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Rare Glycogen Storage Diseases Natural History Study
RecruitingObservational study
Who can join
Ages 0 to 90 · All sexes
Full 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
About the study
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.
What is being tested
- No intervention (other)
Sponsor: Duke University · Participants: 200 · Started: Dec 23, 2024
Contact the study team
- Rebecca Koch, PhD, RDN · Phone: 919-681-8823
- Nisha Dalal, MS, CCC-SLP · Phone: 919-668-3107
Official record on ClinicalTrials.gov — NCT06795152
Locations in the U.S.
| North Carolina | Duke University, Durham |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.