Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

MONDO:0013904

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.

Also known as: POMGNT2 muscular dystrophy-dystroglycanopathy, type A, muscle-eye-brain-POMGNT2 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2, MDDGA8, Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8

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

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Inborn errors of metabolism (42) Human disease (14)

Trials to join now! 33 Not yet recruiting 11 Not yet finished but already full! 7 Completed 13 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, 8

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease