WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
Status: Recruiting
Location: See location...
Study Type: Observational
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).
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Diagnosed with biallelic pathogenic variants of TNNT1
• Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.
Locations
United States
Pennsylvania
Clinic for Special Children
RECRUITING
Gordonville
Contact Information
Primary
Erin Sweigert
esweigert@clinicforspecialchildren.org
7176879407
Backup
Joelle Williamson, MPH
jwilliamson@clinicforspecialchildren.org
7176879407
Time Frame
Start Date: 2018-09-23
Estimated Completion Date: 2027-06-01
Participants
Target number of participants: 40
Treatments
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.
Related Therapeutic Areas
Sponsors
Leads: Clinic for Special Children