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Titinopathy with congenital contractures

MONDO:0100497

A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.

37 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8) Hereditary neurological disease (5)

Trials to join now! 18 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC