Ignite Creation Date:
2025-12-24 @ 9:56 PM
Ignite Modification Date:
2026-02-24 @ 2:31 PM
Study NCT ID:
NCT05319132
Status:
RECRUITING
Last Update Posted:
2025-08-08
First Post:
2022-03-31
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': '4 blood samples of 7 ml for ex-vivo analysis'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 4}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-09-06', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-08', 'completionDateStruct': {'date': '2028-05-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-08-07', 'studyFirstSubmitDate': '2022-03-31', 'studyFirstSubmitQcDate': '2022-03-31', 'lastUpdatePostDateStruct': {'date': '2025-08-08', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-04-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-05-06', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Cytokine release assays', 'timeFrame': 'At day 0', 'description': 'The Cytokine release assays will analyzed by ELISA in cells supernatants the Interleukin 8 (IL-8), Tumor Necrosis Factor (TNF) concentrations in the presence/absence of DF-003 and control.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['ROSAH Syndrome.'], 'conditions': ['Unrecognized Condition']}, 'descriptionModule': {'briefSummary': 'Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome.\n\nGenetic variants including T237M have been found in ROSAH Syndrome patients. Our in-house study has found that T237M mutation leads to hyperactivity of ALPK1, which may be the cause of the inflammatory syndromes found in ROSAH Syndrome patients. We hypothesize that T237M mutation ALPK1 cause ROSAH Syndrome and an ALPK1 inhibitor can be a potential therapy for treating this disease. To test our hypothesis, we designed an experiment in which ex vivo peripheral blood mononuclear cells (PBMCs) from ROSAH Syndrome patients will be exposed to a potent ALPK1 inhibitor (DF-003) or placebo. We expect to see downregulation of activated inflammatory genes, chemokine/cytokines and acute phase proteins in the ROSAH Syndrome patient samples that are exposed DF-003.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'This study concerns adult subjects with ROSAH syndrome', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Male or female aged over 18\n* Patient with ROSAH syndrome with the confirm T237M mutation\n\nExclusion Criteria:\n\n* person under legal protection or under protectives measures\n* person unable to express consent\n* person in emergency situation (vital or not)\n* person infected by Human Immunodeficiency Virus and/or Hepatitis B Virus and/or Hepatitis C Virus'}, 'identificationModule': {'nctId': 'NCT05319132', 'acronym': 'ROSAH', 'briefTitle': 'Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'A Phase 0 Study to Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cells (PBMC) From Subjects With Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and Headache (ROSAH) Syndrome.', 'orgStudyIdInfo': {'id': '69HCL22_0299'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Adult subjects with ROSAH syndrome', 'type': 'OTHER', 'description': 'The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '69004', 'city': 'Lyon', 'state': 'Auvergne-Rhône-Alpes', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Yvan Jamilloux, MD', 'role': 'CONTACT', 'email': 'yvan.jamilloux@chu-lyon.fr', 'phone': '0426732636', 'phoneExt': '+33'}, {'name': 'Nora +33 Martel, PM', 'role': 'CONTACT', 'email': 'nora.martel@chu-lyon.fr', 'phone': '0428732862', 'phoneExt': '+33'}], 'facility': 'Hôpital Nord Croix Rousse', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '49000', 'city': 'Angers', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Dominique BONNEAU, MD', 'role': 'CONTACT', 'email': 'DoBonneau@chu-angers.fr', 'phone': '0241353883', 'phoneExt': '+33'}], 'facility': 'service de Genetique - Institut de Biologie Santé PBH-IBS', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'zip': '75013', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'David SAADOUN, MD', 'role': 'CONTACT', 'email': 'david.saadoun@aphp.fr', 'phone': '0142178042', 'phoneExt': '+33'}], 'facility': 'Hôpital de la Pitié Salpétrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '51000', 'city': 'Reims', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Léo OLORY GARNOTEL, MD', 'role': 'CONTACT', 'email': 'lolory-garnotel@chu-reims.fr', 'phone': '03 26 78 78 78', 'phoneExt': '+33'}], 'facility': "Service D'ophtalmologie", 'geoPoint': {'lat': 49.26526, 'lon': 4.02853}}, {'zip': '35000', 'city': 'Rennes', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Samuel ARDOIS, MD', 'role': 'CONTACT', 'email': 'samuel.ardois@chu-rennes.fr', 'phone': '02 99 28 93 96', 'phoneExt': '+33'}], 'facility': 'Service de médecine interne et immunologie clinique', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}], 'centralContacts': [{'name': 'YVAN JAMILLOUX, MD', 'role': 'CONTACT', 'email': 'yvan.jamilloux@chu-lyon.fr', 'phone': '04 26 73 26 36', 'phoneExt': '+33'}, {'name': 'Nora MARTEL', 'role': 'CONTACT', 'email': 'nora.martel@chu-lyon.fr', 'phone': '04 26 73 28 62', 'phoneExt': '+33'}], 'overallOfficials': [{'name': 'YVAN JAMILLOUX', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Service de medecine interne - Hôpital de la Croix Rousse'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hospices Civils de Lyon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}