RECRUITING

Rare Glycogen Storage Diseases Natural History Study

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Conditions

Glycogen Storage DiseaseGSD Type 0AGSD Type 0BGSD VIITarui DiseaseGSD XGSD XIIGSD XIIIGSD XVPolyglucosan Body Myopathy 2PGBM2PRKAG2Danon DiseaseGSD

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

Rare Glycogen Storage Diseases Natural History Study

Quick Facts

Study Start:2024-12-23
Study Completion:2034-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06795152

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.

Ages Eligible for Study:0 Years to 90 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease
  2. * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases)
  3. * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases)
  4. * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue
  5. * One variant in causative gene with evidence of disease, per a clinician
  6. * Histology as confirmed by a clinician
  7. * Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)
  8. * Able to provide consent for release of medical records
  9. * Pregnant women with a diagnosis of a rare GSD will be included
  1. * Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Contacts and Locations

Study Contact

Nisha Dalal, MS CCC-SLP
CONTACT
919-668-3107
nisha.dalal@duke.edu
Rebecca Koch, PhD, RDN
CONTACT
919-681-8823
rebecca.koch@duke.edu

Principal Investigator

Priya Kishnani, M.D.
PRINCIPAL_INVESTIGATOR
Duke

Study Locations (Sites)

Duke University
Durham, North Carolina, 27710
United States

Collaborators and Investigators

Sponsor: Duke University

  • Priya Kishnani, M.D., PRINCIPAL_INVESTIGATOR, Duke

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-12-23
Study Completion Date2034-12

Study Record Updates

Study Start Date2024-12-23
Study Completion Date2034-12

Terms related to this study

Keywords Provided by Researchers

  • glycogen storage disease
  • GSD
  • Tarui disease
  • Polyglucosan Body Myopathy 2
  • PGBM2
  • PRKAG2
  • Danon disease

Additional Relevant MeSH Terms

  • 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