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GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus (GENIAL)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01992666
Recruitment Status : Completed
First Posted : November 25, 2013
Last Update Posted : July 26, 2018
Information provided by (Responsible Party):
Hospices Civils de Lyon

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.

Condition or disease Intervention/treatment Phase
Systemic Lupus Erythematosus (SLE) Genetic: Blood sampling Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 271 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Study Start Date : October 2013
Actual Primary Completion Date : October 2016
Actual Study Completion Date : October 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Lupus

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

Primary Outcome Measures :
  1. 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 :
  1. 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:
  1. Immunological component [ Time Frame: Once. At inclusion ]
    Identification of specific immunological factors of pediatric patients with SLE (or syndromic or family)

  2. 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 ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01992666

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Sponsors and Collaborators
Hospices Civils de Lyon
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Study Director: Alexandre Belot, Dr Hospices Civils de Lyon
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Hospices Civils de Lyon Identifier: NCT01992666    
Other Study ID Numbers: 2012.769
2012-A01449-34 ( Other Identifier: ID-RCB )
First Posted: November 25, 2013    Key Record Dates
Last Update Posted: July 26, 2018
Last Verified: July 2018
Keywords provided by Hospices Civils de Lyon:
Systemic lupus erythematosus
Additional relevant MeSH terms:
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Lupus Erythematosus, Systemic
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases