measures every 12 months for up to five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2019
- Study start18 Jul 2019
- Primary completion15 Feb 2022
- Study completion15 Feb 2022
Why it stopped: Discontinued CMT4J development program
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Neurogene Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Elise Beausoleil, Study director, Neurogene Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03810508
- Sponsor's protocol ID
- CMT4J-100
- Acronym
- CMT4J
- Status last verified
- Mar 2022
- First submitted
- 17 Jan 2019
- Last updated
- 31 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
- ClinicalTrials.gov ID
- NCT03810508
- Acronym / sponsor ID
- CMT4J / CMT4J-100
- Keywords
- CMT4J
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Discontinued CMT4J development program
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Neurogene Inc.Industry (pharma, biotech, devices)
- Study start
- 18 Jul 2019 (actual)
- Primary completion
- 15 Feb 2022 (actual)
- Study completion
- 15 Feb 2022 (actual)
- First posted
- 18 Jan 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a diagnosis of CMT4J based on clinical presentation and genetic testing (known or suspected pathogenic mutation in FIG4).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Charcot Marie-Tooth Pediatric Scale (CMTPedS)
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
This an 11 item scale is used in patients younger than 18 yrs of age and generates a linear score of disability.
Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
This is a 36 point scale that monitors disease impairment and progression with a higher score signifies increased disability.
Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
This is a performance-based outcome assessment which measures limitations in functional abilities in adults.
CMT Health Index (CMTHI)
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
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.
Magnetic Resonance Imaging (MRI) of the calf muscles without contrast
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).
Nerve Conduction Study (NCS)
Time frame: Change is being assessed from baseline measures every 6 months for up to five years
NCS is an electrophysiological test to evaluate the sensory and motor responses in the upper and lower extremities.
Pulmonary Function Test, sitting and lying (PFT)
Time frame: Change is being assessed from baseline measures every 12 months for up to five years
The purpose of the PFT is to identify the severity and progression of pulmonary impairment, and will be performed every 12 months.
Results and safety
The study was stopped early (reason given: Discontinued CMT4J development program). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2022.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elise Beausoleil study director
Neurogene Inc.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease and Hereditary Motor and Sensory Neuropathy IV, run by Neurogene Inc. at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 31 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Discontinued CMT4J development program). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Charcot Marie-Tooth Pediatric Scale (CMTPedS) (time frame: Change is being assessed from baseline measures every 6 months for up to five years). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Mar 2022.