AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

โ† Trials
๐Ÿงช

Rare Glycogen Storage Diseases Natural History Study

Recruitingn/aAges 0 Years - 90 YearsAllDuke University
๐Ÿ’ฌ

In plain words

What the trial is, and whether it could suit you

The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases) * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases) * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue * One variant in causative gene with evidence of disease, per a clinician * Histology as confirmed by a clinician * Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative) * Able to provide consent for release of medical records * Pregnant women with a diagnosis of a rare GSD will be included Exclusion Criteria: * Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
๐Ÿ’Š

What it tests

  • No intervention
๐Ÿ“

Where

1 site
Duke University
Durham, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
๐Ÿ›ก๏ธ

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it โ€” not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use ยท Privacy