Rare Glycogen Storage Diseases Natural History Study

ConditionsGlycogen 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age0-90

SponsorDuke University

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.

Eligibility criteria

Qualifiers

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

Disqualifiers

Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Trial design

Treatments tested in this trial

No intervention

Treatment groups

200 Participants

are divided into 1 treatment group

Sponsors and collaborators

Duke University

Lead sponsor

Source ClinicalTrials.gov