IDMet (RaDiCo Cohort) (RaDiCo-IDMet) (IDMet)
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ClinicalTrials.gov Identifier: NCT05945576 |
Recruitment Status :
Recruiting
First Posted : July 14, 2023
Last Update Posted : July 14, 2023
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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?
Condition or disease |
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Silver Russell Syndrome Beckwith-Wiedemann Syndrome Transient Neonatal Diabetes Mellitus Angelman Syndrome Prader-Willi Syndrome Temple Syndrome Kagami-Ogata Syndrome Pseudohypoparathyroidism Familial Precocious Puberty |
Study Type : | Observational |
Estimated Enrollment : | 2000 participants |
Observational Model: | Cohort |
Time Perspective: | Other |
Official Title: | National Cohort on Imprinting Disorders and Their Metabolic Consequences |
Actual Study Start Date : | March 10, 2017 |
Estimated Primary Completion Date : | March 10, 2032 |
Estimated Study Completion Date : | March 10, 2032 |
- 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 ]
- 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 ]
- Identification of different metabolic profile which allow a clinical classification of IDs. [ Time Frame: Through study completion, an average of 10 years ]
- Description and identification of the most relevant biological and clinical practices for diagnostic and follow-up of ID patients. [ Time Frame: Through study completion, an average of 10 years ]
- Identification of a group of French patients with the same characteristics. [ Time Frame: At inclusion ]
- Search of an association between blood metabolic markers, genetic pattern and gut microbiota. [ Time Frame: Through study completion, an average of 10 years ]
- Description of different scientific rational for transferring a therapeutic approach (clinical guidelines) from an ID to another (identification of common phenotype, i.e. metabolic profile). [ Time Frame: Through study completion, an average of 10 years ]
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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05945576
Contact: Agnès LINGLART | +33 1 45 21 78 53 | agnes.linglart@aphp.fr | |
Contact: Irène NETCHINE | irene.netchine@aphp.fr |
Principal Investigator: | Agnès LINGLART | Inserm U1169 |
Responsible Party: | Institut National de la Santé Et de la Recherche Médicale, France |
ClinicalTrials.gov Identifier: | NCT05945576 |
Other Study ID Numbers: |
C15-63 |
First Posted: | July 14, 2023 Key Record Dates |
Last Update Posted: | July 14, 2023 |
Last Verified: | June 2023 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Silver-Russell Syndrome Prader-Willi Syndrome Angelman Syndrome Beckwith-Wiedemann Syndrome Puberty, Precocious Syndrome Disease Pathologic Processes Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Abnormalities, Multiple |
Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Imprinting Disorders Obesity Overweight Overnutrition Nutrition Disorders Gonadal Disorders Endocrine System Diseases Movement Disorders Central Nervous System Diseases Bone Diseases, Metabolic Bone Diseases Musculoskeletal Diseases |