Rare Glycogen Storage Diseases Natural History Study
Recruiting
Observational Study
Glycogen Storage Disease
GSD Type 0A
GSD Type 0B
GSD VII
Tarui Disease
GSD X
GSD XII
GSD XIII
GSD XV
PGBM2
PRKAG2
Danon Disease
Polyglucosan Body Myopathy Type 1
Polyglucosan Body Myopathy Type 2
RBCK1 Deficiency
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 0 – 90
- Sex
- Any
- Study type
- Observational
- Participants needed
- 200 (estimated)
- Sponsor
- Duke University · Other
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About This Trial
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.
Trial Locations
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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 auto…
Contacts