Ignite Creation Date:
2025-12-25 @ 5:00 AM
Ignite Modification Date:
2025-12-26 @ 4:00 AM
Study NCT ID:
NCT06544018
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-06-25
First Post:
2024-05-07
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Circadian Rhythm Deregulation in Patients With CAPS
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D056587', 'term': 'Cryopyrin-Associated Periodic Syndromes'}], 'ancestors': [{'id': 'D056660', 'term': 'Hereditary Autoinflammatory Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D000094482', 'term': 'Chronic Inducible Urticaria'}, {'id': 'D000080223', 'term': 'Chronic Urticaria'}, {'id': 'D014581', 'term': 'Urticaria'}, {'id': 'D017445', 'term': 'Skin Diseases, Vascular'}, {'id': 'D000096703', 'term': 'Cold Urticaria'}, {'id': 'D006969', 'term': 'Hypersensitivity, Immediate'}, {'id': 'D006967', 'term': 'Hypersensitivity'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D011795', 'term': 'Surveys and Questionnaires'}, {'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}, {'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'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'OTHER', 'interventionModel': 'PARALLEL', 'interventionModelDescription': 'Multicenter, prospective, interventional, comparative, open-label, controlled study with 2 parallel arms.'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 30}}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-09-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2028-11-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-06-19', 'studyFirstSubmitDate': '2024-05-07', 'studyFirstSubmitQcDate': '2024-08-06', 'lastUpdatePostDateStruct': {'date': '2025-06-25', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-09-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Description of circadian rhythm deregulation in patients with cryopyrinopathy (CAPS) whose diagnosis was confirmed by genetic analysis of NLRP3,', 'timeFrame': '6 months after inclusion', 'description': 'Concentration of the peak secretion of melatonin in both arms'}, {'measure': 'Description of circadian rhythm deregulation in patients with cryopyrinopathy (CAPS) whose diagnosis was confirmed by genetic analysis of NLRP3,', 'timeFrame': '12 months after inclusion', 'description': 'Concentration of the peak secretion of melatonin in both arms'}, {'measure': 'Description of circadian rhythm deregulation in patients with cryopyrinopathy (CAPS) whose diagnosis was confirmed by genetic analysis of NLRP3,', 'timeFrame': '6 months after inclusion', 'description': 'time of the peak secretion of melatonin in both arms'}, {'measure': 'Description of circadian rhythm deregulation in patients with cryopyrinopathy (CAPS) whose diagnosis was confirmed by genetic analysis of NLRP3,', 'timeFrame': '12 months after inclusion', 'description': 'time of the peak secretion of melatonin in both arms'}], 'secondaryOutcomes': [{'measure': 'Difference in circadian clock biomarkers between patients and control participants for Circadian Rhythm Characteristics.', 'timeFrame': '6 th month', 'description': 'Determination of circadian rhythms : amplitude in both arms'}, {'measure': 'Difference in circadian clock biomarkers between patients and control participants for Circadian Rhythm Characteristics.', 'timeFrame': '6 th month', 'description': 'Determination of circadian rhythms : period in both arms'}, {'measure': 'Difference in circadian clock biomarkers between patients and control participants for Circadian Rhythm Characteristics.', 'timeFrame': '6 th month', 'description': 'Determination of circadian rhythms : phase in both arms'}, {'measure': 'Chronotype determination', 'timeFrame': '6 th month', 'description': 'Number of patients in each chronotype for the 2 arms based on the specific questionnaire in both arm'}, {'measure': 'sleep duration', 'timeFrame': '6 th month', 'description': 'sleep duration in both arms'}, {'measure': 'number of steps', 'timeFrame': '6 th month', 'description': 'Daily activity in both arms'}, {'measure': 'Comparison of inflammatory state', 'timeFrame': '6 months after inclusion', 'description': 'basal levels of IL1β in patient monocytes in both arms'}, {'measure': 'Comparison of inflammatory state', 'timeFrame': '12 months after inclusion', 'description': 'basal levels of IL1β in patient monocytes in both arms'}, {'measure': 'Comparison of inflammatory state', 'timeFrame': '6 months after inclusion', 'description': 'basal levels of IL18 in patient monocytes in both arms'}, {'measure': 'Comparison of inflammatory state', 'timeFrame': '12 months after inclusion', 'description': 'basal levels of IL18 in patient monocytes in both arms'}, {'measure': 'Disease activity measurement', 'timeFrame': '6 months after inclusion', 'description': 'Number of patient with active disease ie AIDAI (AUTO-INFLAMMATORY DISEASE ACTIVITY INDEX) score \\>9 in CAPS patient arm'}, {'measure': 'Disease activity measurement', 'timeFrame': '12 months after inclusion', 'description': 'Number of patient with active disease ie AIDAI (AUTO-INFLAMMATORY DISEASE ACTIVITY INDEX) score \\>9 in CAPS patient arm'}, {'measure': 'presence or absence of an abnormality in the NLRP3 signalling pathway in CAPS arm compared control arm', 'timeFrame': '6 months after inclusion', 'description': 'Biochemical characterization of the NLRP3 inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of an abnormality in the NLRP3 signalling pathway in CAPS arm compared to control arm', 'timeFrame': '12 months after inclusion', 'description': 'Biochemical characterization of the NLRP3 inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of ASC inflammasome protein regulatory pathway in CAPs arm compared to control arm', 'timeFrame': '6 months after inclusion', 'description': 'Biochemical characterization of the ASC inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of ASC inflammasome protein regulatory pathway in CAPS arm compared to control arm', 'timeFrame': '12 months after inclusion', 'description': 'Biochemical characterization of the ASC inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of the CASPASE-1 inflammasome protein regulatory pathway in CAPS arm compared to control arm', 'timeFrame': '6 months after inclusion', 'description': 'Biochemical characterization of the CASPASE-1 inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of the CASPASE-1 inflammasome protein regulatory pathway in CAPS arm compared to control arm', 'timeFrame': '12 months after inclusion', 'description': 'Biochemical characterization of the CASPASE-1 inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of REV-ERBα inflammasome protein regulatory pathway in CAPS arm compared to control arm', 'timeFrame': '6 months after inclusion', 'description': 'Biochemical characterization of the REV-ERBα inflammasome protein regulatory pathway in both arms'}, {'measure': 'presence or absence of REV-ERBα inflammasome protein regulatory pathway in CAPS arm compared to control arm', 'timeFrame': '12 months after inclusion', 'description': 'Biochemical characterization of the REV-ERBα inflammasome protein regulatory pathway in both arms'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Circadian clock', 'cryopyrin-associated periodic syndrome', 'familial cold urticaria', 'muckle-wells syndrome', 'melatonin'], 'conditions': ['Cryopyrin Associated Periodic Syndrome', 'Familial Cold Urticaria', 'Muckle-Wells Syndrome', 'CINCA Syndrome']}, 'descriptionModule': {'briefSummary': "Circadian rhythms are characterized by the physiology's adaptation to the alternation of day and night, enabling to adapt to the environment. These rhythms are generated by a molecular clock within each cell. At the molecular level, the circadian clock is based on a complex system of cell-autonomous transcription loops. These exert positive and negative feedback on themselves, generating cyclic transcriptional activity.\n\n* In the main loop, the BMAL1 transcription factor links with CLOCK or NPAS2 ( (Neuronal PAS Domain Protein 2) to activate transcription of per1,2 and 3 and cryptochrome (cry1 and cry2), which in turn repress BMAL1/CLOCK1 transcriptional activity.. The BMAL1/CLOCK complex also activates transcription of numerous target genes (per and cry, Rev-erb, etc.)..\n* other secondary loops refine the function of the first.\n\nRecent studies suggest that many aspects of innate immunity are controlled by circadian rhythm through inhibition of NLRP3 inflammasome activation. Nevertheless, the regulation of the NLRP3 inflammasome by the circadian clock has yet to be elucidated. Inflammasomes are molecular platforms that control caspase-1 activation and consequently the maturation of precursors of (interleukine) IL-1β, pro-IL-18, a pro-inflammatory cytokine. Since its discovery, its functions have been widely characterized as part of the innate immune response as a sensor of pathogens and danger signals (extracellular ATP (Adenosine triphosphate), atmospheric pollutants). NLRP3 (nucleotide-binding domain LRR (leucin-rich repeat ) and pyrin-containing receptor 3) has been described for its genetic association with dominant monogenic hereditary syndromes characterized by recurrent systemic inflammatory episodes in the absence of any infection or autoimmune disease, known as CAPS (cryopyrin-associated periodic syndrome) or cryopyrinopathies which is a continuum of diseases ranging from a moderate to the most severe form of the syndrome: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and CINCA/NOMID syndrome.\n\nInterestingly, patients with Muckle-Wells syndrome show a circadian pattern of symptoms, with a recurrent, predominantly vesperal fever peak lasting a few hours, and extreme fatigue on a daily basis. However, a molecular link between the circadian clock and CAPS pathology remains to be determined.\n\nThe aim of this protocol is to identify circadian rhythm dysregulation in patients with CAPS confirmed by genetic analysis of NLRP3, to demonstrate a link between circadian clock and CAPS syndrome, and to identify circadian clock regulatory pathways."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '6 Years', 'healthyVolunteers': True, 'eligibilityCriteria': '---Inclusion Criteria:\n\nPatient with CAPS group :\n\n* Patients aged 6 and over\n* Participant with CAPS confirmed by NLRP3 genetic analysis\n* Weight greater than or equal to 25 Kg\n* Parents/guardians who have been informed of the study and have signed a consent form.\n* Patient affiliated to a social security scheme\n\nControl group (healthy participant):\n\n* Participant aged 6 and over\n* Weight greater than or equal to 25 Kg\n* Participant living in the same household as a subject with CAPS genetically confirmed by NLRP3 analysis and included in the protocol\n* Participant with no CAPS (a priori) who consents to NLRP3 genetic analysis\n* Parents/guardians who have been informed of the study and have signed a consent form.\n* Participant who has been informed of the study and has agreed to take part\n* Participant affiliated to a social security scheme\n\n * Exclusion Criteria :\n\nPatient with CAPS group :\n\n* Patients with chronic sleep disorders (narcolepsy, hypersomnia) requiring medication (sleeping pills, melatonin).\n* Patients with sleep apnea syndrome\n* Patients working regular night shifts or alternating day and night shifts\n* Pregnant or breast-feeding women\n* Parents with an infant under 6 months of age\n* Patient participating in another interventional drug study\n* Deprivation of civil rights (curators, guardianship, safeguard of justice)\n\nControl group (healthy participant):\n\n* Participants with a chronic illness (ALD beneficiaries)\n* Participants with chronic sleep disorders (narcolepsy, hypersomnia) requiring medication (sleeping pills, melatonin)\n* Participants working regular night shifts or alternating day and night shifts\n* Pregnant or breast-feeding women\n* Parents with an infant under 6 months of age\n* Participant participating in another interventional drug study\n* Deprivation of civil rights (curators, guardianship, safeguard of justice)'}, 'identificationModule': {'nctId': 'NCT06544018', 'acronym': 'ICARUS', 'briefTitle': 'Circadian Rhythm Deregulation in Patients With CAPS', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'Identification of Circadian Rhythm Deregulation in Patients With Cryopyrin-associated Periodic Syndrome (CAPS)', 'orgStudyIdInfo': {'id': '69HCL23_0417'}, 'secondaryIdInfos': [{'id': '2023-A01088-37', 'type': 'OTHER', 'domain': 'ID-RCB'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'ACTIVE_COMPARATOR', 'label': 'Patients with cryopyrin-associated periodic syndrome (CAPS)', 'description': 'Confirmed by genetic analysis of NLRP3', 'interventionNames': ['Genetic: Genetic analysis of NLRP3', 'Device: Circadian rhythm measurement', 'Biological: Saliva sampling', 'Other: Questionnaire', 'Other: AIDAI score', 'Biological: Blood sampling']}, {'type': 'PLACEBO_COMPARATOR', 'label': 'Control group', 'description': 'Healthy participant (absence of CAPS, verified by NLRP3 gene analysis) living in the same household as a CAPS participant included in the protocol', 'interventionNames': ['Genetic: Genetic analysis of NLRP3', 'Device: Circadian rhythm measurement', 'Biological: Saliva sampling', 'Other: Questionnaire', 'Biological: Blood sampling']}], 'interventions': [{'name': 'Genetic analysis of NLRP3', 'type': 'GENETIC', 'description': 'Blood test for genetic analysis of NLRP3', 'armGroupLabels': ['Control group', 'Patients with cryopyrin-associated periodic syndrome (CAPS)']}, {'name': 'Circadian rhythm measurement', 'type': 'DEVICE', 'description': 'Wear a Withings Pulse HR (heart rate) actigraphic watch 24 hours a day for 1 month to define circadian rhythm', 'armGroupLabels': ['Control group', 'Patients with cryopyrin-associated periodic syndrome (CAPS)']}, {'name': 'Saliva sampling', 'type': 'BIOLOGICAL', 'description': 'Saliva sampling for salivary melatonin determination', 'armGroupLabels': ['Control group', 'Patients with cryopyrin-associated periodic syndrome (CAPS)']}, {'name': 'Questionnaire', 'type': 'OTHER', 'description': 'Questionnaire to determine chronotype', 'armGroupLabels': ['Control group', 'Patients with cryopyrin-associated periodic syndrome (CAPS)']}, {'name': 'AIDAI score', 'type': 'OTHER', 'description': 'Disease activity score using AIDAI score (only for patients in the CAPS group) AIDAI : AUTO-INFLAMMATORY DISEASE ACTIVITY INDEX', 'armGroupLabels': ['Patients with cryopyrin-associated periodic syndrome (CAPS)']}, {'name': 'Blood sampling', 'type': 'BIOLOGICAL', 'description': '1. Inflammatory cytokines measurement : IL1-beta (Interleukin-1) and IL-18.\n2. Molecular characterization of circadian clock signaling pathways', 'armGroupLabels': ['Control group', 'Patients with cryopyrin-associated periodic syndrome (CAPS)']}]}, 'contactsLocationsModule': {'locations': [{'zip': '69677', 'city': 'Bron', 'country': 'France', 'contacts': [{'name': 'Alexandre Belot, MD;PhD', 'role': 'CONTACT', 'email': 'Alexandre.belot@chu-lyon.fr', 'phone': '04 27 85 61 26', 'phoneExt': '33'}, {'name': 'Alexandre Belot, MD;PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Femme-Mère-Enfant (HCL)', 'geoPoint': {'lat': 45.73865, 'lon': 4.91303}}, {'zip': '59037', 'city': 'Lille', 'country': 'France', 'contacts': [{'name': 'Éric HACHULLA, MD;PhD', 'role': 'CONTACT', 'email': 'eric.hachulla@chru-lille.fr'}, {'name': 'Éric HACHULLA, MD;PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Claude Huriez (CHU de Lille)', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'zip': '69004', 'city': 'Lyon', 'country': 'France', 'contacts': [{'name': 'Yvan Jamilloux, MD;PhD', 'role': 'CONTACT', 'email': 'yvan.jamilloux@chu-lyon.fr'}, {'name': 'Yvan Jamilloux, MD;PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital de la Croix-Rousse (HCL)', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '69437', 'city': 'Lyon', 'country': 'France', 'contacts': [{'name': 'Thomas Barba, MD', 'role': 'CONTACT', 'email': 'thomas.barba@chu-lyon.fr'}, {'name': 'Thomas Barba, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Edouard Herriot (HCL)', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '75020', 'city': 'Paris', 'country': 'France', 'contacts': [{'name': 'Sophie Georgin-Lavialle, MD;PhD', 'role': 'CONTACT', 'email': 'sophie.georgin-lavialle@aphp.fr', 'phone': '01 56 01 60 77', 'phoneExt': '33'}, {'name': 'Sophie Georgin-Lavialle, MD;PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Tenon (AP-HP)', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '94270', 'city': 'Paris', 'country': 'France', 'contacts': [{'name': 'Isabelle Koné-Paut, MD;PhD', 'role': 'CONTACT', 'email': 'isabelle.kone-paut@aphp.fr', 'phone': '01 45 21 32 46'}, {'name': 'Isabelle Koné-Paut, MD;PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Kremlin-Bicêtre (AP-HP)', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Alexandre Alexandre, PR', 'role': 'CONTACT', 'email': 'Alexandre.belot@chu-lyon.fr', 'phone': '04 27 85 61 26', 'phoneExt': '33'}, {'name': 'Samira Plassart', 'role': 'CONTACT', 'email': 'Samira.plassart@chu-lyon.fr', 'phone': '04 27 85 54 42', 'phoneExt': '33'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hospices Civils de Lyon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}