Recruiting

Observational Study

Sponsor:

Clinic for Special Children

Code:

NCT06374719

Conditions

TNNT1-associated Myopathy

Infantile-onset Nemaline Rod Myopathy

Myopathies, Nemaline

Myopathy

Myopathy, Rod

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).

Conditions

TNNT1-associated Myopathy

Infantile-onset Nemaline Rod Myopathy

Myopathies, Nemaline

Myopathy

Myopathy, Rod

Study ID

NCT06374719

Start date

Sep 23, 2018

Status verified date

Jun, 2026

Completion date

Jun 1, 2027

Anticipated

Primary completion date

Jan 1, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

40 participants

Anticipated

Interventions and Outcome Measures

Arms

Prospective

Participants in the prospective cohort are enrolled during early infancy, shortly after diagnosis, and followed longitudinally with repeated assessments until reaching the primary study outcome.

Cross-Sectional

Participants in the cross-sectional cohort enroll at any time after diagnosis and all study data are collected at a single time point.

Primary outcome measure

  • Event-free survival [ Time Frame: Day 1 up to 15 years ]

Central Contacts and Locations

Central contacts

Justin Hersh

7176879407jhersh@clinicforspecialchildren.org

Joelle Williamson, MPH

7176879407jwilliamson@clinicforspecialchildren.org

Locations

Clinic for Special Children

Recruiting

Gordonville, Pennsylvania, United States, 17529

Contacts

Justin Hersh

7176879407jhersh@clinicforspecialchildren.org

Joelle Wiliamson, MPH

7176879407jwilliamson@clinicforspecialchildren.org

Principal Investigator:

Vincent J Carson, MD

More Information

Sponsor

Clinic for Special Children

Last update posted

Jun 23, 2026

Last verified

Jun, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Clinic for Special Children on 2026-06-23.