GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
GENIAL
2 other identifiers
interventional
271
1 country
26
Brief Summary
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology includes genet-ic and environmental factors. It is rare in children as compared to adults. The severity may be related to greater involvement of genetic factors in children. The impact of genetics in the development of SLE is important, and the risk of recurrence in siblings evaluated by lambda S ratio is 30 in SLE, while it is 15 for type-1 diabetes and 8 rheumatoid arthritis, thereby indicating high impact of genetics in SLE. 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Oct 2013
Typical duration for not_applicable
26 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
October 1, 2013
CompletedFirst Submitted
Initial submission to the registry
November 8, 2013
CompletedFirst Posted
Study publicly available on registry
November 25, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2016
CompletedStudy Completion
Last participant's last visit for all outcomes
October 1, 2016
CompletedDecember 19, 2025
December 1, 2025
3 years
November 8, 2013
December 13, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
New genes identification
Description: Identification of genetic mutations in the following genes: TREX1, SAMHD1, ACP5, DNAse1, DNAse1L3, or in new lupus genes.
Once. At inclusion.
Secondary Outcomes (1)
Immunological genotype and clinical abnormalities correlation
Once. At inclusion
Other Outcomes (2)
Immunological component
Once. At inclusion
Characterization of sub-groups: size, articular manifestations (SLEDAI), hematology (hemoglobin, platelets, G White, ANA, ds-DNA, C3, C4, CH50, creatinine, proteinuria.
Once. At inclusion
Study Arms (1)
Blood sampling
EXPERIMENTALInterventions
Eligibility Criteria
You may qualify if:
- Male or female subject, major or minor of any age with SLE (defined according to the ACR 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)
- A person or beneficiary entitled to a social security scheme or similar
- Informed consent signed by the person (or parent / holding parental authority for minors)
You may not qualify if:
- \- none
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (26)
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
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, 69495, 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
Related Publications (1)
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.
PMID: 28039062RESULT
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Alexandre Belot, Dr
Hospices Civils de Lyon
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- OTHER
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 8, 2013
First Posted
November 25, 2013
Study Start
October 1, 2013
Primary Completion
October 1, 2016
Study Completion
October 1, 2016
Last Updated
December 19, 2025
Record last verified: 2025-12