GSD VI and GSD IX Natural History

• Sponsor: Duke University (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04454216
• Collaborator: (none)
• Enrollment: 100
• Location: 1
• Anticipated Duration (Months): 114.4
• Patients Per Site Per Month: 0.9

Study Details

Study Description

Brief Summary

A natural history study on Glycogen Storage Disease Type VI (GSD VI) and Glycogen Storage Disease Type IX (GSD IX)

Condition or Disease	Intervention/Treatment	Phase
Glycogen Storage Disease VI; GLYCOGEN STORAGE DISEASE IXa1; GLYCOGEN STORAGE DISEASE IXa2; Glycogen Storage Disease IXB; Glycogen Storage Disease IXC	Other: No intervention

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.

Study Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 100 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: GSD VI and GSD IX Natural History
• Actual Study Start Date: Sep 18, 2020
• Anticipated Primary Completion Date: Apr 1, 2030
• Anticipated Study Completion Date: Apr 1, 2030

Outcome Measures

Primary Outcome Measures

1. Progression of disease confirmed by medical record review [through study completion, an average of 10 years]

2. Serum biotinidase activity [through study completion, an average of 10 years]

3. Number of genotypes presented [through study completion, an average of 10 years]

4. Number of phenotypes presented [through study completion, an average of 10 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 0 Years to 90 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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 that is pathogenic, as confirmed by clinician). 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Duke University	Durham	North Carolina	United States	27710

Sponsors and Collaborators

• Duke University

Investigators

• Principal Investigator: Priya Kishnani, MD, Duke University

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Duke University
• ClinicalTrials.gov Identifier: NCT04454216
• Other Study ID Numbers: Pro00104116
• First Posted: Jul 1, 2020
• Last Update Posted: Jul 29, 2022
• Last Verified: May 1, 2022

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Glycogen Storage Disease; Glycogen Storage Disease Type VI; Metabolic Diseases

Study Results

No Results Posted as of Jul 29, 2022