GBE Deficiency (GSD IV and APBD) Natural History Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-12-31

Study Completion Date

2035-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Natural History of Pompe Disease

NCT03564561

Glycogen Storage Disease Type II, Adult

RECRUITING

French Observatory for Patients with Type 3 Glycogenosis

NCT06616545

Glycogen Storage Disease Type III

RECRUITING

Renal HYPODYSPLASIA : Genetic and Familial Assessment

NCT00925379

Renal HYPODYSPLASIA, Nonsyndromic, 1

COMPLETED

Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers

NCT00188019

Paraganglioma Pheochromocytoma

COMPLETED NA

Hematuria Evaluation Trial for Subjects With Microscopic or Gross Hematuria to Determine the Absence or Presence of Bladder Cancer

NCT00975455

Microscopic or Gross Hematuria

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

This natural history study will serve as a repository of clinical, laboratory, and biochemical information on individuals with GBE deficiency, diagnosed as either GSD IV or APBD. This information will allow a more definitive description of GBE deficiency to be developed, which will permit development of treatment strategies for this disease.

Duke will be the only site where this study takes place. However, since this is a rare disorder, participants who receive care for GBE deficiency at other institutions will be included. We will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of the disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study.

Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Glycogen Storage Disease Type IV Adult Polyglucosan Body Disease GSD4 GSD IV APBD

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

No intervention

This is an observational study that consists of data abstraction from patient medical records.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Diagnosis of GSD IV or APBD via:

* Two variants in the GBE1 gene
* Deficient GBE activity in liver, muscle, skin fibroblast or other tissue
* One variant in GBE1 gene with evidence of disease that is pathogenic, per the clinician
* 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
* Pregnant women with a diagnosis of GSD IV or APBD will be included
* Histology as confirmed by clinician

Minimum Eligible Age

0 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No