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Trial record 2 of 2 for:    Immune Development in Pediatric Transplantation (IMPACT)

GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus (GENIAL)

This study has been completed.
Information provided by (Responsible Party):
Hospices Civils de Lyon Identifier:
First received: November 8, 2013
Last updated: December 1, 2016
Last verified: December 2016

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.

Condition Intervention
Systemic Lupus Erythematosus (SLE) Genetic: Blood sampling

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Official Title: GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus

Resource links provided by NLM:

Further study details as provided by Hospices Civils de Lyon:

Primary Outcome Measures:
  • New genes identification [ Time Frame: Once. At inclusion. ]
    Description: Identification of genetic mutations in the following genes: TREX1, SAMHD1, ACP5, DNAse1, DNAse1L3, or in new lupus genes.

Secondary Outcome Measures:
  • Immunological genotype and clinical abnormalities correlation [ Time Frame: Once. At inclusion ]
    Correlate genotype to immunological (interferon alpha, …) and clinical abnormalities (microcrania, growth retardation, …)

Other Outcome Measures:
  • Immunological component [ Time Frame: Once. At inclusion ]
    Identification of specific immunological factors of pediatric patients with SLE (or syndromic or family)

  • Characterization of sub-groups: size, articular manifestations (SLEDAI), hematology (hemoglobin, platelets, G White, ANA, ds-DNA, C3, C4, CH50, creatinine, proteinuria. [ Time Frame: Once. At inclusion ]

Enrollment: 271
Study Start Date: October 2013
Study Completion Date: October 2016
Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Blood sampling Genetic: Blood sampling
Immunologic and genetic analysis from a single blood sample.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  1. 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)
  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:

- none

  Contacts and Locations
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Please refer to this study by its identifier: NCT01992666

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, France, 69495
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
Sponsors and Collaborators
Hospices Civils de Lyon
Study Director: Alexandre Belot, Dr Hospices Civils de Lyon
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Hospices Civils de Lyon Identifier: NCT01992666     History of Changes
Other Study ID Numbers: 2012.769
Study First Received: November 8, 2013
Last Updated: December 1, 2016

Keywords provided by Hospices Civils de Lyon:
Systemic lupus erythematosus

Additional relevant MeSH terms:
Lupus Erythematosus, Systemic
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases processed this record on June 23, 2017