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Glycogen Storage Disease Type IV Database (GSDIVDB)

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ClinicalTrials.gov Identifier: NCT02683512
Recruitment Status : Recruiting
First Posted : February 17, 2016
Last Update Posted : December 6, 2017
Sponsor:
Collaborator:
Information provided by (Responsible Party):

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

Condition or disease Intervention/treatment
Glycogen Storage Disease Type IV Other: No intervention

Detailed Description:

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.


Study Design

Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 10 Years
Official Title: Database for Information on Individuals Affected With Glycogen Brancher Deficiency, Also Known as Glycogen Storage Disease Type IV
Study Start Date : December 2015
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025


Groups and Cohorts

Intervention Details:
    Other: No intervention
    This is an observational study that consists of data abstraction.

Outcome Measures

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

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with GSD-IV regardless of age, gender or ethnicity, are eligible for the database.
Criteria

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
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02683512


Contacts
Contact: Mimi McCarty 9196840398 midori.mccarty@duke.edu
Contact: Loren Pena, MD, PhD 9196819873 loren.pena@duke.edu

Locations
United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Contact: Mimi McCarty    919-684-0398    midori.mccarty@duke.edu   
Contact: Loren Pena, MD, PhD    9196819873    loren.pena@duke.edu   
Principal Investigator: Loren Pena, MD, PhD         
Sponsors and Collaborators
Duke University
Roivant Sciences, Inc.
Investigators
Principal Investigator: Loren Pena, MD, PhD Duke University
More Information

Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT02683512     History of Changes
Other Study ID Numbers: Pro00060753
First Posted: February 17, 2016    Key Record Dates
Last Update Posted: December 6, 2017
Last Verified: December 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Metabolic Diseases
Glycogen Storage Disease
Glycogen Storage Disease Type IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn