RECRUITING

GSD VI and GSD IX Natural History

Conditions

Glycogen Storage Disease VI GLYCOGEN STORAGE DISEASE IXa1 GLYCOGEN STORAGE DISEASE IXa2 Glycogen Storage Disease IXB Glycogen Storage Disease IXC GSD 9 (All Subtypes)GSD 6

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

GSD VI and GSD IX Natural History

Quick Facts

Study Start:2020-09-18

Study Completion:2030-01-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT04454216

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:0 Years to 90 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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	* Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Inclusion Criteria

Exclusion 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

* Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent

Contacts and Locations

Study Contact

Rebecca L Koch, PhD, RDN

CONTACT

919-681-8823

rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

CONTACT

919-668-3107

nisha.dalal@duke.edu

Principal Investigator

Priya Kishnani, MD

PRINCIPAL_INVESTIGATOR

Duke University

Study Locations (Sites)

Duke University

Durham, North Carolina, 27710

United States

Collaborators and Investigators

Sponsor: Duke University

Priya Kishnani, MD, PRINCIPAL_INVESTIGATOR, Duke University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-09-18

Study Completion Date2030-01-01

Study Record Updates

Study Start Date2020-09-18

Study Completion Date2030-01-01

Terms related to this study

Additional Relevant MeSH Terms

Glycogen Storage Disease VI
GLYCOGEN STORAGE DISEASE IXa1
GLYCOGEN STORAGE DISEASE IXa2
Glycogen Storage Disease IXB
Glycogen Storage Disease IXC
GSD 9 (All Subtypes)
GSD 6