Rare Glycogen Storage Diseases Natural History Study (NCT06795152) | Clinical Trial Compass
RecruitingNot Applicable
Rare Glycogen Storage Diseases Natural History Study
United States200 participantsStarted 2024-12-23
Plain-language summary
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.
Who can participate
Age range0 Years – 90 Years
SexALL
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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
What they're measuring
1
Progression of disease confirmed by medical record review
Timeframe: through study completion, an average of 10 years