Natural history documentation of TNNT1 myopathy
WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
This study is trying to learn more about how TNNT1 myopathy affects people over time to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Sex | All |
| Sponsor | Clinic for Special Children Academic / other |
| Locations | 1 site (Gordonville, Pennsylvania) |
| Trial ID | NCT06374719 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with biallelic pathogenic variants of TNNT1, experiencing infantile-onset or childhood-onset muscle weakness.
Not a fit: Patients with other known or suspected medical conditions that could interfere with muscle health or study procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights into the natural history of TNNT1 myopathy, aiding in the development of targeted treatments.
How similar studies have performed: While this approach is observational and builds on existing knowledge, it aims to establish a comprehensive understanding of TNNT1 myopathy, which has not been extensively documented in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Gordonville, Pennsylvania
- Clinic for Special Children — Gordonville, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Kevin Strauss, MD — Clinic for Special Children
- Study coordinator: Erin Sweigert
- Email: esweigert@clinicforspecialchildren.org
- Phone: 7176879407
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.