Rare Glycogen Storage Diseases Natural History Study

Description

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.

Conditions

Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII, Tarui Disease, GSD X, GSD XII, GSD XIII, GSD XV, Polyglucosan Body Myopathy 2, PGBM2, PRKAG2, Danon Disease

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Study Overview

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Study Details

Study overview

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.

Rare Glycogen Storage Diseases Natural History Study

Rare Glycogen Storage Diseases Natural History Study

Condition
Glycogen Storage Disease
Intervention / Treatment

-

Contacts and Locations

Durham

Duke University, Durham, North Carolina, United States, 27710

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

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

Ages Eligible for Study

0 Years to 90 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Duke University,

Priya Kishnani, M.D., PRINCIPAL_INVESTIGATOR, Duke

Study Record Dates

2034-12