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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

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

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Musculoskeletal system disorder (214) Hereditary disease (188) Peripheral nervous system disorder (119) Neuromuscular disease (110) Peripheral neuropathy (92) Bone disorder (51) Inborn errors of metabolism (47)
Trials to join now! 4 Completed 1 Terminated 1
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  • Laser test could objectively measure nerve pain for first time

    Diagnosis Completed

    This study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…

    Sponsor: University of Utah • Aim: Diagnosis

    Last updated Jun 27, 2026 12:09 UTC

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