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GSD IX Natural History Study

GSD IX Natural History Study

Recruiting
100 years and younger
All
Phase N/A

Overview

GSD IX patients will be consented to this natural history chart review study. Data will be collected from medical charts including, but not limited to: physical examinations, imaging studies, review of systems, age of diagnosis, quality of life surveys, growth delay assessment, metabolic control, dietary analysis, urine and blood labs, muscle strength, lab test results, biopsy specimens, gene sequencing, oligosaccharide and ketone analysis and biotinidase activity levels. Participant's medical charts will be continually reviewed for the duration of the study. If a liver, muscle or skin biopsy sample has been collected, a piece of the sample may be requested and stored for research purposes.

Eligibility

Inclusion Criteria:

  • enzymatically confirmed diagnosis of GSD IX of any variant defined as very low or absent phosphorylase kinase activity in blood RBCs, liver or muscle biopsy.

Exclusion Criteria:

  • No enzymatically confirmed diagnosis of GSD IX

Study details
    Glycogen Storage Disease

NCT04454216

Duke University

16 February 2024

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