WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy

What this Trial Is About

Researchers are conducting the WiTNNess study to document the natural course and variations of muscle disease caused by changes in the TNNT1 gene. This observational study focuses on autosomal recessive TNNT1-associated muscle disease, including infantile-onset and childhood-onset nemaline rod myopathy. The study aims to identify meaningful outcome measures for future clinical trials evaluating new disease-modifying therapies. WiTNNess welcomes children and adults worldwide to participate. The study has two groups: a prospective cohort and a cross-sectional cohort. The prospective group enrolls participants shortly after diagnosis during early infancy and follows them over time with repeated assessments until they reach the primary study outcome. The cross-sectional group includes participants who join at any time after diagnosis and contribute data during a single assessment. Assessments may occur at home, the Clinic for Special Children, or partnering sites, depending on participant needs. Participants undergo various assessments such as vital signs, physical exams, growth measurements, motor milestone documentation, and blood tests. Some may have non-invasive heart ultrasound and chest X-rays. Those in the prospective cohort have ongoing follow-up, while cross-sectional participants provide information once. The primary outcome measured is event-free survival over up to 15 years, with secondary outcomes including motor milestones and thriving. The study involves close monitoring to understand disease progression under current treatments.

WiTNNess - TNNT1 Myopathy Natural History Study