Natural history study of rare glycogen storage diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to collect and analyze medical data on several ultra-rare glycogen storage diseases (GSDs), including types 0A, 0B, VII, and others. The research will create a natural history database that compiles clinical, laboratory, and biochemical information from individuals diagnosed with these rare disorders. Data will be gathered retrospectively from patient charts and prospectively after enrollment, focusing on clinically relevant information such as demographics, diagnostic results, and medical history. The goal is to better characterize the different subtypes of GSDs and inform future treatment strategies.

Why it matters

Who can join: the full rules

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

Where it's running

• Duke University
  Durham, North Carolina, United States Recruiting

Study contacts

• Principal investigator: Priya Kishnani, M.D. — Duke
• Study coordinator: Rebecca Koch, PhD, RDN
• Email: rebecca.koch@duke.edu
• Phone: 919-681-8823

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.