RECRUITINGOBSERVATIONAL
Rare Glycogen Storage Diseases Natural History Study
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.
Who May Be Eligible (Plain English)
Who May Qualify:
- 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 willing to sign a consent form 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
Who Should NOT Join This Trial:
- Unable to provide willing to sign a consent form for participation for one's self or by legally authorized representative/legal guardian/parent
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
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
Treatments Being Tested
OTHER
No intervention
Observational. Natural history study.
Locations (1)
Duke University
Durham, North Carolina, United States