Clinical Trial: Glycogen Storage Disease Type IV Database

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: Database for Information on Individuals Affected With Glycogen Brancher Deficiency, Also Known as Glycogen Storage Disease Type IV

Brief Summary: Database for information on individuals affected with glycogen brancher deficiency, also known as glycogen storage disease type IV

Detailed Summary:

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.

Sponsor: Duke University

Current Primary Outcome: Progression of disease [ Time Frame: Duration of study, approximately 10 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Duke University

Dates:
Date Received: February 4, 2016
Date Started: December 2015
Date Completion: December 2025
Last Updated: December 1, 2016
Last Verified: November 2016