Silver Russell SyndromeIDMetNCT05945576
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
An observational study of Silver Russell Syndrome and Beckwith-Wiedemann Syndrome, run by Institut National de la Santé Et de la Recherche Médicale, France at 20 sites in France.
Trial summary
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus
- How many people
- 2,000 participants
- Where
- 20 sitesFrance
- Study dates
- 10 Mar 2017to Mar 2028
- 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: All patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
Who may be able to join
- Patients (adults and children) affected with an ID regardless of the severity of the disease
- A confirmed diagnosis of ID (based on molecular diagnosis)
- A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.
- Non-Inclusion Criteria:
- There are no non-inclusion criteria.
Who cannot join
None listed.
Trial locations and contacts
20 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Irène NETCHINE contact
20 sites in 1 country
France20 sites, 20 recruiting
- Not yet recruiting
CHU d'Angers
Angers
Patrice RODIEN
- Not yet recruiting
Hôpital Jean Minjoz
Besançon
Brigitte MIGNOT
- Not yet recruiting
Hôpital Gabriel Montpied
Clermont-Ferrand
Igor TAUVERON
- Recruiting
Hôpital Bicêtre
Le Kremlin-Bicêtre
Agnès LINGLART
- Not yet recruiting
Hôpital Jeanne de Flandre
Lille
Maryse CARTIGNY
- Not yet recruiting
Hôpital de la mère et de l'enfant
Limoges
Anne LIENHARDT ROUSSIE
- Not yet recruiting
Hôpital Femme Mère Enfant
Lyon
Marc NICOLINO
- Recruiting
Hôpital de la Timone
Marseille
Tiffany BUSA
- Not yet recruiting
Hôpital Brabois
Nancy
Bruno LEHEUP
- Not yet recruiting
Hôpital enfant-adolescent
Nantes
Sabine BARON
- Recruiting
Hôpital Armand-Trousseau
Paris
Irène NETCHINE
- Recruiting
Hôpital de la Pitié-Salpêtrière
Paris
Delphine HERON
- Recruiting
Hôpital de la Pitié-Salpêtrière
Paris
Christine POITOU-BERNERT
- Recruiting
Hôpital Necker Enfants Malades
Paris
Graziella PINTO
- Not yet recruiting
Hôpital Robert Debré
Paris
Nicolas DE ROUX
- Recruiting
Hôpital Sud
Rennes
Sylvie ODENT
- Not yet recruiting
Hôpital Civil
Strasbourg
Nathalie GAUTHIER-JEANDIDIER
- Recruiting
Hôpital des Enfants
Toulouse
Maithé TAUBER
- Not yet recruiting
Hôpital des Enfants
Toulouse
Jean-Pierre SALLES
- Not yet recruiting
Hôpital Bretonneau
Tours
Peggy PIERRE
About this study
Official title: National Cohort on Imprinting Disorders and Their Metabolic Consequences
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
The main questions it aims to answer are:
- Can we identify common metabolic profiles for all imprinted diseases?
- Which imprinting disorders have an impact on the metabolic profiles of IDs?
- Which are the metabolic risks associated to IDs?
- Can we use the metabolic profiles for the clinical classification and prognosis of IDs?
- Are there common therapeutic approaches for all IDs?
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome, Prader-Willi Syndrome, Temple Syndrome
- Medical subject headings
- Silver-Russell Syndrome, Beckwith-Wiedemann Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Temple syndrome, Uniparental disomy, paternal, chromosome 14, Pseudohypoparathyroidism, Puberty, Precocious
What is being measured
The primary outcome is the main question the study is designed to answer.
The clinical characteristics of IDs in pediatric and adult's patients.
Measured: Through study completion, an average of 10 years
The genetic characteristics of IDs in pediatric and adult's patients.
Measured: Through study completion, an average of 10 years
The biological characteristics of IDs in pediatric and adult's patients.
Measured: Through study completion, an average of 10 years
The morphometric characteristics of IDs in pediatric and adult's patients.
Measured: Through study completion, an average of 10 years
Secondary outcomes (6)
Search for an association between the metabolic phenotype of IDs patients' and their biological profil.
Measured: At the time of diagnosis (or at first measurement)
Determination of the prevalence of metabolic abnormalities (MA).
Measured: At inclusion
Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.
Measured: 10 years after
Description of different therapeutic approaches and identification of a common base for all IDs.
Measured: Through study completion, an average of 10 years
Variations of quality-of-life scores.
Measured: Through study completion, an average of 10 years
Analyse of (epi)genetic mutations transmission in proband and relatives.
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 posted14 Jul 2023
- Study start10 Mar 2017
- Primary completionMar 2028 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Silver Russell SyndromeStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Other
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Agnès LINGLART, Principal investigator, Inserm U1169
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05945576
- Sponsor's protocol ID
- C15-63
- Acronym
- IDMet
- Status last verified
- Feb 2026
- First submitted
- 26 Jun 2023
- Last updated
- 12 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Cohort on Imprinting Disorders and Their Metabolic Consequences
- ClinicalTrials.gov ID
- NCT05945576
- Acronym / sponsor ID
- IDMet / C15-63
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome, Prader-Willi Syndrome, Temple Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 10 Mar 2017 (actual)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- Mar 2028 (estimated)
- First posted
- 14 Jul 2023 (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 describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
The main questions it aims to answer are:
- Can we identify common metabolic profiles for all imprinted diseases?
- Which imprinting disorders have an impact on the metabolic profiles of IDs?
- Which are the metabolic risks associated to IDs?
- Can we use the metabolic profiles for the clinical classification and prognosis of IDs?
- Are there common therapeutic approaches for all IDs?
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
Key inclusion criteria (5 listed)
- Patients (adults and children) affected with an ID regardless of the severity of the disease
- A confirmed diagnosis of ID (based on molecular diagnosis)
- A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.
- There are no non-inclusion criteria.
Key exclusion criteria (0 listed)
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
The clinical characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The genetic characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The biological characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
The morphometric characteristics of IDs in pediatric and adult's patients.
Time frame: Through study completion, an average of 10 years
6 secondary outcomes
Search for an association between the metabolic phenotype of IDs patients' and their biological profil.
Time frame: At the time of diagnosis (or at first measurement)
Determination of the prevalence of metabolic abnormalities (MA).
Time frame: At inclusion
Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.
Time frame: 10 years after
Description of different therapeutic approaches and identification of a common base for all IDs.
Time frame: Through study completion, an average of 10 years
Variations of quality-of-life scores.
Time frame: Through study completion, an average of 10 years
Analyse of (epi)genetic mutations transmission in proband and relatives.
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 12 Feb 2026.
Related trials for Silver Russell Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Not yet recruitingObservational study
Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology
Syndrome, Russell Silver
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.
Irène NETCHINE contact
Agnès LINGLART principal investigator
Inserm U1169
20 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Silver Russell Syndrome and Beckwith-Wiedemann Syndrome, run by Institut National de la Santé Et de la Recherche Médicale, France at 20 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 5 inclusion and 0 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 12 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 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?
Contact Agnès LINGLART (+33 1 45 21 78 53, agnes.linglart@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The clinical characteristics of IDs in pediatric and adult's patients. (time frame: Through study completion, an average of 10 years). The study lists 4 primary outcomes in all. 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 12 Feb 2026.