Natural History Study for Charcot-Marie-Tooth Disease

(INC-6601 Trial)

Recruiting at 24 trial locations

Overseen By Nicole M Kressin, MSN, RN

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Michael Shy

Disqualifiers: Uncertain variant, No consent, Others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 2

5000 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to understand the progression of Charcot Marie Tooth disease (CMT) over time and the relationship between genetic mutations and its symptoms. Researchers will observe participants to assess the disease's effects and test new methods to measure its impact, particularly in children. Individuals with a family history of CMT or symptoms of the disease may qualify for this trial. As an unphased trial, this study offers participants a unique opportunity to contribute to foundational research that could enhance the understanding and management of CMT.

Do I need to stop taking my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Why are researchers excited about this trial?

Researchers are excited about this trial because it aims to gather detailed information about the natural progression of different types of Charcot Marie Tooth Disease (CMT), such as CMT1B, CMT2A, CMT4A, and CMT4C. Unlike existing treatments that primarily focus on managing symptoms, this observational study seeks to deepen our understanding of how these diseases develop and affect patients over time. By capturing this data, scientists hope to identify patterns and potential targets for future therapies, ultimately leading to more effective and personalized treatment options.

Who Is on the Research Team?

Michael E Shy, MD

Principal Investigator

University of Iowa

Are You a Good Fit for This Trial?

Inclusion Criteria

All patients MUST be seen in person at a participating clinical site to be enrolled in the study.

Inclusion Criteria - Charcot Marie Tooth disease type 1B (CMT1B) and type 2A (CMT2A)

Patient has documented, disease causing mutation in the MPZ gene (for CMT1B) or in MFN2 (for CMT2A) OR Patient has a first or second degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented disease causing mutation AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

1 day

1 visit (in-person)

Evaluation

Participants undergo a full-day evaluation including neurological assessment, nerve conduction studies, and genetic counseling to diagnose and assess the severity of CMT.

1 day

1 visit (in-person)

Follow-up

Participants are monitored annually for disease management and may opt to participate in further research.

1 year

Annual visits (in-person)

What Are the Treatments Tested in This Trial?

Interventions

• Observational Study

Who Is Running the Clinical Trial?

Michael Shy

Lead Sponsor

Trials

1

Recruited

5,000+

The National Hospital for Neurology and Neurosurgery

Collaborator

Trials

1

Recruited

5,000+

Nemours Children's Hospital

Collaborator

Trials

7

Recruited

6,300+

Nemours Children's Hospital

Collaborator

Trials

4

Recruited

5,500+

University of Minnesota

Collaborator

Trials

1,459

Recruited

1,623,000+

Johns Hopkins University

Collaborator

Trials

2,366

Recruited

15,160,000+

University of Colorado, Denver

Collaborator

Trials

1,842

Recruited

3,028,000+

University of Miami

Collaborator

Trials

976

Recruited

423,000+

Wayne State University

Collaborator

Trials

318

Recruited

111,000+

Nemours Children's Health

Collaborator

Trials

1

Recruited

5,000+