Actively Recruiting
Rare Glycogen Storage Diseases Natural History Study
Led by Duke University · Updated on 2026-01-07
200
Participants Needed
1
Research Sites
518 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Rare Glycogen Storage Diseases Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Duke University
Durham, North Carolina, United States, 27710
Actively Recruiting
Research Team
R
Rebecca Koch, PhD, RDN
CONTACT
N
Nisha Dalal, MS, CCC-SLP
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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