Rare Glycogen Storage Diseases Natural History Study

Part of paid clinical trials in Durham, North Carolina.

Sponsor
Duke University
Study ID
NCT06795152
Status
Recruiting
Apply to this trial

Conditions

  • Danon Disease
  • GSD Type 0A
  • GSD Type 0B
  • GSD VII
  • GSD X
  • GSD XII
  • GSD XIII
  • GSD XV
  • Glycogen Storage Disease
  • PGBM2
  • PRKAG2
  • Polyglucosan Body Myopathy Type 1
  • Polyglucosan Body Myopathy Type 2
  • RBCK1 Deficiency
  • Tarui Disease

Eligibility Criteria

Sex
ALL
Age
0 Years - 90 Years
Healthy Volunteers
Not accepted

Interventions

  • No intervention — OTHER
    Observational. Natural history study.

Study Details

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.

Key Dates

Start date
Dec 23, 2024
Status verified
Jan 2026
Primary completion
Dec 31, 2034
Completion
Dec 31, 2034

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: 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

Primary Outcome Measure

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

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Duke UniversityDurhamNorth Carolina27710
Nisha Dalal, MS CCC-SLP
[email protected]
919-668-3107
Priya Kishnani, M.D. (PRINCIPAL_INVESTIGATOR)

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Duke University· Durham, NC

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