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Beta-mannosidosis

MONDO:0009562

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

Also known as: Beta-mannosidase deficiency, beta-mannosidase deficiency, beta-mannosidosis, lysosomal beta-mannosidase deficiency, mannosidosis, beta, MANSB, lysosomal Beta-mannosidase deficiency, mannosidosis, BETA A, lysosomal

71 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) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Bone disorder (47) Inborn errors of metabolism (42)

Trials to join now! 37 Not yet recruiting 10 Not yet finished but already full! 8 Completed 15 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

Beta-mannosidosis

Broader categories

Scientists gather leftover surgical tissue to unlock secrets of bone disease