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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
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

Study Description
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Brief 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 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
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 Design
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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

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. The clinical characteristics of IDs in pediatric and adult's patients. [ Time Frame: Through study completion, an average of 10 years ]
  2. The genetic characteristics of IDs in pediatric and adult's patients. [ Time Frame: Through study completion, an average of 10 years ]
  3. The biological characteristics of IDs in pediatric and adult's patients. [ Time Frame: Through study completion, an average of 10 years ]
  4. The morphometric characteristics of IDs in pediatric and adult's patients. [ Time Frame: Through study completion, an average of 10 years ]

Secondary Outcome Measures :
  1. 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) ]
  2. Determination of the prevalence of metabolic abnormalities (MA). [ Time Frame: At inclusion ]
  3. Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome. [ Time Frame: 10 years after ]
  4. Description of different therapeutic approaches and identification of a common base for all IDs. [ Time Frame: Through study completion, an average of 10 years ]
  5. Variations of quality-of-life scores. [ Time Frame: Through study completion, an average of 10 years ]
  6. Analyse of (epi)genetic mutations transmission in proband and relatives. [ Time Frame: Through study completion, an average of 10 years ]

Other Outcome Measures:
  1. Identification of different metabolic profile which allow a clinical classification of IDs. [ Time Frame: Through study completion, an average of 10 years ]
  2. 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 ]
  3. Identification of a group of French patients with the same characteristics. [ Time Frame: At inclusion ]
  4. Search of an association between blood metabolic markers, genetic pattern and gut microbiota. [ Time Frame: Through study completion, an average of 10 years ]
  5. 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 ]

Eligibility Criteria
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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
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.
Criteria

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.

Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Agnès LINGLART +33 1 45 21 78 53 agnes.linglart@aphp.fr
Contact: Irène NETCHINE irene.netchine@aphp.fr

Locations
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Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Agnès LINGLART Inserm U1169
More Information
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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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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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