Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT06795152

Conditions

Glycogen Storage Disease

GSD Type 0A

GSD Type 0B

GSD VII

Tarui Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

No intervention

Study Details

Brief 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.

Conditions

Glycogen Storage Disease

GSD Type 0A

GSD Type 0B

GSD VII

Tarui Disease

Study ID

NCT06795152

Start date

Dec 23, 2024

Status verified date

Jan, 2026

Completion date

Dec, 2034

Anticipated

Primary completion date

Dec, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Interventions

No intervention

Observational. Natural history study.

Primary outcome measure

  • Progression of disease confirmed by medical record review [ Time Frame: through study completion, an average of 10 years ]

Central Contacts and Locations

Central contacts

Rebecca Koch, PhD, RDN

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, MS, CCC-SLP

919-668-3107nisha.dalal@duke.edu

Locations

Duke University

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Nisha Dalal, MS CCC-SLP

919-668-3107nisha.dalal@duke.edu

Principal Investigator:

Priya Kishnani, M.D.

More Information

Sponsor

Duke University

Last update posted

Jan 7, 2026

Last verified

Jan, 2026

Keywords

  • glycogen storage disease
  • GSD
  • Tarui disease
  • Polyglucosan Body Myopathy Type 2
  • PGBM2
  • PRKAG2
  • Danon disease
  • Polyglucosan Body Myopathy Type 1
  • RBCK1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2026-01-07.