Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

MONDO:0014101

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.

Also known as: POMK muscular dystrophy-dystroglycanopathy, type A, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK, MDDGA12, Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12

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

Follow this condition — get notified about new trials

Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Human disease (14) Myopathy (11) Skeletal muscle disorder (8)

Trials to join now! 19 Not yet recruiting 8 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

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease