RecruitingNot Applicable

GSD VI and GSD IX Natural History

United States400 participantsStarted 2020-09-18

Plain-language 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.

Who can participate

Age range0 Years – 90 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Progression of disease confirmed by medical record review

Timeframe: through study completion, an average of 10 years

Serum biotinidase activity

Timeframe: through study completion, an average of 10 years

Number of genotypes presented

Timeframe: through study completion, an average of 10 years

Number of phenotypes presented

Timeframe: through study completion, an average of 10 years

Trial details

NCT IDNCT04454216

SponsorDuke University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-01-01

Contact for this trial

Rebecca L Koch, PhD, RDN

919-681-8823 rebecca.koch@duke.edu

View on ClinicalTrials.gov More Glycogen Storage Disease VI trials