Rare Glycogen Storage Diseases Natural History Study

Launched by DUKE UNIVERSITY · Jan 22, 2025

Keywords

ClinConnect Summary

The Rare Glycogen Storage Diseases Natural History Study is a clinical trial that aims to gather important medical information about several very rare conditions known as Glycogen Storage Diseases (GSDs). These include types like GSD 0A, 0B, VII, X, XII, XIII, XV, and others such as Danon disease. The study is currently looking for participants of all ages, from newborns to adults, who have been diagnosed with one of these GSDs. To qualify, individuals need to have specific genetic variations related to their condition and may need to show evidence of enzyme deficiency related to their disease.

Participants in this study can expect to share their medical history and possibly undergo tests to help researchers understand these rare diseases better. The goal is to learn more about how these conditions affect people over time, which can lead to improved treatments and care in the future. If you or a loved one has a diagnosed rare GSD and can provide consent, you may be eligible to participate in this valuable research.

Gender

ALL

Eligibility criteria

• 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