RecruitingNCT06795152

Rare Glycogen Storage Diseases Natural History Study

Sponsor

Duke University

Enrollment

200 participants

Start Date

Dec 23, 2024

Study Type

OBSERVATIONAL

Conditions

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

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.

Eligibility

Min Age: 0 YearsMax Age: 90 Years

Inclusion Criteria9

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