Actively Recruiting
Rare Glycogen Storage Diseases Natural History Study
Led by Duke University · Updated on 2026-01-07
200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are collecting important medical information to better understand several ultra-rare Glycogen Storage Diseases (GSDs), including types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. The goal is to build a detailed natural history database that describes these rare diseases to help guide future treatment strategies. Participants include individuals diagnosed with these rare GSDs, and data will be gathered from multiple sources to capture the full clinical course of each condition. This observational study does not involve any treatment or intervention. Instead, it focuses on collecting data from medical records retrospectively and prospectively. The study is conducted at Duke University but includes participants receiving care elsewhere. Researchers will review medical charts over time to gather clinical, laboratory, biochemical, and imaging information relevant to the participants' conditions. Participants will have their medical records continually reviewed throughout the study, which is expected to last an average of 10 years. Data collected will include demographics, diagnostic details, biopsy results, medical and family history, system reviews, and laboratory tests related to liver, muscle, nerve function, as well as urine and blood tests. The main outcome measured is the progression of the disease as confirmed by ongoing medical record review.
CONDITIONS
Brief Title
Rare Glycogen Storage Diseases Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of a rare glycogen storage disease, including types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, or Danon disease
- Presence of two gene variants for autosomal recessive diseases or one variant for autosomal dominant or X-linked diseases
- Deficient enzyme activity detected in liver, muscle, skin fibroblast, or other tissue
- Clinical evidence of disease confirmed by a clinician
- Histology confirmed by a clinician
- Ability to provide informed consent for self or affected individual
- Ability to provide consent for release of medical records
- Pregnant women diagnosed with a rare glycogen storage disease are included
You will not qualify if you...
- Unable to provide informed consent for participation for self or by legally authorized representative, guardian, or parent/guardian of minor
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 10 years or until study completion
Participants' medical records are continually reviewed to collect clinical, laboratory, and biochemical information relevant to their rare glycogen storage disease.
Trial Site Locations
Total: 1 location
1
Duke University
Durham, North Carolina, United States, 27710
Actively Recruiting
Research Team
R
Rebecca Koch, PhD, RDN
N
Nisha Dalal, MS, CCC-SLP
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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