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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01992666
Other study ID # 2012.769
Secondary ID 2012-A01449-34
Status Completed
Phase N/A
First received
Last updated
Start date October 2013
Est. completion date October 2016

Study information

Verified date July 2018
Source Hospices Civils de Lyon
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial 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.


Recruitment information / eligibility

Status Completed
Enrollment 271
Est. completion date October 2016
Est. primary completion date October 2016
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility 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 Design


Related Conditions & MeSH terms


Intervention

Genetic:
Blood sampling
Immunologic and genetic analysis from a single blood sample.

Locations

Country Name City State
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 édiatrie générale, urgences et maladies infectieuses, Hôpital Salengro 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 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

Sponsors (1)

Lead Sponsor Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Other Immunological component Identification of specific immunological factors of pediatric patients with SLE (or syndromic or family) Once. At inclusion
Other Characterization of sub-groups: size, articular manifestations (SLEDAI), hematology (hemoglobin, platelets, G White, ANA, ds-DNA, C3, C4, CH50, creatinine, proteinuria. Once. At inclusion
Primary 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 Immunological genotype and clinical abnormalities correlation Correlate genotype to immunological (interferon alpha, …) and clinical abnormalities (microcrania, growth retardation, …) Once. At inclusion
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