Rare Glycogen Storage Diseases Natural History Study

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.

Study Overview

• Status: Recruiting
• Conditions: Glycogen Storage Disease; Danon Disease; Tarui Disease; GSD Type 0A; GSD Type 0B; GSD VII; GSD X; GSD XII; GSD XIII; GSD XV; PGBM2; PRKAG2; Polyglucosan Body Myopathy Type 1; Polyglucosan Body Myopathy Type 2; RBCK1 Deficiency
• Intervention / Treatment: Other: No intervention

Detailed Description

The immediate goal of this research is to create a natural history database to collect information from individuals who have a rare GSD. A repository of clinical, laboratory, and biochemical information on individuals with a rare GSD will allow a more definitive description of the different subtypes to be developed, which will permit development of treatment strategies in the future.

Duke will be the only site where this study takes place. However, since these are rare disorders, participants who receive care at other institutions will be included. The investigators will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of their disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study.

Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Rebecca Koch, PhD, RDN; Phone Number: 919-681-8823; Email: rebecca.koch@duke.edu
• Study Contact Backup: Name: Nisha Dalal, MS, CCC-SLP; Phone Number: 919-668-3107; Email: nisha.dalal@duke.edu

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Recruiting
      • Duke University
      • Contact: Nisha Dalal, MS CCC-SLP; Phone Number: 919-668-3107; Email: nisha.dalal@duke.edu
      • Principal Investigator: Priya Kishnani, M.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All patients with rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease regardless of gender or ethnicity, are eligible for enrollment

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Rare GSD (Glycogen Storage Disease); individuals with confirmed diagnosis of rare glycogen storage disease including but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease	Other: No intervention; Observational. Natural history study.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Progression of disease confirmed by medical record review	through study completion, an average of 10 years

Collaborators and Investigators

• Sponsor: Duke University
• Investigators: Principal Investigator: Priya Kishnani, M.D., Duke

Study record dates

Study Major Dates

• Study Start (Actual): December 23, 2024
• Primary Completion (Estimated): December 1, 2034
• Study Completion (Estimated): December 1, 2034

Study Registration Dates

• First Submitted: January 22, 2025
• First Submitted That Met QC Criteria: January 22, 2025
• First Posted (Actual): January 27, 2025

Study Record Updates

• Last Update Posted (Actual): January 7, 2026
• Last Update Submitted That Met QC Criteria: January 5, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: GSD; glycogen storage disease; Tarui disease; PGBM2; PRKAG2; Danon disease; Polyglucosan Body Myopathy Type 2; Polyglucosan Body Myopathy Type 1; RBCK1
• Additional Relevant MeSH Terms: Neurologic Manifestations; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases; Muscular Diseases; Heart Diseases; Neuromuscular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurobehavioral Manifestations; Cardiomyopathies; Intellectual Disability; Genetic Diseases, X-Linked; Muscular Disorders, Atrophic; Carbohydrate Metabolism, Inborn Errors; Muscular Dystrophies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Glycogen Storage Disease; Glycogen Storage Disease Type IIb; Glycogen Storage Disease Type VII; Dimauro disease; Glycogen Storage Disease XII; Glycogen Storage Disease XIII
• Other Study ID Numbers: Pro00115144

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No