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Myopathy due to myoadenylate deaminase deficiency

MONDO:0014220

Also known as: myopathy due to myoadenylate deaminase deficiency, AMP deaminase 1 deficiency, AMP deaminase deficiency, AMPD1 deficiency, MMDD, adenosine monophosphate deaminase 1 deficiency, adenosine monophosphate deaminase deficiency, adenosine monophosphate deaminase-1 deficiency, myopathy due to

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

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Broader categories

Disease (618) Musculoskeletal system disorder (196) Hereditary disease (172) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Skeletal muscle disorder (8) Disease of genetic or genomic mechanism (2) Hereditary skeletal muscle disorder (1) Disease by body system or component (0)

Trials to join now! 18 Not yet recruiting 6 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