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| ID | Type | Description | Link |
|---|---|---|---|
| National PHRC 2008 | Other Grant/Funding Number | PHRC 2008 |
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The purpose of this study is to estimate the sensibility at the growth hormone in vivo at the children presenting a Prader-Willi syndrome (SPW) in comparison with children presenting a deficit in growth hormone (GHD).
Estimate the sensibility at the growth hormone in vivo at the children presenting a Prader-Willi syndrome (SPW) in comparison with children presenting a deficit in growth hormone (GHD) by the measure of the circulating rates of IGF-I under treatment.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| SPW | Experimental | Children presenting a Prader-Willi Syndrome |
|
| GHD | Experimental | Patient deficient in Growth Hormone |
|
| SPW-B | Experimental | Patient with Prader-Willi Syndrome who has Biopsy |
|
| T | Experimental | Patient Control |
|
| SPW-GH-B | Experimental | Patient with Prader-Willi Syndrome taking growth Hormone and who has biopsy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Growth hormone (Genotonorm® or Omnitrope®) | Drug | drug : the treatment will be begun in progressive dose by beginning by ¼ of the dose the first week, then ½ of the dose the second week, then 3/4 of the dose the third week and total dose the fourth week. |
| Measure | Description | Time Frame |
|---|---|---|
| Measure of the circulating rates of IGF-I under treatment. | Before starting treatment: baseline (J0) | |
| Measure of the circulating rates of IGF-I under treatment. | 1 month (M1) | |
| Measure of the circulating rates of IGF-I under treatment. | 3 month (M3) | |
| Measure of the circulating rates of IGF-I under treatment. | 6 month (M6) | |
| Measure of the circulating rates of IGF-I under treatment. | 1 year (M12) |
| Measure | Description | Time Frame |
|---|---|---|
| Measure of the circulating rate of IGFBP-3, GHBP, ghrelin and apelin. | Before starting treatment (J0) | |
| Measure of physical composition's variation. | Before starting treatment (J0) | |
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Inclusion Criteria:
SPW and SPW-B :
GHD :
Growth criteria of size (size) < 2 DS) Criteria of speed of growth (speed of growth < 1 DS over the last year) 2 tests of pharmacological stimulation of GH with peak GH max < 20 mUI
T : controls
SPW-GH-B :
Exclusion Criteria:
SPW and GHD
SPW-B:
T : controls
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| Name | Affiliation | Role |
|---|---|---|
| Maithé TAUBER, MD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Amiens Hôpital Nord Service Pédiatrie - Place Victor Pauchet | Amiens | 80054 | France | |||
| CHU Angers - 4 rue Larrey |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24406482 | Result | Cadoudal T, Buleon M, Sengenes C, Diene G, Desneulin F, Molinas C, Eddiry S, Conte-Auriol F, Daviaud D, Martin PG, Bouloumie A, Salles JP, Tauber M, Valet P. Impairment of adipose tissue in Prader-Willi syndrome rescued by growth hormone treatment. Int J Obes (Lond). 2014 Sep;38(9):1234-40. doi: 10.1038/ijo.2014.3. Epub 2014 Jan 10. | |
| 34040195 |
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| DEXA, blood tests, H.G.P.O, osseous age. | Procedure | SPW, GHD, SPW-B : blood tests : centralized dosage H.G.P.O : adjusted to children's age. |
|
| biopsy | Procedure | Biopsy : Cutaneous and fat tissue biopsy. |
|
| Measure of blood sugar level, H.G.P.O., and hyperglycaemia. |
| Before starting treatment (J0) |
| Measure of the sensibility at the growth hormone in vitro, on fibroblasts and adipocytes obtained by biopsy. | Before starting treatment (J0) |
| Measure of the circulating rate of IGFBP-3, GHBP, ghrelin and apelin. | 3 months (M3) |
| Measure of the circulating rate of IGFBP-3, GHBP, ghrelin and apelin. | 6 months (M6) |
| Measure of the circulating rate of IGFBP-3, GHBP, ghrelin and apelin. | 1 year (M12) |
| Measure of physical composition's variation. | 3 months (M3) |
| Measure of physical composition's variation. | 6 months (M6) |
| Measure of physical composition's variation. | 1 year (M12) |
| Measure of blood sugar level, H.G.P.O., and hyperglycaemia. | 3 months (M3) |
| Measure of blood sugar level, H.G.P.O., and hyperglycaemia. | 6 months (M6) |
| Measure of blood sugar level, H.G.P.O., and hyperglycaemia. | 1 year (M12) |
| Measure of the sensibility at the growth hormone in vitro, on fibroblasts and adipocytes obtained by biopsy. | 3 months (M3) |
| Measure of the sensibility at the growth hormone in vitro, on fibroblasts and adipocytes obtained by biopsy. | 6 months (M6) |
| Measure of the sensibility at the growth hormone in vitro, on fibroblasts and adipocytes obtained by biopsy. | 1 year (M12) |
| Angers |
| 49000 |
| France |
| CHG Avignon - 305, rue Raoul Follereau | Avignon | 84902 | France |
| CHU Besançon Hôpital Saint Jacques - 2 Place Saint Jacques | Besançon | 25000 | France |
| CHU Bordeaux Hôpital Pellegrin Service endocrinologie de l'enfant - Place Amélie Raba Léon | Bordeaux | 33076 | France |
| CHU Brest Département de Pédiatrie - 5, ave Foch | Brest | 29609 | France |
| CHU Dijon Service de pédiatrie - 2, Bd Maréchal de lattre de Tassigny | Dijon | 21000 | France |
| CHU Grenoble Service de pédiatrie - BP 217 | Grenoble | 38043 | France |
| CHU La Rochelle Service de Pédiatrie - Rue du Dr Schweitzer | La Rochelle | 17000 | France |
| CHRU Lille Hôpital Jeanne de Flandre service de Pédiatrie | Lille | 59037 | France |
| CHU Limoges Hôpital Mère Enfant Service Pédiatrie - 8, ave du Larrey | Limoges | 87042 | France |
| CHU Lorient Hôpital du Scorff Pôle Femme Mère Enfant - Rue Guiguen | Lorient | 56100 | France |
| CHU Lyon Hôpital Debrousse service Pédiatrie | Lyon | 69322 | France |
| AP-HM Hôptal La Timone Service de Pédiatrie Mutidisciplinaire | Marseille | 13385 | France |
| CHU Montpellier Hôpital Arnaud de Villeneuve - 371 ave du doyen Gaston Giraud | Montpellier | 34000 | France |
| CHU Nantes Hôpital Mère Enfant Service de Pédiatrie | Nantes | 44093 | France |
| CHU Nice Hôpital Archet 2 - 151 route Saint Antoine de Ginestière | Nice | 06202 | France |
| AP-HP Hôpital Necker Enfants Malades Service d'endocrinologie pédiatrique - 149 route de Sèvres | Paris | 75015 | France |
| CHU Poitiers Service de Pédiatrie - Rue de la Miléterie | Poitiers | 86021 | France |
| CHU Reims Service de Pédiatrie - 47, rue Cognacq-Jay | Reims | 51092 | France |
| CHU Rouen Hôpital Nicolle - 1, rue de Germont | Rouen | 76000 | France |
| CHU Saint-Etienne Hôpital Nord Service de Pédiatrie | Saint-Etienne | 42055 | France |
| CHU Strasbourg Hôpital Haute-Pierre - Avenue Molière | Strasbourg | 67200 | France |
| CHU Toulouse Hôpital des Enfants Service d'endocrinologie - 330 ave de Grande Bretagne | Toulouse | 31059 | France |
| CHRU Tours Centre de Pédiatrie Gatien de Clocheville | Tours | 37044 | France |
| Hôpital d'Enfants - Rue Morvan | Vandœuvre-lès-Nancy | 54511 | France |
| Eddiry S, Diene G, Molinas C, Salles J, Auriol FC, Gennero I, Bieth E, Skryabin BV, Rozhdestvensky TS, Burnett LC, Leibel RL, Tauber M, Salles JP. SNORD116 and growth hormone therapy impact IGFBP7 in Prader-Willi syndrome. Genet Med. 2021 Sep;23(9):1664-1672. doi: 10.1038/s41436-021-01185-y. Epub 2021 May 26. |
| 24916642 | Result | Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas C, Cailley D, Rooryck C, Arveiler B, Cavaille J, Salles JP, Tauber M. Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. Eur J Hum Genet. 2015 Feb;23(2):252-5. doi: 10.1038/ejhg.2014.103. Epub 2014 Jun 11. |
| 38561465 | Derived | Salles J, Eddiry S, Amri S, Galindo M, Lacassagne E, George S, Mialhe X, Lhuillier E, Franchitto N, Jeanneteau F, Gennero I, Salles JP, Tauber M. Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome. Mol Psychiatry. 2024 Sep;29(9):2742-2752. doi: 10.1038/s41380-024-02542-4. Epub 2024 Apr 2. |
| ID | Term |
|---|---|
| D011218 | Prader-Willi Syndrome |
| D004393 | Dwarfism, Pituitary |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D001849 | Bone Diseases, Endocrine |
| D007018 | Hypopituitarism |
| D010900 | Pituitary Diseases |
| D007027 | Hypothalamic Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D004700 | Endocrine System Diseases |
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| ID | Term |
|---|---|
| D013006 | Growth Hormone |
| D019382 | Human Growth Hormone |
| D015502 | Absorptiometry, Photon |
| D006403 | Hematologic Tests |
| D001706 | Biopsy |
| ID | Term |
|---|---|
| D010908 | Pituitary Hormones, Anterior |
| D010907 | Pituitary Hormones |
| D036361 | Peptide Hormones |
| D006728 | Hormones |
| D006730 | Hormones, Hormone Substitutes, and Hormone Antagonists |
| D010455 | Peptides |
| D000602 | Amino Acids, Peptides, and Proteins |
| D011859 | Radiography |
| D003952 | Diagnostic Imaging |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D003720 | Densitometry |
| D010783 | Photometry |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
| D019411 | Clinical Laboratory Techniques |
| D003581 | Cytodiagnosis |
| D003584 | Cytological Techniques |
| D013048 | Specimen Handling |
| D003949 | Diagnostic Techniques, Surgical |
| D013514 | Surgical Procedures, Operative |
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