Systemic Lupus Erythematosus (SLE)GENIALNCT01992666
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
A study testing Blood sampling in people with Systemic Lupus Erythematosus (SLE), run by Hospices Civils de Lyon at 26 sites in France.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Systemic Lupus Erythematosus (SLE)
- What is being tested?
- Blood sampling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 271 participants
- Where
- 26 sitesFrance
- Study dates
- Oct 2013to Oct 2016
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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)
- A person or beneficiary entitled to a social security scheme or similar
- Informed consent signed by the person (or parent / holding parental authority for minors)
Who cannot join
- none
Trial locations and contacts
26 sites in 1 country.
26 sites in 1 country
France26 sites
Service d'hématologie / oncologie pédiatrique - CHU
Angers
Néphrologie Pédiatrique - CHU Besançon
Besançon
Hôpital Femme Mère Enfant
Bron
Service de Néphrologie Pédiatrique
Clermont-Ferrand
Service de pédiatrie - CHU Fort de France
Fort de France
Service de Néphrologie et Rhumatologie Pédiatrique
Grenoble
Service de Rhumatologie Pédiatrique - Hôpital de Bicêtre
Le Kremlin-Bicêtre
Service de médecine interne - Centre de référence des maladies rares
Lille
Service de néphrologie, endocrinologie, maladie métabolique et hématologie bénigne pédiatriques - Hôpital Jeanne de Flandre
Lille
édiatrie générale, urgences et maladies infectieuses, Hôpital Salengro
Lille
Service de Néphrologie - Hôpital Edouard Herriot
Lyon
Centre de néphrologie et de transplantation rénale - Hôpital de la conception
Marseille
Service de médecine infantile- Hôpital Nord
Marseille
Service de médecine interne - Hôpitaux privés de Metz
Metz
ervice d'urgence et post-urgences pédiatriques - CHU Arnaud de Villeneuve
Montpellier
Service médecine infantile 2
Nancy
Service de néphrologie pédiatrique - CHU de Nantes
Nantes
Service d'immunologie et rhumatologie pédiatrique - Centre de référence de maladies rhumatologiques et inflammatoires rares en pédiatrie-Hôpital Necker-Enfants malades
Paris
Service de médecine interne - Hôpital Saint Antoine
Paris
Service de pédiatrie générale - Hôpital Robert-Debré
Paris
Médecine Interne Adulte - Centre Hospitalier Lyon Sud
Pierre-Bénite, 69495
Service de Rhumatologie - Centre Hospitalier Lyon Sud
Pierre-Bénite
Service pédiatrie grands enfants-adolescents - CHU Hôpital Sud
Rennes
Hôpital Nord
Saint-Etienne
Service de Pédiatrie Générale - CHU Réunion
Saint-Pierre
Service de néphrologie - médecine interne - Hypertension pédiatrique - Hôpital des enfants
Toulouse
About this study
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.
Read more
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.
- Conditions
- Systemic Lupus Erythematosus (SLE)
- Being tested
- Blood sampling
- Keywords
- Systemic lupus erythematosus, genetic, immunological, pediatric, mutation, lupus
- Medical subject headings
- Lupus Erythematosus, Systemic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingGenetic
Immunologic and genetic analysis from a single blood sample.
| Study group | Role | What they receive |
|---|---|---|
| Blood sampling | Experimental | Not described Receives: Genetic: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
New genes identification
Description: Identification of genetic mutations in the following genes: TREX1, SAMHD1, ACP5, DNAse1, DNAse1L3, or in new lupus genes.
Measured: Once. At inclusion.
Secondary outcomes (1)
Immunological genotype and clinical abnormalities correlation
Correlate genotype to immunological (interferon alpha, …) and clinical abnormalities (microcrania, growth retardation, …)
Measured: Once. At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Nov 2013 (estimated)
- Study startOct 2013
- Primary completionOct 2016
- Study completionOct 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Systemic Lupus Erythematosus (SLE)Studies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 271 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alexandre Belot, Dr, Study director, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01992666
- Sponsor's protocol ID
- 2012.769
- Other IDs
- 2012-A01449-34
- Acronym
- GENIAL
- Status last verified
- Dec 2025
- First submitted
- 8 Nov 2013
- Last updated
- 19 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Kone-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus. Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28.
PubMed 28039062
Study at a glance
From the registry record, last updated by the sponsor on 19 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
- ClinicalTrials.gov ID
- NCT01992666
- Acronym / sponsor ID
- GENIAL / 2012.769
- Conditions
- Systemic Lupus Erythematosus (SLE)
- Keywords
- Systemic lupus erythematosus, genetic, immunological, pediatric, mutation, lupus
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 271 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Oct 2013
- Primary completion
- Oct 2016 (actual)
- Study completion
- Oct 2016 (actual)
- First posted
- 25 Nov 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Blood sampling | Experimental | Genetic: Blood sampling |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- Male or female subject, major or minor of any age with SLE (defined according to the ACR criteria)
- A person or beneficiary entitled to a social security scheme or similar
- Informed consent signed by the person (or parent / holding parental authority for minors)
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood samplingImmunologic and genetic analysis from a single blood sample. | Genetic | Blood sampling |
Primary outcome
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.
1 secondary outcome
Immunological genotype and clinical abnormalities correlation
Time frame: Once. At inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Dec 2025.
- Results publication: PubMed 28039062Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Kone-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus. Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28.
Related trials for Systemic Lupus Erythematosus (SLE)
RecruitingObservational study
Deciphering the Genetic Architecture of Autoimmune Diseases
Autoimmune Diseases
RecruitingObservational study
Gonadotropin-releasing Hormone Agonist (GnRHa) in Ovarian Preservation in SLE Subjects Receiving Cyclophosphamide as Determined by Questionnaires
Systemic Lupus Erythematosus (Sle), Primary Ovarian Insufficiency (Poi)
Active, not recruiting
Fatigue in Lupus Intervention Programmes (FLIP)
Systemic Lupus Erythematosus
RecruitingPhase 1
A Study of CLN-978, a Subcutaneously Administered CD19-directed T Cell Engager, in Subjects With Systemic Lupus Erythematosus
SLE, SLE (Systemic Lupus)
Active, not recruiting
Lupus Education Alliance Program
Systemic Lupus Erythematosus, COVID-19
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alexandre Belot, Dr study director
Hospices Civils de Lyon
26 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sampling in people with Systemic Lupus Erythematosus (SLE), run by Hospices Civils de Lyon at 26 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 26 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
New genes identification (time frame: Once. At inclusion.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01992666, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Dec 2025.