GSD VI and GSD IX Natural History

Recruiting

• Conditions: Glycogen Storage Disease VI; Glycogen Storage Disease IXC; GSD 6; GLYCOGEN STORAGE DISEASE IXa2; GLYCOGEN STORAGE DISEASE IXa1; Glycogen Storage Disease IXB; GSD 9 (All Subtypes)

• Registration Number: NCT04454216
• Lead Sponsor: Duke University

Brief Summary

Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.

Detailed Description

This natural history study will serve as a repository of clinical, laboratory, and biochemical information on individuals with GSD VI or GSD IX. This information will allow a more definitive description of glycogen phosphorylase (GP) and phosphorylase kinase (PhK) deficiency to be developed, which will permit development of treatment strategies for these diseases.

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 the 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 and/or muscle testing, and urine and blood laboratory results.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2020-06-29
• Study First Submitted QC: 2020-06-29
• Study First Posted: 2020-07-01
• Study Start: 2020-09-18
• Status Verified: 2024-05
• Last Update Submitted: 2024-06-05
• Last Update Posted: 2024-06-06
• Primary Completion: 2030-01-01
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 400

Inclusion Criteria

• Diagnosis of GSD VI or GSD IX via:

  • Two variants in the PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB gene (or one variant with evidence of disease). Note: for males, one variant in the PHKA1 or PHKA2 gene is sufficient for inclusion.
  • Deficient GP activity or PhK activity per enzymology
  • Histology as confirmed by clinician

• Pregnant women with a diagnosis of GSD VI or GSD IX will be included

• 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

Exclusion criteria:

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

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of phenotypes presented	through study completion, an average of 10 years
Serum biotinidase activity	through study completion, an average of 10 years
Progression of disease confirmed by medical record review	through study completion, an average of 10 years
Number of genotypes presented	through study completion, an average of 10 years

Trial Locations

Locations (1)

Duke University; 🇺🇸 Durham, North Carolina, United States