Glycogen Storage DiseaseNEURO-GSDNCT07908212
Neurocognitive Function and Neuroimaging Features in Patients With Glycogen Storage Diseases
An observational study of Glycogen Storage Disease, run by Peking Union Medical College Hospital at 1 site in China.
Trial summary
The goal of this observational study is to learn about cognitive function and brain imaging findings in people with glycogen storage disease (GSD). The main questions it aims to answer are: Do people with GSD perform differently on cognitive tests from people without GSD? Do brain volume, brain structure, intracranial… Read more about this study
- Who is it for?
- Ages 3 to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Glycogen Storage Disease
- How many people
- 318 participants
- Where
- 1 siteChina
- Study dates
- 18 Mar 2025to 31 Dec 2029
- 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 3 to 40 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: We enroll individuals diagnosed with glycogen storage disease who are able to complete cognitive assessments and brain MRI, and healthy volunteers matched for age and sex.
Who may be able to join
- GSD group:
- Meeting the diagnostic criteria for GSD
- Having relatively complete clinical data
- Able to cooperate with cognitive assessments and neuroimaging examinations
- Control group:
- Age within 5 years of GSD patients, matched for sex, and with similar educational level
- No diagnosis of GSD
- No chronic metabolic diseases such as hypertension, diabetes mellitus, or hyperlipidemia; no history of heavy smoking or alcohol drinking; and no history of hypoglycemia in childhood
Who cannot join
- Concurrent diagnosis of other neurological disorders
- Presence of factors that may cause central nervous system (CNS) injury, such as premature birth or head trauma
- Contraindications to magnetic resonance imaging
- Inability of the patient or their family members to understand the conditions and objectives of this study
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
Peking Union Medical College Hospital
Beijing, Beijing Municipality, 100730
About this study
Official title: A Prospective Observational Study of Neurocognitive Function and Multimodal Brain Magnetic Resonance Imaging in Patients With Glycogen Storage Diseases
The goal of this observational study is to learn about cognitive function and brain imaging findings in people with glycogen storage disease (GSD). The main questions it aims to answer are:
- Do people with GSD perform differently on cognitive tests from people without GSD?
- Do brain volume, brain structure, intracranial blood vessels, and blood flow differ between the two groups, and are these findings related to cognitive test results or measures of metabolic control? Researchers will compare people with GSD with healthy volunteers of similar age and sex. No treatment will be assigned as part of the study.
Read more
Participants will:
- Complete cognitive tests
- Have a brain magnetic resonance imaging (MRI) scan using a 3-tesla scanner
- Provide relevant medical history and clinical information
- Conditions
- Glycogen Storage Disease
- Medical subject headings
- Glycogen Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| GSD group | Patients with glycogen storage disease | |
| Control group | Healthy controls |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cognitive impairment
IQ<70 assessed by cognitive tests (Wechsler Intelligence Scale for patients younger than 16 years old, Raven's Progressive Matrices for patients older than 16)
Measured: Baseline, and follow-up through study completion, an average of 1 year
Secondary outcomes (3)
Cerebral Blood Flow
Cerebral blood flow quantified from arterial spin labeling (ASL) MRI
Measured: Baseline, and follow-up through study completion, an average of 1 year
Cerebral Small Vessel Disease
Presence of MRI Markers of Cerebral Small Vessel Disease, including white matter hyperintensities, lacunes, cerebral microbleeds, and enlarged perivascular spaces
Measured: Baseline, and follow-up through study completion, an average of 1 year
Brain Volume
Total and regional brain volumes quantified from three-dimensional T1-weighted MRI
Measured: Baseline, and follow-up through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Nov 2026
- Study start18 Mar 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage DiseaseStudies of the same condition, open and under way.
- More trials run by Peking Union Medical College HospitalThe 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
- Prospective
- Enrolment
- 318 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking Union Medical College Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07908212
- Sponsor's protocol ID
- K7291
- Acronym
- NEURO-GSD
- Status last verified
- Oct 2026
- First submitted
- 15 Oct 2026
- Last updated
- 2 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Observational Study of Neurocognitive Function and Multimodal Brain Magnetic Resonance Imaging in Patients With Glycogen Storage Diseases
- ClinicalTrials.gov ID
- NCT07908212
- Acronym / sponsor ID
- NEURO-GSD / K7291
- Conditions
- Glycogen Storage Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 318 participants (estimated)
- Lead sponsor
- Peking Union Medical College HospitalUniversity, hospital or other
- Study start
- 18 Mar 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2029 (estimated)
- First posted
- 2 Nov 2026 (actual)
- 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.
The goal of this observational study is to learn about cognitive function and brain imaging findings in people with glycogen storage disease (GSD). The main questions it aims to answer are:
- Do people with GSD perform differently on cognitive tests from people without GSD?
- Do brain volume, brain structure, intracranial blood vessels, and blood flow differ between the two groups, and are these findings related to cognitive test results or measures of metabolic control? Researchers will compare people with GSD with healthy volunteers of similar age and sex. No treatment will be assigned as part of the study.
Participants will:
- Complete cognitive tests
- Have a brain magnetic resonance imaging (MRI) scan using a 3-tesla scanner
- Provide relevant medical history and clinical information
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| GSD group | – | –Patients with glycogen storage disease |
| Control group | – | –Healthy controls |
Who may qualify
- Ages
- 3 to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- We enroll individuals diagnosed with glycogen storage disease who are able to complete cognitive assessments and brain MRI, and healthy volunteers matched for age and sex.
Key inclusion criteria (8 listed)
- Meeting the diagnostic criteria for GSD
- Having relatively complete clinical data
- Able to cooperate with cognitive assessments and neuroimaging examinations
- Age within 5 years of GSD patients, matched for sex, and with similar educational level
- No diagnosis of GSD
Key exclusion criteria (4 listed)
- Concurrent diagnosis of other neurological disorders
- Presence of factors that may cause central nervous system (CNS) injury, such as premature birth or head trauma
- Contraindications to magnetic resonance imaging
- Inability of the patient or their family members to understand the conditions and objectives of this study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Cognitive impairment
Time frame: Baseline, and follow-up through study completion, an average of 1 year
IQ<70 assessed by cognitive tests (Wechsler Intelligence Scale for patients younger than 16 years old, Raven's Progressive Matrices for patients older than 16)
3 secondary outcomes
Cerebral Blood Flow
Time frame: Baseline, and follow-up through study completion, an average of 1 year
Cerebral Small Vessel Disease
Time frame: Baseline, and follow-up through study completion, an average of 1 year
Brain Volume
Time frame: Baseline, and follow-up through study completion, an average of 1 year
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 2 Nov 2026.
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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.
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, run by Peking Union Medical College Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 4 exclusion criteria. 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 2 Nov 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 China. 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 Chang Liu (+86 18813105716, rosajessica@126.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cognitive impairment (time frame: Baseline, and follow-up through study completion, an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 2 Nov 2026.