GSD VI and GSD IX Natural History

Launched by DUKE UNIVERSITY · Jun 29, 2020

Keywords

ClinConnect Summary

This clinical trial is studying two types of genetic conditions known as Glycogen Storage Disease Type VI (GSD VI) and Glycogen Storage Disease Type IX (GSD IX). The goal is to gather and review important medical information from patients during their clinic visits. This information will help researchers understand how these diseases affect individuals over time, which can lead to better treatments and care.

To participate in the trial, individuals must have a confirmed diagnosis of either GSD VI or GSD IX. This includes those who have specific gene variations linked to these conditions or have been found to have low enzyme activity related to glycogen storage. The trial is open to people of all ages, from newborns to adults, and even includes pregnant women with these diagnoses. Participants will need to provide consent for themselves or for their child or dependent. If you decide to join, you can expect to share your medical history and possibly undergo some evaluations during your clinic visits, helping to contribute to valuable research that could benefit others with these conditions in the future.

Gender

ALL

Eligibility criteria

• 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