GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
NCT ID: NCT01992666
Last Updated: 2025-12-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
NA
271 participants
INTERVENTIONAL
2013-10-31
2016-10-31
Brief Summary
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Recently, the group of Professor Yanick Crow in Manchester and other teams has identified new forms of lupus Mendelian genetics. The TREX1 and genes involved in the SAMHD1 frostbite lupus.
Nearly 2 % of all adult subjects with SLE have a heterozygous mutation in the TREX1 gene, which therefore represents the first genetic cause of SLE. The team of Professor Crow also identified the ACP5 gene that is responsible for SLE associated with Spondylo-epiphyseal enchondro-epiphyseal dysplasia (syndromic lupus). Other groups have identified mutations in two genes encoding a DNAse (DNAse1 and DNAse1L3) responsible for familial monogenic forms of SLE. These new genes SLE were identified through research of germ-line mutations in cases of lupus syndromic or family. In collaboration with Professor Crow, we are currently undergoing characterization of a novel gene of SLE in a family and we have identified a second locus identified in another family. The identification of these genes provides a better understanding of the mechanisms regulating immune tolerance in humans. The frequency of these genetic forms is not known. There is very little data on the immunological phenotype of these patients.
This is a clinical study to investigate the genetic and immunological abnormalities associated with pediatric SLE. The aim are to:
* study the genetics of pediatric SLE (or syndromic or family) and to search for mutations in the known genetic lupus or new genes in collaboration with Professor Yanick Crow.
* study the lymphocyte subpopulations and serum cytokines in pediatric patients with SLE (or syndromic or family) in the large Rhône- Alpes- Auvergne area.
Detailed Description
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Conditions
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Keywords
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Study Design
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NA
SINGLE_GROUP
OTHER
NONE
Study Groups
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Blood sampling
Blood sampling
Immunologic and genetic analysis from a single blood sample.
Interventions
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Blood sampling
Immunologic and genetic analysis from a single blood sample.
Eligibility Criteria
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Inclusion Criteria
* Onset pediatric (\<18 years) OR
* Syndromic Lupus (associated with growth retardation, neurological deficit not related to lupus, frostbite, lymphoproliferation, the kidney malformations, heart, lung, brain calcifications) OR
* Lupus in context with familial consanguinity OR
* Familial cases (2 cases of SLE related first degree relative) OR related topic of the first degree to a lupus patient participant (if family lupus or related parents) OR
* mother/father's lupus patient (in cas of simplex lupus)
2. A person or beneficiary entitled to a social security scheme or similar
3. Informed consent signed by the person (or parent / holding parental authority for minors)
Exclusion Criteria
ALL
Yes
Sponsors
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Hospices Civils de Lyon
OTHER
Responsible Party
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Principal Investigators
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Alexandre Belot, Dr
Role: STUDY_DIRECTOR
Hospices Civils de Lyon
Locations
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Service de médecine interne - Centre de référence des maladies rares
Lille, , France
Service de néphrologie, endocrinologie, maladie métabolique et hématologie bénigne pédiatriques - Hôpital Jeanne de Flandre
Lille, , France
édiatrie générale, urgences et maladies infectieuses, Hôpital Salengro
Lille, , France
Service de Néphrologie - Hôpital Edouard Herriot
Lyon, , France
Centre de néphrologie et de transplantation rénale - Hôpital de la conception
Marseille, , France
Service de médecine infantile- Hôpital Nord
Marseille, , France
Service de médecine interne - Hôpitaux privés de Metz
Metz, , France
ervice d'urgence et post-urgences pédiatriques - CHU Arnaud de Villeneuve
Montpellier, , France
Service médecine infantile 2
Nancy, , France
Service de néphrologie pédiatrique - CHU de Nantes
Nantes, , France
Service d'immunologie et rhumatologie pédiatrique - Centre de référence de maladies rhumatologiques et inflammatoires rares en pédiatrie-Hôpital Necker-Enfants malades
Paris, , France
Service de médecine interne - Hôpital Saint Antoine
Paris, , France
Service de pédiatrie générale - Hôpital Robert-Debré
Paris, , France
Médecine Interne Adulte - Centre Hospitalier Lyon Sud
Pierre-Bénite, , France
Service de Rhumatologie - Centre Hospitalier Lyon Sud
Pierre-Bénite, , France
Service pédiatrie grands enfants-adolescents - CHU Hôpital Sud
Rennes, , France
Hôpital Nord
Saint-Etienne, , France
Service de Pédiatrie Générale - CHU Réunion
Saint-Pierre, , France
Service de néphrologie - médecine interne - Hypertension pédiatrique - Hôpital des enfants
Toulouse, , France
Service d'hématologie / oncologie pédiatrique - CHU
Angers, , France
Néphrologie Pédiatrique - CHU Besançon
Besançon, , France
Hôpital Femme Mère Enfant
Bron, , France
Service de Néphrologie Pédiatrique
Clermont-Ferrand, , France
Service de pédiatrie - CHU Fort de France
Fort de France, , France
Service de Néphrologie et Rhumatologie Pédiatrique
Grenoble, , France
Service de Rhumatologie Pédiatrique - Hôpital de Bicêtre
Le Kremlin-Bicêtre, , France
Countries
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References
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Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Kone-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus. Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28.
Other Identifiers
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2012-A01449-34
Identifier Type: OTHER
Identifier Source: secondary_id
2012.769
Identifier Type: -
Identifier Source: org_study_id