WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
Clinic for Special Children
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).
Description
WiTNNess is an observational study that includes prospective and cross-sectional arms, both of which include people diagnosed with autosomal recessive TNNT1-associated muscle disease, commonly described as a form of infantile-onset (NEM5A) or childhood-onset (NEM5B) nemaline rod myopathy. The study's primary objective is to establish the nature and time course of disease outcomes under current treatment, so that these can later be compared to outcomes achieved with novel disease-modifying therapies (i.e., interventional trials). Participants from all over the world are welcome to enroll in ei…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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.
Location
- Clinic for Special ChildrenGordonville, Pennsylvania