Ignite Creation Date:
2025-12-24 @ 5:56 PM
Ignite Modification Date:
2026-01-04 @ 9:37 AM
Study NCT ID:
NCT06435468
Status:
RECRUITING
Last Update Posted:
2025-12-22
First Post:
2024-05-07
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}], 'ancestors': [{'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}, {'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'OTHER', 'interventionModel': 'PARALLEL', 'interventionModelDescription': 'prospective, multicenter, national study'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 400}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-02-26', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2035-07-27', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-15', 'studyFirstSubmitDate': '2024-05-07', 'studyFirstSubmitQcDate': '2024-05-24', 'lastUpdatePostDateStruct': {'date': '2025-12-22', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2024-05-30', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2035-02-27', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood', 'timeFrame': 'Baseline', 'description': 'Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).'}], 'secondaryOutcomes': [{'measure': 'Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)', 'timeFrame': 'Baseline', 'description': 'score (Min value: 0 - Max value: 105), with higher values mean higher disease activity'}, {'measure': 'Levels of anti-double stranded DNA', 'timeFrame': 'Baseline', 'description': 'in patients sera'}, {'measure': 'Levels of complement components C3 and C4', 'timeFrame': 'Baseline', 'description': 'in patients sera'}, {'measure': 'Level of IFN Signature score', 'timeFrame': 'Baseline', 'description': 'Mesured by 6-gene Type 1 IFN Signature Score'}, {'measure': 'Concentration of circulating IFN-alpha', 'timeFrame': 'Baseline', 'description': 'In serum using single-molecule array digital ELISA technology (Simoa)'}, {'measure': 'Presence or absence of anti-type I interferons autoantibodies', 'timeFrame': 'Baseline', 'description': 'in patients sera'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Systemic Lupus', 'Genetic', 'rare autoimmune disease', 'rare autoinflammatory diseases', 'Pediatric-onset disease'], 'conditions': ['Systemic Lupus', 'Autoimmune Diseases', 'Autoinflammatory Disease', 'Genetic Disease']}, 'descriptionModule': {'briefSummary': 'Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.\n\nThis study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.', 'detailedDescription': 'A disease is said to be "rare" when it affects one person in 2,000, which represents three million people in France. Most rare diseases (80%) are genetic in origin ; the earlier they start in childhood, the more severe they can be. Rare pediatric diseases include autoimmune diseases (systemic lupus, juvenile dermatomyositis and juvenile idiopathic arthritis) and autoimmune diseases (interferonopathies, FMF, CAPS, TRAPS, and DADA2). Systemic autoimmune diseases are characterized by an inappropriate adaptive immune response (mediated by autoreactive T and/or B lymphocytes) with the production of autoantibodies directed against the constituents of the self (tolerance breakdown). Autoinflammatory diseases, unlike autoimmune diseases, correspond to an excess in the innate immune response (cytokines, macrophages, NK cells, granulocytes, etc.)..The precise pathophysiological mechanisms of these diseases have yet to be fully elucidated. Recent research has led to advances in the diagnosis and identification of monogenic forms of these diseases, particularly in early onset, familial, and syndromic forms. Nevertheless, the rarity of these diseases and limited availability of biological samples are major challenges that need to be overcome.\n\nThus, the aims of this study were as follows:\n\n\\- The creation of a biological collection: primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, which, through various research projects, will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '1 Year', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients\n* minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\<18 years), or syndromic or familial\n* relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\<18 years of age) or syndromic or familial,\n* weight greater than 5 kg\n* Patient/parents/guardians who were informed of the study and signed the consent form.\n* patient affiliated to a social security scheme\n\nHealthy volunteer participants\n\n* minor or adult participants with no age restrictions\n* weight over 5 kg\n* Subject /Parents/guardians who were informed of the study and signed a consent form.\n* Patient affiliated to a social security scheme\n\nExclusion Criteria:\n\nPatients\n\n\\- Subjects /Parents/guardians, refusing to participate in the study\n\nHealthy volunteer participants :\n\n* active infection (viral, bacterial, parasitic)\n* history of neoplasia (\\< 5 years) or current neoplasia\n* participants with a personal or family history of autoimmune disease\n* immunocompromised participant (immune deficiency or transplant recipient)\n* Subjects/parents/guardians refusing to participate in the study\n* Adults under legal protection (guardianship, curatorship)'}, 'identificationModule': {'nctId': 'NCT06435468', 'acronym': 'GENIALII', 'briefTitle': 'Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases', 'orgStudyIdInfo': {'id': '69HCL23_1252'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Patient with with a rare dysimmune disease', 'description': 'minors or adults of any age with a rare dysimmune disease characterized by autoimmunity, autoinflammation or early lymphoproliferation, with onset in childhood (\\<18 years), or syndromic or familial.', 'interventionNames': ['Genetic: Blood sample for genetic analysis', 'Other: Blood sample for immunological response assessments', 'Other: Blood sample to identify relevant biomarker of the disease']}, {'type': 'OTHER', 'label': 'Healthy volunteer participants', 'description': 'minor or adult participant without age restriction weighing more than 5 kg', 'interventionNames': ['Other: Blood sample for immunological response assessments', 'Other: Blood sample to identify relevant biomarker of the disease']}], 'interventions': [{'name': 'Blood sample for genetic analysis', 'type': 'GENETIC', 'description': 'genetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood', 'armGroupLabels': ['Patient with with a rare dysimmune disease']}, {'name': 'Blood sample for immunological response assessments', 'type': 'OTHER', 'description': 'Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases', 'armGroupLabels': ['Healthy volunteer participants', 'Patient with with a rare dysimmune disease']}, {'name': 'Blood sample to identify relevant biomarker of the disease', 'type': 'OTHER', 'description': 'Research biomarkers for diagnosis, prognosis and monitoring of disease activity', 'armGroupLabels': ['Healthy volunteer participants', 'Patient with with a rare dysimmune disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': '69500', 'city': 'Bron', 'state': 'Bron', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'BELOT Alexandre, Pr', 'role': 'CONTACT'}], 'facility': 'Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant', 'geoPoint': {'lat': 45.73865, 'lon': 4.91303}}, {'zip': '59000', 'city': 'Lille', 'state': 'Lille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'REUMAUX Héloïse, MD', 'role': 'CONTACT', 'email': 'Heloise.REUMAUX@chu-lille.fr'}], 'facility': 'Hôpital Jeanne de Flandre (CHU de Lille)', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'zip': '59037', 'city': 'Lille', 'state': 'Lille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'HACHULLA Éric, MD, PhD', 'role': 'CONTACT', 'email': 'eric.hachulla@chru-lille.fr'}], 'facility': 'Hôpital Claude Huriez (CHU de Lille)', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'zip': '06200', 'city': 'Nice', 'state': 'Nice', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'DE GUILLEBON DE RESNES Jean-Marie, MD', 'role': 'CONTACT', 'email': 'de-guillebon-de-resnes.jm@chu-nice.fr'}], 'facility': 'Hôpital Archet 2', 'geoPoint': {'lat': 43.70313, 'lon': 7.26608}}, {'zip': '75015', 'city': 'Paris', 'state': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Bader-Meunier Brigitte, MD', 'role': 'CONTACT', 'email': 'brigitte.bader-meunier@aphp.fr'}], 'facility': 'Hôpital Necker-Enfants Malades (AP-HP)', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '75935 Paris', 'city': 'Paris', 'state': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Meinzer Ulrich, MD, PhD', 'role': 'CONTACT', 'email': 'ulrich.meinzer@aphp.fr'}], 'facility': 'Hôpital Robert Debré (AP-HP)', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '94270', 'city': 'Paris', 'state': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Koné-Paut Isabelle, MD, PhD', 'role': 'CONTACT'}], 'facility': 'Hôpital Kremlin-Bicêtre (AP-HP)', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Saint-Etienne', 'state': 'Saint Etienne', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Franck Zekré, MD', 'role': 'CONTACT', 'email': 'Franck.ZEKRE@chu-st-etienne.fr'}], 'facility': 'Hôpital Nord (CHU ST-Etienne)', 'geoPoint': {'lat': 45.43389, 'lon': 4.39}}, {'zip': '38043', 'city': 'Grenoble', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'PAGNIER Anne, MD', 'role': 'CONTACT', 'email': 'apagnier@chu-grenoble.fr'}], 'facility': 'Hôpital Couple Enfant', 'geoPoint': {'lat': 45.17869, 'lon': 5.71479}}, {'zip': '75012', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'MELKI Isabelle', 'role': 'CONTACT', 'email': 'isabelle.melki@aphp.fr', 'phone': '00331 44 73 64 88'}], 'facility': 'Dr Isabelle MELKI', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '76038', 'city': 'Rouen', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'JARDIN Fabrice, MD, PhD', 'role': 'CONTACT', 'email': 'fabrice.jardin@chb.unicancer.fr'}], 'facility': 'CLCC Henri Becquerel', 'geoPoint': {'lat': 49.44313, 'lon': 1.09932}}, {'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'ZALOSZYC Ariane', 'role': 'CONTACT', 'email': 'ariane.zaloszyc@chru-strasbourg.fr'}], 'facility': 'Pr Ariane ZALOSZYC', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}, {'city': 'Villefranche-sur-Saône', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Remy-Piccolo Vanessa', 'role': 'CONTACT', 'email': 'vremypiccolo@hno.fr'}], 'facility': 'Dr Vanessa Remy-Piccolo', 'geoPoint': {'lat': 45.98967, 'lon': 4.71961}}], 'centralContacts': [{'name': 'BELOT Alexandre, Pr', 'role': 'CONTACT', 'email': 'Alexandre.belot@chu-lyon.fr', 'phone': '+ 33 4 27 85 61 26'}, {'name': 'PLASSART Samira', 'role': 'CONTACT', 'email': 'Samira.plassart@chu-lyon.fr', 'phone': '+ 33 4 27 85 54 42'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hospices Civils de Lyon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}