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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:
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| Measure | Description | Time Frame |
|---|---|---|
| The clinical characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years | |
| The genetic characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years | |
| The biological characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years | |
| The morphometric characteristics of IDs in pediatric and adult's patients. | Through study completion, an average of 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Search for an association between the metabolic phenotype of IDs patients' and their biological profil. | At the time of diagnosis (or at first measurement) | |
| Determination of the prevalence of metabolic abnormalities (MA). | At inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of different metabolic profile which allow a clinical classification of IDs. | 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. |
Inclusion Criteria:
Non-Inclusion Criteria:
There are no non-inclusion criteria.
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Agnès LINGLART | Contact | +33 1 45 21 78 53 | agnes.linglart@aphp.fr | |
| Irène NETCHINE | Contact | irene.netchine@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Agnès LINGLART | Inserm U1169 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU d'Angers | Not yet recruiting | Angers | France |
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Stool collection
| Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome. | 10 years after |
| Description of different therapeutic approaches and identification of a common base for all IDs. | Through study completion, an average of 10 years |
| Variations of quality-of-life scores. | Through study completion, an average of 10 years |
| Analyse of (epi)genetic mutations transmission in proband and relatives. | Through study completion, an average of 10 years |
| Through study completion, an average of 10 years |
| Identification of a group of French patients with the same characteristics. | At inclusion |
| Search of an association between blood metabolic markers, genetic pattern and gut microbiota. | 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). | Through study completion, an average of 10 years |
| Hôpital Jean Minjoz | Not yet recruiting | Besançon | France |
|
| Hôpital Gabriel Montpied | Not yet recruiting | Clermont-Ferrand | France |
|
| Hôpital Bicêtre | Recruiting | Le Kremlin-Bicêtre | France |
|
| Hôpital Jeanne de Flandre | Not yet recruiting | Lille | France |
|
| Hôpital de la mère et de l'enfant | Not yet recruiting | Limoges | France |
|
| Hôpital Femme Mère Enfant | Not yet recruiting | Lyon | France |
|
| Hôpital de la Timone | Recruiting | Marseille | France |
|
| Hôpital Brabois | Not yet recruiting | Nancy | France |
|
| Hôpital enfant-adolescent | Not yet recruiting | Nantes | France |
|
| Hôpital Armand-Trousseau | Recruiting | Paris | France |
|
| Hôpital de la Pitié-Salpêtrière | Recruiting | Paris | France |
|
| Hôpital de la Pitié-Salpêtrière | Recruiting | Paris | France |
|
| Hôpital Necker Enfants Malades | Recruiting | Paris | France |
|
| Hôpital Robert Debré | Not yet recruiting | Paris | France |
|
| Hôpital Sud | Recruiting | Rennes | France |
|
| Hôpital Civil | Not yet recruiting | Strasbourg | France |
|
| Hôpital des Enfants | Recruiting | Toulouse | France |
|
| Hôpital des Enfants | Not yet recruiting | Toulouse | France |
|
| Hôpital Bretonneau | Not yet recruiting | Tours | France |
|
| ID | Term |
|---|---|
| D056730 | Silver-Russell Syndrome |
| D001506 | Beckwith-Wiedemann Syndrome |
| D017204 | Angelman Syndrome |
| D011218 | Prader-Willi Syndrome |
| C000726750 | Temple syndrome |
| C536471 | Uniparental disomy, paternal, chromosome 14 |
| D011547 | Pseudohypoparathyroidism |
| D011629 | Puberty, Precocious |
| ID | Term |
|---|---|
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D004392 | Dwarfism |
| D000096803 | Imprinting Disorders |
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
| D008664 | Metal Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D002128 | Calcium Metabolism Disorders |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
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