Glut1 Deficiency SyndromeMETAglut1NCT03722212
Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test
A study testing METAglut1 in people with Glut1 Deficiency Syndrome and De Vivo Disease, run by METAFORA biosystems at 28 sites in France.
Trial summary
The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease). Read more about this study
- Who is it for?
- Ages 3 months and older
- Conditions the study is for
- Glut1 Deficiency Syndrome, De Vivo Disease, Seizures
- What is being tested?
- METAglut1
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 636 participants
- Where
- 28 sitesFrance
- Study dates
- 24 Sep 2018to 9 Jul 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
None listed.
Who cannot join
- Patients under 3 months of age
- Sickle cell disease S/S
- Abnormal imaging
Trial locations and contacts
28 sites in 1 country.
28 sites in 1 country
France28 sites
Hôpital Larrey- CHU Angers
Angers, 49933
Hôpital Saint Léon
Bayonne, 64109
Hôpital Jean Verdier- APHP
Bondy, 93140
Centre hospitalier Pellegrin_ CHU Bordeaux
Bordeaux, 33076
Hôpital Femme Mere enfant- CHU de Lyon
Bron, 69677
Hospices Civils de Lyon_CHU Lyon
Bron
Hôpital d'Estaing- CHU Clermont-Ferrand
Clermont-Ferrand, 63003
CHU Dijon Bourgogne
Dijon, 21079
Hôpital Raymond Poincaré- APHP
Garches
Hôpital Nord_CHU Grenoble
La Tronche, 38700
Hôpital Jeanne de Flandre _CHRU Lille
Lille
Hôpital de la mère et de l'enfant- CHU Limoges
Limoges, 87042
Hôpital La Timone Enfant- APHM
Marseille, 13385
CHR Metz-Thionville
Metz, 57085
Hôpital Gui de Chauliac- CHU Montpellier
Montpellier, 34295
Hôpital Mère-Enfant_ CHU de Nantes
Nantes
Hôpital la Pitié-Salpêtrière-APHP
Paris, 75013
Hôpital Necker- APHP
Paris, 75015
Hôpital Robert Debré- APHP
Paris, 75019
Hôpital Trousseau- APHP
Paris, 75571
Hôpital Bicêtre- APHP
Paris
Hôpital Sud de Rennes- CHU Rennes
Rennes, 35203
Hôpital de Saint-Nazaire
Saint-Nazaire, 44606
Hôpital Nord, CHU Saint-Etienne
Saint-Priest-en-Jarez, 42270
Hôpital de Hautepierre- CHU Strasbourg
Strasbourg
Hôpital de Tarbes - CH Bigorre
Tarbes, 65013
Hôpital des Enfants- CHU Toulouse
Toulouse, 31059
Hôpital de Clocheville_ CHU Tours
Tours, 37000
About this study
Official title: Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome
The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease).
The blood test will be carried out prospectively on patients presenting with a clinical suspicion of Glut1DS, blindly from the reference strategy, which consists in a lumbar puncture for glycorrhachia measurement, completed by a molecular analysis.
The study will be conducted in more than 40 centers in France on up to 3,000 patients for 2 years.
Read the detailed description
The Glut1 Deficiency Syndrome (Glut1DS) is a debilitating, proteiform neurometabolic disorder caused by an impairment in the glucose transporter Glut1 at the cell surface. Patients suffer from seizures, movement disorders and intellectual disabilities. A timely diagnosis is of prime importance as this haploinsufficiency can be improved by the so-called ketogenic diet.
By diagnosing Glut1DS early, based on symptoms associated with Glut1DS, healthcare providers can prescribe the Keto diet therapy early in the disease progression, which could prevent impairment of central nervous system function caused by the disease. Therefore, an early diagnosis of Glut1DS for its treatment is crucial.
Currently, the disease is very difficult to diagnose correctly and in a timely manner. The current diagnosis practice requires a lumbar puncture in order to determine if hypoglycorrhachia occurs. The diagnosis result is then supported by the detection of a heterozygous pathogenic variant in slc2a1 gene. This diagnosis procedure is time consuming, expensive, and requires a geneticist's data interpretation. Currently, ketogenic diet therapy is the most efficient therapy for Glut1DS.
METAglut1 is a first-in-kind IVD device used to aid in the diagnosis of the Glut1 Deficiency Syndrome (Glut1DS) by quantifying the cell surface expression level of the glucose transporter 1 (Glut1) on circulating human red blood cells. The METAglut1 IVD is primarily intended for use in pediatric patients older than 3 months, of both sexes, of any ethnic origin. The METAglut1 IVD may also be used to aid in the diagnosis of Glut1DS in adults with late onset symptoms.
The METAglut1 IVD is authorized for marketing in the European Union pursuant to the CE mark and is currently being distributed in France.
The study aims to validate the diagnostic performances of METAglut1. It will last for 2 years, more than 40 centers will participate in the study across France. Up to 3,000 patients with symptoms compatible with Glut1DS will be included prospectively; each of them will be tested for METAglut1, in parallel and blindly of the reference strategy. The METAglut1 test is performed by Laboratoire CERBA (Saint-Ouen l'Aumône, France). A retrospective cohort of already diagnosed patients will also be analyzed to add more data. Concordance analysis with the glycorrhachia, the first biochemical dosage involved in the reference strategy, will be performed, and overall diagnostic performances of METAglut1 calculated.
Before to start analysis, a thorough data management plan was implemented with on-site monitoring, automated controls of eCRF and recoding after queries and data reviewing.
- Conditions
- Glut1 Deficiency Syndrome, De Vivo Disease, Seizures, Movement Disorders, Intellectual Disability, Ataxia
- Being tested
- METAglut1
- Keywords
- Glut1 Deficiency Syndrome, Glut1DS
- Medical subject headings
- Glut1 Deficiency Syndrome, Seizures, Movement Disorders, Intellectual Disability, Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
METAglut1Diagnostic test
A blood draw is performed on each patient for the METAglut1 test, and sent to Laboratoire CERBA, Saint-Ouen l'Aumône, France, for sample analysis.
| Study group | Role | What they receive |
|---|---|---|
| Prospective patients | Other | The METAglut1 test is performed on all patients included in the study. In parallel, patients included prospectively (based on a clinical suspicion) benefit from the reference diagnostic strategy through the current practice, starting with a lumbar puncture for glycorrhachia dosage. Receives: Diagnostic Test: METAglut1 |
| Retrospective patients | Other | Patients with confirmed Glut1DS diagnosis Already diagnosed patients are included retrospectively as well as patients with pending diagnosis at inclusion (inconsistent biological or genetic data). Receives: Diagnostic Test: METAglut1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Concordance analysis between METAglut1 and glycorrhachia
This analysis will be performed on patients with a diagnosis of certainty, either positive or negative, in the prospective cohort. For this analysis two subgroups are distinguished:
- Patients with lumbar puncture, molecular analysis of the slc2a1 gene and METAglut1 testing.
- Patients with at least lumbar puncture and METAglut1 testing.
Measured: Up to 6 months
Secondary outcomes (1)
Sensitivity, specificity, positive and negative predictive values of METAglut1
These analysis will be performed on patients with a diagnosis of certainty in the prospective cohort. For this analysis two subgroups are distinguished:.
- Patients with at least lumbar puncture and METAglut1 testing.
- Patients with at least molecular analysis of the slc2a1 gene and METAglut1 testing.
Measured: Up to 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2018
- Study start24 Sep 2018
- Primary completion31 Mar 2021
- Study completion9 Jul 2021
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 Glut1 Deficiency SyndromeStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- The METAglut1 test is performed on each patient, in parallel and blindly of the reference diagnostic strategy which is performed through the current practice (lumbar puncture (LP) performed in the fasting state with glycemia measured right before LP, followed by genetic analyses (targeted slc2a1 analysis or gene panels or whole exome sequencing).
- Masking
- None (open label)
- Enrolment
- 636 participants (actual)
Sponsor and investigators
- Lead sponsor
- METAFORA biosystems
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- European Commission, Assistance Publique - Hôpitaux de Paris, Cemka-Eval, Ministry for Health and Solidarity, France, French National Authority for Health
- Responsible party
- Sponsor
- Investigators
- Fanny Mochel, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03722212
- Sponsor's protocol ID
- 2017-A01473-50
- Acronym
- METAglut1
- Status last verified
- Aug 2022
- First submitted
- 25 Oct 2018
- Last updated
- 1 Dec 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The data that support the findings of this study are available from the corresponding authors on reasonable request. Permissions are required to gain access to the data resources, subject to successful registration and application process.
Publications
Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.
PubMed 28556183
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome
- ClinicalTrials.gov ID
- NCT03722212
- Acronym / sponsor ID
- METAglut1 / 2017-A01473-50
- Conditions
- Glut1 Deficiency Syndrome, De Vivo Disease, Seizures, Movement Disorders, Intellectual Disability, Ataxia
- Keywords
- Glut1 Deficiency Syndrome, Glut1DS
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 636 participants (actual)
- Lead sponsor
- METAFORA biosystemsIndustry (pharma, biotech, devices)
- Collaborators
- European Commission, Assistance Publique - Hôpitaux de Paris, Cemka-Eval, Ministry for Health and Solidarity, France, French National Authority for Health
- Study start
- 24 Sep 2018 (actual)
- Primary completion
- 31 Mar 2021 (actual)
- Study completion
- 9 Jul 2021 (actual)
- First posted
- 26 Oct 2018 (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 study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease).
The blood test will be carried out prospectively on patients presenting with a clinical suspicion of Glut1DS, blindly from the reference strategy, which consists in a lumbar puncture for glycorrhachia measurement, completed by a molecular analysis.
The study will be conducted in more than 40 centers in France on up to 3,000 patients for 2 years.
Detailed description
The Glut1 Deficiency Syndrome (Glut1DS) is a debilitating, proteiform neurometabolic disorder caused by an impairment in the glucose transporter Glut1 at the cell surface. Patients suffer from seizures, movement disorders and intellectual disabilities. A timely diagnosis is of prime importance as this haploinsufficiency can be improved by the so-called ketogenic diet.
By diagnosing Glut1DS early, based on symptoms associated with Glut1DS, healthcare providers can prescribe the Keto diet therapy early in the disease progression, which could prevent impairment of central nervous system function caused by the disease. Therefore, an early diagnosis of Glut1DS for its treatment is crucial.
Currently, the disease is very difficult to diagnose correctly and in a timely manner. The current diagnosis practice requires a lumbar puncture in order to determine if hypoglycorrhachia occurs. The diagnosis result is then supported by the detection of a heterozygous pathogenic variant in slc2a1 gene. This diagnosis procedure is time consuming, expensive, and requires a geneticist's data interpretation. Currently, ketogenic diet therapy is the most efficient therapy for Glut1DS.
METAglut1 is a first-in-kind IVD device used to aid in the diagnosis of the Glut1 Deficiency Syndrome (Glut1DS) by quantifying the cell surface expression level of the glucose transporter 1 (Glut1) on circulating human red blood cells. The METAglut1 IVD is primarily intended for use in pediatric patients older than 3 months, of both sexes, of any ethnic origin. The METAglut1 IVD may also be used to aid in the diagnosis of Glut1DS in adults with late onset symptoms.
The METAglut1 IVD is authorized for marketing in the European Union pursuant to the CE mark and is currently being distributed in France.
The study aims to validate the diagnostic performances of METAglut1. It will last for 2 years, more than 40 centers will participate in the study across France. Up to 3,000 patients with symptoms compatible with Glut1DS will be included prospectively; each of them will be tested for METAglut1, in parallel and blindly of the reference strategy. The METAglut1 test is performed by Laboratoire CERBA (Saint-Ouen l'Aumône, France). A retrospective cohort of already diagnosed patients will also be analyzed to add more data. Concordance analysis with the glycorrhachia, the first biochemical dosage involved in the reference strategy, will be performed, and overall diagnostic performances of METAglut1 calculated.
Before to start analysis, a thorough data management plan was implemented with on-site monitoring, automated controls of eCRF and recoding after queries and data reviewing.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- The METAglut1 test is performed on each patient, in parallel and blindly of the reference diagnostic strategy which is performed through the current practice (lumbar puncture (LP) performed in the fasting state with glycemia measured right before LP, followed by genetic analyses (targeted slc2a1 analysis or gene panels or whole exome sequencing).
| Arm | Type | Receives |
|---|---|---|
| Prospective patients | Other | Diagnostic Test: METAglut1The METAglut1 test is performed on all patients included in the study. In parallel, patients included prospectively (based on a clinical suspicion) benefit from the reference diagnostic strategy through the current practice, starting with a lumbar puncture for glycorrhachia dosage. |
| Retrospective patients | Other | Diagnostic Test: METAglut1Patients with confirmed Glut1DS diagnosis Already diagnosed patients are included retrospectively as well as patients with pending diagnosis at inclusion (inconsistent biological or genetic data). |
Who may qualify
- Ages
- 3 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (0 listed)
Key exclusion criteria (3 listed)
- Patients under 3 months of age
- Sickle cell disease S/S
- Abnormal imaging
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 |
|---|---|---|
| METAglut1A blood draw is performed on each patient for the METAglut1 test, and sent to Laboratoire CERBA, Saint-Ouen l'Aumône, France, for sample analysis. | Diagnostic test | Prospective patients, Retrospective patients |
Primary outcome
Concordance analysis between METAglut1 and glycorrhachia
Time frame: Up to 6 months
This analysis will be performed on patients with a diagnosis of certainty, either positive or negative, in the prospective cohort. For this analysis two subgroups are distinguished: * Patients with lumbar puncture, molecular analysis of the slc2a1 gene and METAglut1 testing. * Patients with at least lumbar puncture and METAglut1 testing.
1 secondary outcome
Sensitivity, specificity, positive and negative predictive values of METAglut1
Time frame: Up to 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2022.
- Background: PubMed 28556183Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.
- METAglut1's project websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No. The data that support the findings of this study are available from the corresponding authors on reasonable request. Permissions are required to gain access to the data resources, subject to successful registration and application process.
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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. This study is not recruiting at the moment.
Fanny Mochel, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
28 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing METAglut1 in people with Glut1 Deficiency Syndrome and De Vivo Disease, run by METAFORA biosystems at 28 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 0 inclusion and 3 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: finished, as of the sponsor's last update on 1 Dec 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 28 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Concordance analysis between METAglut1 and glycorrhachia (time frame: Up to 6 months). 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 NCT03722212, 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 1 Dec 2022.