Glycogen Storage DiseaseNCT06795152
Rare Glycogen Storage Diseases Natural History Study
An observational study of Glycogen Storage Disease and GSD Type 0A, run by Duke University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 90 years
- Conditions the study is for
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Dec 2024to Dec 2034
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Show all 9Show fewer
- 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
Who cannot join
- Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Duke University
Durham, North Carolina, 27710
Nisha Dalal, MS CCC-SLP, 919-668-3107, nisha.dalal@duke.edu
Priya Kishnani, M.D.
About this 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.
Read the 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.
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII, Tarui Disease, GSD X
- Being tested
- No intervention
- Keywords
- glycogen storage disease, GSD, Tarui disease, Polyglucosan Body Myopathy Type 2, PGBM2, PRKAG2, Danon disease, Polyglucosan Body Myopathy Type 1, RBCK1
- Medical subject headings
- Glycogen Storage Disease, Glycogen Storage Disease Type VII, Dimauro disease, Glycogen Storage Disease XII, Glycogen Storage Disease XIII, Glycogen Storage Disease Type IIb
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
Observational. Natural history study.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Progression of disease confirmed by medical record review
Measured: through study completion, an average of 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2025
- Study start23 Dec 2024
- Primary completionDec 2034 (estimated)
- Study completionDec 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage DiseaseStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Priya Kishnani, M.D., Principal investigator, Duke
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06795152
- Sponsor's protocol ID
- Pro00115144
- Status last verified
- Jan 2026
- First submitted
- 22 Jan 2025
- Last updated
- 7 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No