Our group in Paris is structured into three closely collaborative entities to ensure clinical and molecular diagnosis, management, education, and translational research in the field of lipodystrophy and insulin resistance syndromes.
1. The PRISIS reference center (National Reference
Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity)
Coordination: Prof. Corinne Vigouroux
Endocrinology Department directed by Prof. Sophie Christin-Maitre, AP-HP, Saint-Antoine Hospital, 184, Rue du Faubourg Saint-Antoine, 75012 Paris, France
https://endocrino-sat.aphp.fr/prisis/
Contact: Dr. Sonja Janmaat, projectmanager
Medical team: Dr. Camille Vatier, Dr. Bruno Donadille, Dr. Helena Mosbah, Dr. Sophie Lamothe, Prof. Corinne Vigouroux
The PRISIS national reference center is dedicated to the diagnosis of lipodystrophy and severe insulin resistance syndromes and in the management of affected patients. In addition to its on-site activities, our center coordinates a network of 21 competence centers throughout the country to decrease diagnosis delay and ensure high quality clinical care in the field of rare forms of diabetes and/or insulin resistance syndromes, from childhood to adulthood. PRISIS provides access to advanced molecular investigations including whole genome sequencing through national high output platforms (Plan France Médecine Génomique 2025), and guides the indications of the orphan drug metreleptin. It promotes collaborative studies to improve patient care and support, and increase the understanding of pathophysiological mechanisms. Our center provides on-site patient training and support sessions, set up in collaboration with the French Lipodystrophy Patient Association AFLIP and the competence centers from Lille, Paris-Robert Debré and La Réunion (Educational Program “Lipodystrophy from childhood to adulthood” leaded by Dr. Camille Vatier). The PRISIS network acts to favor the dissemination of knowledge in the field, to students, generalist and specialist physicians, and patients. PRISIS is part of the French national Federation for Rare Endocrine diseases FIRENDO, and the Endo-ERN rare disease network.
2. The genetic unit for the
molecular diagnosis of lipodystrophy/insulin resistance
Geneticist in charge of the diagnosis: Dr. Isabelle Jéru
Medical Genetics Department, UF Métabogénétique et Neutrogénétique directed by Dr. Christine Bellanné-Chantelot, Bâtiment de la Pharmacie, AP-HP, La Pitié-Salpêtrière Hospital, 47-83 Bd de l’Hôpital, 75013 Paris, France
http://www.cgmc-psl.fr/spip.php?rubrique29
The laboratory has set up a dedicated gene panel for the diagnosis of lipodystrophy and insulin resistance syndrome. It also performs whole exome sequencing and provides interpretation of genome sequencing on the national platforms.
3. The research team
“Lipodystrophy, metabolic and hormonal adaptations, and ageing”
Head of the lab: Prof. Bruno Fève
Saint-Antoine Research Centre, Inserm UMR_S938, directed by, Sorbonne Université Médecine, Site Saint-Antoine, 27, rue Chaligny, 75012 Paris, France
https://www.crsa.fr/equipe-bruno-feve.html
Within our research lab, we develop cellular models
for pathophysiological research through a translational approach, in
conjunction with the study of patients’ collected samples.
Publications
1. Mosbah H, Vantyghem MC, Nobécourt E, Andreelli F, Archambeaud F, Bismuth E, Briet C, Cartigny M, Chevalier B, Donadille B, Daguenel A, Fichet M, Gautier JF, Janmaat S, Jéru I, Legagneur C, Leguier L, Maitre J, Mongeois E, Poitou C, Renard E, Reznik Y, Spiteri A, Travert F, Vergès B, Zammouri J, Vigouroux C, Vatier C. Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network. Diabetes Obes Metab. 2022 Apr 20. doi: 10.1111/dom.14726. Epub ahead of print. PMID: 35445532.
2. Mosbah H, Donadille B, Vatier C, Janmaat S, Atlan M, Badens C, Barat P, Béliard S, Beltrand J, Ben Yaou R, Bismuth E, Boccara F, Cariou B, Chaouat M, Charriot G, Christin-Maitre S, De Kerdanet M, Delemer B, Disse E, Dubois N, Eymard B, Fève B, Lascols O, Mathurin P, Nobécourt E, Poujol-Robert A, Prevost G, Richard P, Sellam J, Tauveron I, Treboz D, Vergès B, Vermot-Desroches V, Wahbi K, Jéru I, Vantyghem MC, Vigouroux C. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins). Orphanet J Rare Dis. 2022 Apr 19;17(Suppl 1):170. doi: 10.1186/s13023-022-02308-7. PMID: 35440056; PMCID: PMC9019936.
3. Gautheron J, Lima L, Akinci B, Zammouri J, Auclair M, Ucar SK, Ozen S, Altay C, Bax BE, Nemazanyy I, Lenoir V, Prip-Buus C, Acquaviva-Bourdain C, Lascols O, Fève B, Vigouroux C, Noel E, Jéru I. Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes. BMC Med. 2022 Mar 28;20(1):95. doi: 10.1186/s12916-022-02296-2. PMID: 35341481; PMCID: PMC8958798.
4. Zammouri J, Vatier C, Capel E, Auclair M, Storey-London C, Bismuth E, Mosbah H, Donadille B, Janmaat S, Fève B, Jéru I, Vigouroux C. Molecular and Cellular Bases of Lipodystrophy Syndromes. Front Endocrinol (Lausanne). 2022 Jan 3;12:803189. doi: 10.3389/fendo.2021.803189. PMID: 35046902; PMCID: PMC8763341.
5. Jéru I, Nabil A, El-Makkawy G, Lascols O, Vigouroux C, Abdalla E. Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics. Genes (Basel). 2021 Sep 26;12(10):1508. doi: 10.3390/genes12101508. PMID: 34680903; PMCID: PMC8535562.
6. Karhan AN, Zammouri J, Auclair M, Capel E, Apaydin FD, Ates F, Verpont MC, Magré J, Fève B, Lascols O, Usta Y, Jéru I, Vigouroux C. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia. Eur J Endocrinol. 2021 Nov 10;185(6):841-854. doi: 10.1530/EJE-21-0915. PMID: 34643546.
7. Gautheron J, Morisseau C, Chung WK, Zammouri J, Auclair M, Baujat G, Capel E, Moulin C, Wang Y, Yang J, Hammock BD, Cerame B, Phan F, Fève B, Vigouroux C, Andreelli F, Jeru I. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Elife. 2021 Aug 3;10:e68445. doi: 10.7554/eLife.68445. PMID: 34342583; PMCID: PMC8331186.
8. Sollier C, Capel E, Aguilhon C, Smirnov V, Auclair M, Douillard C, Ladsous M, Defoort-Dhellemmes S, Gorwood J, Braud L, Motterlini R, Vatier C, Lascols O, Renard E, Vigouroux C, Jéru I. LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells. Eur J Endocrinol. 2021 Jan;184(1):155-168. doi: 10.1530/EJE-20-1013. PMID: 33112291.
9. Mosbah H, Vatier C, Boccara F, Jéru I, Lascols O, Vantyghem MC, Fève B, Donadille B, Sarrazin E, Benabbou S, Inamo J, Ederhy S, Cohen A, Neraud B, Richard P, Picard F, Christin-Maitre S, Redheuil A, Wahbi K, Vigouroux C. Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice. Cells. 2020 Mar 20;9(3):765. doi: 10.3390/cells9030765. PMID: 32245113; PMCID: PMC7140635.
10. Sollier C, Vatier C, Capel E, Lascols O, Auclair M, Janmaat S, Fève B, Jéru I, Vigouroux C. Lipodystrophic syndromes: From diagnosis to treatment. Ann Endocrinol (Paris). 2020 Feb;81(1):51-60. doi: 10.1016/j.ando.2019.10.003. Epub 2019 Dec 16. PMID: 31982105.
11. Jéru I, Vantyghem MC, Bismuth E, Cervera P, Barraud S; PLIN1-Study Group, Auclair M, Vatier C, Lascols O, Savage DB, Vigouroux C. Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6025-6032. doi: 10.1210/jc.2019-00849. PMID: 31504636; PMCID: PMC6916795.
12. Vatier C, Kalbasi D, Vantyghem MC, Lascols O, Jéru I, Daguenel A, Gautier JF, Buyse M, Vigouroux C. Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes. Orphanet J Rare Dis. 2019 Jul 12;14(1):177. doi: 10.1186/s13023-019-1141-2. PMID: 31300002; PMCID: PMC6626409.
13. Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Züchner S, Bonnefond A, Froguel P, Christin-Maitre S, Delemer B, Fève B, Laville M, Robert J, Tenenbaum F, Lascols O, Vigouroux C, Jéru I. MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. J Clin Lipidol. 2018 Nov-Dec;12(6):1420-1435. doi: 10.1016/j.jacl.2018.07.009. Epub 2018 Jul 25. PMID: 30158064