Natural history documentation of TNNT1 myopathy

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

WiTNNess is an observational study aimed at documenting the natural progression of muscle disease caused by mutations in the TNNT1 gene. It includes both prospective and cross-sectional arms, allowing participants to provide information once or at regular intervals. The study focuses on individuals diagnosed with TNNT1-associated myopathy, capturing vital signs, physical exams, motor milestones, and other health metrics. The goal is to establish meaningful outcome measures for future clinical trials of novel therapies.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Diagnosed with biallelic pathogenic variants of TNNT1
* Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.

Exclusion Criteria:

* Another known or suspected medical condition (genetic or acquired) that could potentially alter the natural disease course or otherwise interfere with completion of study procedures.

Where it's running

• Clinic for Special Children
  Gordonville, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Vincent J Carson, MD — Clinic for Special Children
• Study coordinator: Justin Hersh
• Email: jhersh@clinicforspecialchildren.org
• Phone: 7176879407

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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.