Glycogen Storage Disease Type IIINCT06616545
French Observatory for Patients with Type 3 Glycogenosis
An observational study of Glycogen Storage Disease Type III, run by Institut de Myologie, France at 3 sites in France.
Trial summary
Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Glycogen Storage Disease Type III
- How many people
- 150 participants
- Where
- 3 sitesFrance
- Study dates
- 1 Sep 2013to Dec 2026
- How long will I take part?
- 10 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: GSD type 3 patients from French national reference centres
Who may be able to join
- Patients with molecularly characterised Glycogen Storage Disease Type III
Who cannot join
- Patients diagnosed with GSD type 3 refusing to take part in the study
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France3 sites, 3 recruiting
- Recruiting
Aphp Antoine Beclere
Clamart, 92140
Philippe LABRUNE, Pr, +33 1 45 37 42 72, philippe.labrune@aphp.fr
- Recruiting
CHU du Kremlin-Bicêtre
Le Kremlin-Bicêtre, 94270
Antoine GARDIN, MD - PhD, +33 1 45 21 31 69
- Recruiting
Institue of Myology
Paris, 75013
Marion Masingue, MD, +33 (0)1 42 16 37 74, marion.masingue@aphp.fr
About this study
Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients present with liver involvement only (GSD-IIIb). In childhood, the phenotype is mainly characterised by hepatomegaly, short stature and hypoglycaemia, with minimal skeletal muscle involvement. While liver symptoms improve spontaneously around puberty, skeletal muscle weakness develops progressively in adulthood and becomes a major feature of GSD-IIIa.
Currently, there is no treatment other than dietary management tailored to the individual to limit glycogen storage and avoid hypoglycaemia.
Read more
The French GSD-III registry is a multicentre online registry dedicated to patients with type III glycogen storage disease followed in France. It has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic AGL gene mutation and/or reduced glycogen debranching enzyme activity.
The aims of the registry are to provide a tool for recording detailed diagnostic, metabolic, neurological, cardiac and biological data on French patients with GSD-III, so as to enable i) a precise natural history of the disease, ii) identification of the outcome measures most sensitive to disease progression, iii) assessment of the frequency of the various complications of the disease and iv) identification of prognostic factors.
- Conditions
- Glycogen Storage Disease Type III
- Medical subject headings
- Glycogen Storage Disease Type III
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 |
|---|---|---|
| Glycogen Storage Disease Type III | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Fasting period
Measuring changes in the duration of the fasting period
Measured: Through study completion, an average of 10 years
Secondary outcomes (1)
6MWT distance
Measurement of changes in distance covered in the 6-minute walk test.
Measured: Through study completion, an average of 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2024
- Study start1 Sep 2013
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (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 IIIStudies of the same condition, open and under way.
- 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
- 150 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Institut de Myologie, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06616545
- Sponsor's protocol ID
- GSD3 French Registry
- Status last verified
- Sep 2024
- First submitted
- 23 Sep 2024
- Last updated
- 27 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforet P, Decostre V. Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. J Neurol. 2026 May 4;273(5):301. doi: 10.1007/s00415-026-13793-2.
PubMed 42082675
Study at a glance
From the registry record, last updated by the sponsor on 27 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- French Observatory for Patients with Type 3 Glycogenosis
- ClinicalTrials.gov ID
- NCT06616545
- Acronym / sponsor ID
- GSD3 French Registry
- Conditions
- Glycogen Storage Disease Type III
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Institut de Myologie, FranceUniversity, hospital or other
- Study start
- 1 Sep 2013 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 27 Sep 2024 (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.
Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients present with liver involvement only (GSD-IIIb). In childhood, the phenotype is mainly characterised by hepatomegaly, short stature and hypoglycaemia, with minimal skeletal muscle involvement. While liver symptoms improve spontaneously around puberty, skeletal muscle weakness develops progressively in adulthood and becomes a major feature of GSD-IIIa.
Currently, there is no treatment other than dietary management tailored to the individual to limit glycogen storage and avoid hypoglycaemia.
The French GSD-III registry is a multicentre online registry dedicated to patients with type III glycogen storage disease followed in France. It has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic AGL gene mutation and/or reduced glycogen debranching enzyme activity.
The aims of the registry are to provide a tool for recording detailed diagnostic, metabolic, neurological, cardiac and biological data on French patients with GSD-III, so as to enable i) a precise natural history of the disease, ii) identification of the outcome measures most sensitive to disease progression, iii) assessment of the frequency of the various complications of the disease and iv) identification of prognostic factors.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Glycogen Storage Disease Type III | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- GSD type 3 patients from French national reference centres
Key inclusion criteria (1 listed)
- Patients with molecularly characterised Glycogen Storage Disease Type III
Key exclusion criteria (1 listed)
- Patients diagnosed with GSD type 3 refusing to take part in the 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
Fasting period
Time frame: Through study completion, an average of 10 years
Measuring changes in the duration of the fasting period
1 secondary outcome
6MWT distance
Time frame: Through study completion, an average of 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 27 Sep 2024.
- Derived from this study: PubMed 42082675Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforet P, Decostre V. Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. J Neurol. 2026 May 4;273(5):301. doi: 10.1007/s00415-026-13793-2.
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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.
3 sites 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 III, run by Institut de Myologie, France at 3 sites in France.
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 1 inclusion and 1 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 27 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France. 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Fasting period (time frame: Through study completion, an average of 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 NCT06616545, 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 27 Sep 2024.