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Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| national registry | Other | The investigators will collect demographic, clinical, biological and imaging characteristics of patients with PROS. |
| Measure | Description | Time Frame |
|---|---|---|
| Description of patients with overgrowth syndromes | Clinical and molecular characterization of patients with overgrowth syndromes will be performed. | 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of overgrowth syndromes in France | An estimation of the prevalence of overgrowth syndromes in France will be done | 5 years |
| Biobanking of samples derived from patients with overgrowth syndromes |
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Inclusion Criteria:
Exclusion Criteria:
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All patients with overgrowth syndrome referred by their doctors or patients who have sent a consultation request to the Reference Center (https://hopital-necker.aphp.fr/contacts-cloves) will be enrolled.
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| Name | Affiliation | Role |
|---|---|---|
| Guillaume Canaud, MD,PHD | Institut National de la Santé Et de la Recherche Médicale, France | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 34238334 | Background | Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. | |
| 34530449 | Background | Morin G, Canaud G. Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway. Br Med Bull. 2021 Dec 16;140(1):36-49. doi: 10.1093/bmb/ldab023. |
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Biopsies and tissues removed during surgical procedures will be stored in the Department of Pathology of Hôpital Necker-Enfants Malades (authorization CODECOH n° DC-2020-3940 de la Plateforme de Resource Biologique de l'Hôpital Necker-Enfants Malades).
DNA, PBMC and plasma from patients will be stored for further studies. Samples will be stored at the au Centre de Ressources Biologiques de la Structure Fédérative de Recherche Necker (autorisation CODECOH n° DC-2020-3940 du CRB Necker, supervised by Dr. Marie-Alexandra ALYANAKIAN).
A biobank will be created with biological samples (plasma) collected for research and residual biological samples from patient cares (treatment/diagnosis)
| 5 years |
| Description of patient cares: mumber of consultations and hospitalizations, number of treatment lines, grouping of patients by type of course (clusters) | An analysis of care trajectories will be performed. These data will be collected from health insurance databases for patients with overgrowth syndromes. | 5 years |
| Economic evaluation of cares for patients with overgrowth syndromes: cost of care, per period and cumulative. | SDNS data will be used to estimate care costs per year for patients with overgrowth syndrome. | 5 years |
| 34613809 | Background | Delestre F, Venot Q, Bayard C, Fraissenon A, Ladraa S, Hoguin C, Chapelle C, Yamaguchi J, Cassaca R, Zerbib L, Magassa S, Morin G, Asnafi V, Villarese P, Kaltenbach S, Fraitag S, Duong JP, Broissand C, Boccara O, Soupre V, Bonnotte B, Chopinet C, Mirault T, Legendre C, Guibaud L, Canaud G. Alpelisib administration reduced lymphatic malformations in a mouse model and in patients. Sci Transl Med. 2021 Oct 6;13(614):eabg0809. doi: 10.1126/scitranslmed.abg0809. Epub 2021 Oct 6. |
| 35080595 | Background | Morin G, Degrugillier-Chopinet C, Vincent M, Fraissenon A, Aubert H, Chapelle C, Hoguin C, Dubos F, Catteau B, Petit F, Mezel A, Domanski O, Herbreteau G, Alesandrini M, Boddaert N, Boutry N, Broissand C, Han TK, Branle F, Sarnacki S, Blanc T, Guibaud L, Canaud G. Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. J Exp Med. 2022 Mar 7;219(3):e20212148. doi: 10.1084/jem.20212148. Epub 2022 Jan 26. |
| 29899452 | Result | Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G. Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. |
| 28431241 | Result | Manning BD, Toker A. AKT/PKB Signaling: Navigating the Network. Cell. 2017 Apr 20;169(3):381-405. doi: 10.1016/j.cell.2017.04.001. |
| ID | Term |
|---|---|
| C567863 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi |
| D007715 | Klippel-Trenaunay-Weber Syndrome |
| D058627 | Megalencephaly |
| C562546 | Megalodactyly |
| D054079 | Vascular Malformations |
| D044148 | Lymphatic Abnormalities |
| D009477 | Hereditary Sensory and Autonomic Neuropathies |
| ID | Term |
|---|---|
| D000798 | Angiomatosis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D018376 | Cardiovascular Abnormalities |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
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