Clinical trial Recruiting at 1 site Observational Ages 3 to 40

Glycogen Storage Disease and Brain Function in People Like You

Official title: A Prospective Observational Study of Neurocognitive Function and Multimodal Brain Magnetic Resonance Imaging in Patients With Glycogen Storage Diseases

Run by Peking Union Medical College Hospital · NCT07908212 · Data updated 2026-11-12

This study tests whether people with glycogen storage disease perform differently on cognitive tests and show different brain imaging features compared with healthy peers.

Quick facts

Study typeObservational
Ages3 Years to 40 Years
SexAll
Enrollment318 (estimated)
SponsorPeking Union Medical College Hospital
Academic / other
Locations1 site (Beijing, Beijing Municipality)
StatusRecruiting
StartedMarch 18, 2025
Main results expectedDecember 31, 2026
Study endsDecember 31, 2029
Registry record updatedNovember 2, 2026
Trial IDNCT07908212 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates are individuals with a confirmed GSD diagnosis who can complete cognitive tests and MRI and are willing to share medical history, matched with healthy controls of similar age, sex, and education.

Probably not a fit

Participants without GSD or those unable to complete cognitive testing or MRI may not benefit from the findings.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational study that compares cognitive test results and brain MRI findings between people with glycogen storage disease and age- and sex-matched healthy controls. Participants will complete cognitive assessments, undergo a brain MRI on a 3-tesla scanner, and provide medical history. No treatment is given as part of the study, and researchers will explore relationships between imaging findings, cognitive performance, and metabolic history. The study aims to identify potential brain structure or blood flow differences associated with GSD.

Why it matters

Potential benefit: If differences are found, the results could help guide future research on brain health in glycogen storage disease.

How similar studies have gone: Previous work in similar observational designs has explored brain imaging and cognition in related metabolic conditions, but this exact comparison in GSD is relatively novel.

Who can join: the full rules

Show full inclusion / exclusion criteria
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:

* 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

Where it's running

  • Peking Union Medical College Hospital
    Beijing, Beijing Municipality, China
    Recruiting

Study contacts

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

  • Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

    This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

    Recruiting Chinese Academy of Medical Sciences, Fuwai Hospital · Beijing · NCT07336394

  • Identifying patients with cardiomyopathy for potential heart transplantation

    This study is trying to find new ways to identify and understand cardiomyopathy in patients to better predict if they might need a heart transplant in the future.

    Recruiting IRCCS Azienda Ospedaliero-Universitaria di Bologna · Bologna, Emilia-Romagna/Bologna and 2 other locations · NCT06813443

  • Natural history study of rare glycogen storage diseases

    This study is collecting health information from people with rare glycogen storage diseases to better understand their conditions and help improve future treatments.

    Recruiting Duke University · Durham, North Carolina · NCT06795152

  • Registry for patients with rare diseases

    This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

    Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.