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RecruitingNCT07908212NEURO-GSDUpdated Nov 2, 2026

Neurocognitive Function and Neuroimaging Features in Patients With Glycogen Storage Diseases

An observational study in Glycogen Storage Disease, sponsored by Peking Union Medical College Hospital. Recruiting at 1 site in China. Open to participants aged 3 Years to 40 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-02.

Sponsored by Peking Union Medical College Hospital · Observational

From the registry’s dates

  • Started Mar 2025; still recruiting 1 year 7 months later.
Updated Nov 2, 2026Newly registeredGo to Updates ↓
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
318
Ages
3 Years to 40 Years
Sex
All
01

Study 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 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
02

Conditions studied

  • Glycogen Storage Disease
03

In context

Glycogen Storage Disease

36 studies on the registry are indexed under Glycogen Storage Disease; 13 are open to participants now.

This study's planned enrollment of 318 is above the median of 85 across 16 observational studies indexed under Glycogen Storage Disease.

Browse Glycogen Storage Disease studies →

Lead sponsor

Peking Union Medical College Hospital is the lead sponsor of 1,155 studies on the registry; 475 are open to participants now.

Of its 5 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
3 Years to 40 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • Concurrent diagnosis of other neurological disorders
  • Presence of factors that may cause central nervous system (CNS) injury, such as premature birth or head trauma
  • to magnetic resonance imaging
  • Inability of the patient or their family members to understand the conditions and objectives of this study
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Contraindication

A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
318 participants (estimated)
Patient registry
No

Groups and cohorts

  • GSD group

    Patients with glycogen storage disease

  • Control group

    Healthy controls

06

What researchers measure

Primary outcomes

  1. 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)

    Time frame: Baseline, and follow-up through study completion, an average of 1 year

Secondary outcomes

  1. Cerebral Blood Flow

    Cerebral blood flow quantified from arterial spin labeling (ASL) MRI

    Time frame: Baseline, and follow-up through study completion, an average of 1 year

  2. Cerebral Small Vessel Disease

    Presence of MRI Markers of Cerebral Small Vessel Disease, including white matter hyperintensities, lacunes, cerebral microbleeds, and enlarged perivascular spaces

    Time frame: Baseline, and follow-up through study completion, an average of 1 year

  3. Brain Volume

    Total and regional brain volumes quantified from three-dimensional T1-weighted MRI

    Time frame: Baseline, and follow-up through study completion, an average of 1 year

Other outcomes

  1. Brain Metabolites

    Brain metabolite levels (NAA, Cho, mI, Cr) measured by magnetic resonance spectroscopy in specified brain regions

    Time frame: Baseline, and follow-up through study completion, an average of 1 year

07

Study locations

1 of 1 sites recruiting
08

Updates

1 registry update since Sep 25, 2026
Registered
First appeared on the registry. No changes since
Nov 2, 2026
Show all 1 update
  1. Nov 2, 2026
    First appeared on the registry

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

09

Registry details

Key details

Study ID
NCT07908212
Responsible party
Sponsor
First posted
Nov 2, 2026
Start date
Mar 18, 2025
Primary completion
Dec 31, 2026 (estimated)
Completion
Dec 31, 2029 (estimated)
Last update
Nov 2, 2026

Study contacts

Chang Liu
Contact
rosajessica@126.com
+86 18813105716

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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