Adult polyglucosan body disease

MONDO:0009897

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

Also known as: APBD, APBN, polyglucosan body disease, adult, polyglucosan body disease, adult form, polyglucosan body neuropathy, adult form

8 clinical trials for this condition and its sub-types, 1 tagged with Adult polyglucosan body disease itself.

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Where it sits in the disease tree

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↑ Hereditary peripheral neuropathy (479) ↑ Glycogen storage disease due to glycogen branching enzyme deficiency (2)

Including sub-types (8) Tagged with Adult polyglucosan body disease (1)

Trials to join now! 1

Researchers track rare disease progression in GSD IV and APBD patients

Knowledge-focused Recruiting now

This study gathers medical information from 200 people with glycogen branching enzyme deficiency, known as GSD IV or APBD. The goal is to learn how these rare diseases progress over time. No new treatments are tested; instead, researchers review clinic records to better understan…

Sponsor: Duke University • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:29 UTC

Adult polyglucosan body disease

Where it sits in the disease tree

Researchers track rare disease progression in GSD IV and APBD patients