Scientists launch study to track rare Energy-Storage diseases

NCT ID NCT06795152

Recruiting now Knowledge-focused Sponsor: Duke University Source: ClinicalTrials.gov ↗

First seen Jan 11, 2026 · Last updated Jun 19, 2026 · Updated 28 times

Summary

This study aims to collect and analyze medical information from 200 people with ultra-rare glycogen storage diseases (GSDs), including types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will track how these conditions progress over time by reviewing medical records. No new treatments or medications are being tested; the goal is to better understand these rare diseases.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••
Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

Duke University
RECRUITING

Durham, North Carolina, 27710, United States

Contact Phone: •••-•••-•••• Email: •••••@•••••

Contact

Conditions

The condition(s) this trial relates to.

Danon disease disorder of glycogen metabolism glycogen storage disease due to aldolase A deficiency glycogen storage disease due to muscle and heart glycogen synthase deficiency glycogen storage disease due to muscle beta-enolase deficiency glycogen storage disease due to phosphoglycerate mutase deficiency glycogen storage disease VII glycogen storage disorder due to hepatic glycogen synthase deficiency polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy type 2

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

DANON DISEASE GLYCOGEN STORAGE DISEASE GSD TYPE 0A GSD TYPE 0B GSD VII GSD X GSD XII GSD XIII GSD XV PGBM2 POLYGLUCOSAN BODY MYOPATHY TYPE 1 POLYGLUCOSAN BODY MYOPATHY TYPE 2 PRKAG2 RBCK1 DEFICIENCY TARUI DISEASE