GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus (GENIAL)

December 13, 2025 updated by: Hospices Civils de Lyon

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

271

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France
        • Service d'hématologie / oncologie pédiatrique - CHU
      • Besançon, France
        • Néphrologie Pédiatrique - CHU Besançon
      • Bron, France
        • Hôpital Femme Mère Enfant
      • Clermont-Ferrand, France
        • Service de Néphrologie Pédiatrique
      • Fort de France, France
        • Service de pédiatrie - CHU Fort de France
      • Grenoble, France
        • Service de Néphrologie et Rhumatologie Pédiatrique
      • Le Kremlin-Bicêtre, France
        • Service de Rhumatologie Pédiatrique - Hôpital de Bicêtre
      • Lille, 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
      • Lyon, France
        • Service de Néphrologie - Hôpital Edouard Herriot
      • Marseille, France
        • Centre de néphrologie et de transplantation rénale - Hôpital de la conception
      • Marseille, France
        • Service de médecine infantile- Hôpital Nord
      • Metz, France
        • Service de médecine interne - Hôpitaux privés de Metz
      • Montpellier, France
        • ervice d'urgence et post-urgences pédiatriques - CHU Arnaud de Villeneuve
      • Nancy, France
        • Service médecine infantile 2
      • Nantes, France
        • Service de néphrologie pédiatrique - CHU de Nantes
      • Paris, 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
      • Pierre-Bénite, France, 69495
        • Médecine Interne Adulte - Centre Hospitalier Lyon Sud
      • Pierre-Bénite, France
        • Service de Rhumatologie - Centre Hospitalier Lyon Sud
      • Rennes, France
        • Service pédiatrie grands enfants-adolescents - CHU Hôpital Sud
      • Saint-Etienne, France
        • Hopital Nord
      • Saint-Pierre, France
        • Service de Pédiatrie Générale - CHU Réunion
      • Toulouse, France
        • Service de néphrologie - médecine interne - Hypertension pédiatrique - Hôpital des enfants

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Blood sampling
Genetic: Blood sampling
Immunologic and genetic analysis from a single blood sample.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Once. At inclusion.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Immunological genotype and clinical abnormalities correlation
Time Frame: Once. At inclusion
Correlate genotype to immunological (interferon alpha, …) and clinical abnormalities (microcrania, growth retardation, …)
Once. At inclusion

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Immunological component
Time Frame: Once. At inclusion
Identification of specific immunological factors of pediatric patients with SLE (or syndromic or family)
Once. At inclusion
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
Once. At inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Investigators

  • Study Director: Alexandre Belot, Dr, Hospices Civils de Lyon

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2013

Primary Completion (Actual)

October 1, 2016

Study Completion (Actual)

October 1, 2016

Study Registration Dates

First Submitted

November 8, 2013

First Submitted That Met QC Criteria

November 18, 2013

First Posted (Estimated)

November 25, 2013

Study Record Updates

Last Update Posted (Estimated)

December 19, 2025

Last Update Submitted That Met QC Criteria

December 13, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2012.769
  • 2012-A01449-34 (Other Identifier: ID-RCB)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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