Glycogen Storage Disease Type IVNCT02683512
GBE Deficiency (GSD IV and APBD) Natural History Study
An observational study of Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease, run by Duke University at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 0 to 90 years
- Conditions the study is for
- Glycogen Storage Disease Type IV, Adult Polyglucosan Body Disease, GSD4
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2015to Dec 2035
- How long will I take part?
- 20 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with GBE deficiency, diagnosed as GSD IV or APBD, regardless of gender or ethnicity, are eligible for enrollment.
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
Rebecca L Koch, PhD, RDN, 919-681-8823, rebecca.koch@duke.edu
Nisha Dalal, M.S. CCC-SLP, 919-668-3107, nisha.dalal@duke.edu
About this study
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.
Read the detailed description
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.
- Being tested
- No intervention
- Medical subject headings
- Glycogen Storage Disease Type IV, Polyglucosan Body Disease, Adult Form
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
This is an observational study that consists of data abstraction from patient medical records.
What is being measured
The primary outcome is the main question the study is designed to answer.
Progression of disease
Measured: Duration of study, approximately 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2016 (estimated)
- Study startDec 2015
- Primary completionDec 2035 (estimated)
- Study completionDec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Glycogen Storage Disease Type IVStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 200 participants (estimated)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Priya Kishnani, MD, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02683512
- Sponsor's protocol ID
- Pro00060753
- Status last verified
- May 2026
- First submitted
- 4 Feb 2016
- Last updated
- 5 May 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS. Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. JCI Insight. 2024 May 14;9(12):e177722. doi: 10.1172/jci.insight.177722.
PubMed 38912588
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GBE Deficiency (GSD IV and APBD) Natural History Study
- ClinicalTrials.gov ID
- NCT02683512
- Acronym / sponsor ID
- Pro00060753
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- Dec 2015
- Primary completion
- Dec 2035 (estimated)
- Study completion
- Dec 2035 (estimated)
- First posted
- 17 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 20 Years
Who may qualify
- Ages
- 0 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with GBE deficiency, diagnosed as GSD IV or APBD, regardless of gender or ethnicity, are eligible for enrollment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionThis is an observational study that consists of data abstraction from patient medical records. | Other | – |
Primary outcome
Progression of disease
Time frame: Duration of study, approximately 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 May 2026.
- Derived from this study: PubMed 38912588Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS. Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. JCI Insight. 2024 May 14;9(12):e177722. doi: 10.1172/jci.insight.177722.
- Individual participant dataSharing planned: No
Related trials for Glycogen Storage Disease Type IV
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Priya Kishnani, MD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rebecca L Koch, PhD, RDN (919-681-8823, rebecca.koch@duke.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Progression of disease (time frame: Duration of study, approximately 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02683512, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 May 2026.