GSD VI and GSD IX Natural History

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.

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

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Study Details

Study overview

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.

GSD VI and GSD IX Natural History

GSD VI and GSD IX Natural History

Condition
Glycogen Storage Disease VI
Intervention / Treatment

-

Contacts and Locations

Durham

Duke University, Durham, North Carolina, United States, 27710

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.

For general information about clinical research, read Learn About Studies.

Eligibility 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

Ages Eligible for Study

0 Years to 90 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Duke University,

Priya Kishnani, MD, PRINCIPAL_INVESTIGATOR, Duke University

Study Record Dates

2030-01-01