Understanding genetics of Charcot-Marie-Tooth disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This project aims to identify new genes responsible for Charcot-Marie-Tooth disease (CMT) and to explore modifier genes that influence the severity of symptoms in patients with CMT type 1A (CMT1A). Eligible participants will either have a confirmed diagnosis of CMT1A or an unknown form of CMT. Blood samples will be collected and analyzed through exome sequencing at the University of Miami to uncover genetic factors associated with the disease. Participation is voluntary, and subjects will be informed about the optional nature of the genetic testing.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Patients:

  o Must have demonstrated neuropathy on nerve conduction studies or a clinically diagnosed hereditary neuropathy, in the opinion of the site investigator.
* Controls:

  * Must be a family member of a CMT patient who is enrolled in the 6602.
  * AND one of the following:
  * Does not have a peripheral neuropathy, in the opinion of the site investigator.
  * OR is suspected to have a peripheral neuropathy, but has not been examined at an INC site.

CMT1A Modifier Study

Inclusion Criteria:

• Patient has a documented PMP22 duplication

AND/OR

• Patient has a first or second degree relative (parent, child, sibling, half-sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A.

* A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.
* In cases where clear links are not available, genetic testing is required for the patient or the first degree family member who is not clearly affected.

Exclusion Criteria

* All Patients: Must not have known neuropathy from a non-genetic source, such as chemotherapies (i.e., Vincristine, Taxol, Cisplatin), diabetes, alcoholism.
* CMT Exome Project Patients ONLY: Must not have a genetically confirmed form of CMT
* All Participants: Does not wish to participate or does not sign a consent form.

Where it's running

• Cedars-Sinai Medical Center
  Los Angeles, California, United States Recruiting
• Stanford University
  Palo Alto, California, United States Recruiting
• University of Colorado Hospital
  Aurora, Colorado, United States Recruiting
• Connecticut Children's Medical Center
  Hartford, Connecticut, United States Recruiting
• University of Miami
  Miami, Florida, United States Recruiting
• University of Iowa
  Iowa City, Iowa, United States Recruiting

Study contacts

• Principal investigator: Michael E Shy, MD — University of Iowa
• Study coordinator: Tiffany Grider, MS, CGC
• Email: UICMTClinic@uiowa.edu
• Phone: 319-384-6362

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• VT-101 in Advanced Ovarian Cancer: early safety study in adults

  This early-phase trial tests VT-101 in adult women with advanced, recurrent, or relapsed epithelial ovarian cancer to see if it is safe, how the body handles it, and whether there are any initial signs of activity.

  Recruiting Phase 1 University of Iowa · Iowa City, Iowa · NCT07905677

• Comparing Training Methods to Reduce Forefoot Loading with a Carbon Fiber Dynamic Orthosis

  This study tests whether different training methods (no feedback, visual feedback of forefoot force, or visual feedback of cuff forces) help healthy adults use a carbon fiber dynamic ankle-foot orthosis more effectively during walking.

  Recruiting University of Iowa · Iowa City, Iowa · NCT07889765

• Detoxify for IVF: Cutting Everyday Pollutants to Help Infertility

  This study tests a guide to help IVF patients reduce everyday environmental pollutants and sees if it lowers chemical exposure in urine, blood, and follicular fluid.

  Recruiting University of Iowa · Iowa City, Iowa · NCT07802691

• Biomarkers to see if rotator cuff repairs will heal after surgery

  This study tests whether biomarkers in shoulder tissue and synovial fluid can predict whether a rotator cuff repair will heal, using MRI after surgery to compare those who heal with those who don’t.

  Recruiting University of Iowa · Iowa City, Iowa · NCT07781553

• Personalized supervised exercise program for adults with breast or gynecologic cancer

  A small pilot study will test a supervised, personalized exercise program to see if it is safe, feasible, and acceptable for adults with a history of breast or gynecologic cancer.

  Recruiting University of Iowa · Iowa City, Iowa · NCT07765927

• Obesity and normal-weight healing after gum graft surgery using collagen plug or PRF

  This study tests whether healing after a gum graft differs by weight class (obese vs. normal weight) and compares platelet-rich fibrin clot to the standard collagen plug.

  Recruiting University of Iowa · Iowa City, Iowa · NCT07756112

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.