Glycogen Storage Disease Type IV Database

The long term goal of the proposed project is to develop a repository of information with the
long term goal of expanding the understanding of the disease manifestation and natural
history of GSD IV.

Specific Aims: To establish a repository of clinical, laboratory, and biochemical information
on individuals diagnosed with glycogen brancher enzyme deficiency. In the long term, this
information will permit a better understanding of the long term complications and clinical
course in GBE deficiency.

The medical records will be reviewed and participant information will be collected using
REDCap™ software, hosted through the Duke Translational Medicine Institute (DTMI). The
database will serve as the repository for retrospective and prospective clinical information
and results on all participants.

Data to be collected: Name, DOB, Sex, Age, Method of diagnosis, Liver, skin, or muscle biopsy
histology, Initial symptoms and/or reason for referral, Past medical history, Past surgical
history, Family history, Pregnancy history, Developmental history, Developmental assessments,
and Results of liver function testing. All patients with GSD-IV regardless of age, gender or
ethnicity, are eligible for the database.

This research project will enroll individuals from outside institutions. The goal is increase
the robustness of data collection and analysis with a large number of participants.

Inclusion Criteria:

- Age range newborn through adult (0-90 years)

- diagnosis of GSD IV (including the classic liver form, fetal akinesia, neonatal
arthrogryposis, and adult polyglucosan disease) via:

- two mutations in the GBE gene

- deficient enzyme activity in liver, skin, or other tissue

- one mutation in GBE gene with evidence of disease that is diagnostic, per the
clinician

- abnormal liver tissue with tubular glycogen suggestive of amylopectin, consistent
with GSD IV per the clinician.

- Pregnant women with a diagnosis of GSD IV or adult polyglucosan disease 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

- Unable to provide consent for release of medical records