NCT06795152

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
104mo left

Started Dec 2024

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress14%
Dec 2024Dec 2034

Study Start

First participant enrolled

December 23, 2024

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

January 22, 2025

Completed
5 days until next milestone

First Posted

Study publicly available on registry

January 27, 2025

Completed
9.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2034

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2034

Last Updated

January 7, 2026

Status Verified

January 1, 2026

Enrollment Period

9.9 years

First QC Date

January 22, 2025

Last Update Submit

January 5, 2026

Conditions

Glycogen Storage DiseaseGSD Type 0AGSD Type 0BGSD VIITarui DiseaseGSD XGSD XIIGSD XIIIGSD XVPGBM2PRKAG2Danon DiseasePolyglucosan Body Myopathy Type 1Polyglucosan Body Myopathy Type 2RBCK1 Deficiency

Keywords

glycogen storage diseaseGSDTarui diseasePolyglucosan Body Myopathy Type 2PGBM2PRKAG2Danon diseasePolyglucosan Body Myopathy Type 1RBCK1

Outcome Measures

Primary Outcomes (1)

  • Progression of disease confirmed by medical record review

    through study completion, an average of 10 years

Study Arms (1)

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

Interventions

No interventionOTHER

Observational. Natural history study.

Rare GSD (Glycogen Storage Disease)

Eligibility Criteria

Age0 Years - 90 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Duke University

Durham, North Carolina, 27710, United States

RECRUITING

MeSH Terms

Conditions

Glycogen Storage DiseaseGlycogen Storage Disease Type VIIDimauro diseaseGlycogen Storage Disease XIIGlycogen Storage Disease XIIIGlycogen Storage Disease Type IIb

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesMuscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesX-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsCardiomyopathiesHeart DiseasesCardiovascular DiseasesGenetic Diseases, X-Linked

Study Officials

  • Priya Kishnani, M.D.

    Duke

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Rebecca Koch, PhD, RDN

CONTACT

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

Nisha Dalal, MS, CCC-SLP

CONTACT

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

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 22, 2025

First Posted

January 27, 2025

Study Start

December 23, 2024

Primary Completion (Estimated)

December 1, 2034

Study Completion (Estimated)

December 1, 2034

Last Updated

January 7, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will not share

Locations

US(1)