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

GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus (GENIAL)

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2016 by Hospices Civils de Lyon
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon
ClinicalTrials.gov Identifier:
NCT01992666
First received: November 8, 2013
Last updated: March 24, 2016
Last verified: March 2016
  Purpose

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. ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    Correlate genotype to immunological (interferon alpha, …) and clinical abnormalities (microcrania, growth retardation, …)


Other Outcome Measures:
  • Immunological component [ Time Frame: Once. At inclusion ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]

Estimated Enrollment: 280
Study Start Date: October 2013
Estimated Study Completion Date: October 2016
Estimated 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.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01992666

Contacts
Contact: Alexandre Belot Belot, Dr +33(0)4 27 85 67 01 alexandre.belot@chu-lyon.fr
Contact: Tiphanie Ginhoux +33(0)4 72 35 75 51 tiphanie.ginhoux@chu-lyon.fr

Locations
France
Service d'hématologie / oncologie pédiatrique - CHU Recruiting
Angers, France
Contact: Isabelle Pellier, MD         
Principal Investigator: Isabelle Pellier, MD         
Néphrologie Pédiatrique - CHU Besançon Recruiting
Besançon, France
Contact: François Nobili, MD         
Principal Investigator: François Nobili, MD         
Hôpital Femme Mère Enfant Recruiting
Bron, France
Contact: Alexandre BELOT, MD         
Principal Investigator: Alexandre BELOT, MD         
Sub-Investigator: Pierre COCHAT, MD         
Service de Néphrologie Pédiatrique Active, not recruiting
Clermont Ferrand, France
Service de pédiatrie - CHU Fort de France Recruiting
Fort de France, France
Contact: Yves Hatchuel, MD         
Principal Investigator: Yves Hatchuel, MD         
Service de Néphrologie et Rhumatologie Pédiatrique Recruiting
Grenoble, France
Contact: Guylhène Bourdat-Michel, MD         
Principal Investigator: Guylhène Bourdat-Michel, MD         
Sub-Investigator: Anne Pagnier         
Service de Rhumatologie Pédiatrique - Hôpital de Bicêtre Recruiting
Le Kremlin Bicêtre, France
Contact: Isabelle Koné-Paut, MD         
Principal Investigator: Isabelle Koné-Paut, MD         
édiatrie générale, urgences et maladies infectieuses, Hôpital Salengro Recruiting
Lille, France
Contact: Héloïse Reumaux, MD         
Principal Investigator: Héloïse Reumaux, MD         
Service de néphrologie, endocrinologie, maladie métabolique et hématologie bénigne pédiatriques - Hôpital Jeanne de Flandre Active, not recruiting
Lille, France
Service de médecine interne - Centre de référence des maladies rares Recruiting
Lille, France
Contact: Eric Hachulla, MD         
Principal Investigator: Eric Hachulla, MD         
Service de Néphrologie - Hôpital Edouard Herriot Active, not recruiting
Lyon, France
Centre de néphrologie et de transplantation rénale - Hôpital de la conception Recruiting
Marseille, France
Contact: Stéphane Burtey, MD         
Principal Investigator: Stéphane Burtey, MD         
Service de médecine infantile- Hôpital Nord Active, not recruiting
Marseille, France
Service de médecine interne - Hôpitaux privés de Metz Recruiting
Metz, France
Contact: François Maurier, MD         
Principal Investigator: François Maurier, MD         
ervice d'urgence et post-urgences pédiatriques - CHU Arnaud de Villeneuve Recruiting
Montpellier, France
Contact: Aurélia Carbasse, MD         
Principal Investigator: Aurélia Carbasse, MD         
Service médecine infantile 2 Recruiting
Nancy, France
Contact: Irène Lemelle, MD         
Principal Investigator: Irène Lemelle, MD         
Service de néphrologie pédiatrique - CHU de Nantes Recruiting
Nantes, France
Contact: Emma Allain-Launay, MD         
Principal Investigator: Emma Allain-Launay, MD         
Service de pédiatrie générale - Hôpital Robert-Debré Recruiting
Paris, France
Contact: Ulrich MEINZER, MD         
Principal Investigator: Ulrich MEINZER, MD         
Service d'immunologie et rhumatologie pédiatrique - Centre de référence de maladies rhumatologiques et inflammatoires rares en pédiatrie-Hôpital Necker-Enfants malades Recruiting
Paris, France
Contact: Brigitte Bader Meunier, MD         
Principal Investigator: Brigitte Bader Meunier, MD         
Service de médecine interne - Hôpital Saint Antoine Recruiting
Paris, France
Contact: Olivier Fain, MD         
Principal Investigator: Olivier Fain, MD         
Médecine Interne Adulte - Centre Hospitalier Lyon Sud Recruiting
Pierre-Bénite, France, 69495
Contact: Isabelle Durieu, MD         
Principal Investigator: Isabelle Durieu, MD         
Service de Rhumatologie - Centre Hospitalier Lyon Sud Recruiting
Pierre-Bénite, France
Contact: Jacques Tebib, MD         
Principal Investigator: Jacques Tebib, MD         
Service pédiatrie grands enfants-adolescents - CHU Hôpital Sud Recruiting
Rennes, France
Contact: Véronique Despert, MD         
Principal Investigator: Véronique Despert, MD         
Hôpital Nord Active, not recruiting
Saint Etienne, France
Service de Pédiatrie Générale - CHU Réunion Recruiting
Saint Pierre, France
Contact: Hugues FLODROPS, MD         
Principal Investigator: Hugues FLODROPS, MD         
Service de néphrologie - médecine interne - Hypertension pédiatrique - Hôpital des enfants Recruiting
Toulouse, France
Contact: Stéphane Decramer, MD         
Principal Investigator: Stéphane Decramer, MD         
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
Study Director: Alexandre Belot, Dr Hospices Civils de Lyon
  More Information

Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT01992666     History of Changes
Other Study ID Numbers: 2012.769 
Study First Received: November 8, 2013
Last Updated: March 24, 2016
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

Keywords provided by Hospices Civils de Lyon:
Systemic lupus erythematosus
genetic
immunological
pediatric
mutation
lupus

Additional relevant MeSH terms:
Lupus Erythematosus, Systemic
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases

ClinicalTrials.gov processed this record on July 28, 2016