International Natural History Study of TNNT1-Related Muscle Disease in Children and Adults

What this Trial Is About

Researchers are studying the natural progression and variations of muscle disease caused by genetic changes in the TNNT1 gene, specifically focusing on autosomal recessive TNNT1-associated myopathy, including infantile-onset and childhood-onset forms of nemaline rod myopathy. The study aims to define important outcome measures to support future clinical trials of new treatments. This observational study welcomes children and adults worldwide and includes both prospective and cross-sectional groups. Participants in the prospective group join soon after diagnosis during early infancy and are followed over time with repeated assessments until they reach key study outcomes. Those in the cross-sectional group provide their information once at any time after diagnosis. Assessments include vital signs, physical exams, growth and motor milestone documentation, blood tests, heart ultrasounds echocardiograms, and chest X-rays. These evaluations happen at participants homes, the Clinic for Special Children, or partnering clinical sites, depending on individual circumstances. During the study, participants undergo regular monitoring of their health and development. The research team collects detailed medical history, physical findings, and growth measurements. The main outcome measured is event-free survival over up to 15 years, with secondary outcomes including motor milestones and overall thriving. The studys duration spans several years, allowing long-term observation of disease progression under current treatments.

WiTNNess - TNNT1 Myopathy Natural History Study