GSD VI and GSD IX Natural History

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational [Patient Registry]
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 90
Healthy Volunteers: No
View:

• 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

Locations
United States
North Carolina
Duke University
Recruiting
Durham
Contact Information
Primary
Rebecca L Koch, PhD, RDN
rebecca.koch@duke.edu
919-681-8823
Backup
Leticia Flores
leticia.flores@duke.edu
919-660-7269
Time Frame
Start Date: September 18, 2020
Estimated Completion Date: April 2030
Participants
Target number of participants: 400
Sponsors
Collaborators: Kriya Therapeutics
Leads: Duke University

This content was sourced from clinicaltrials.gov

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