Ignite Creation Date:
2025-12-25 @ 4:42 AM
Ignite Modification Date:
2025-12-26 @ 3:43 AM
Study NCT ID:
NCT06412718
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-05-14
First Post:
2024-04-30
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D015783', 'term': 'Aniridia'}, {'id': 'D000092423', 'term': 'Limbal Stem Cell Deficiency'}, {'id': 'D010390', 'term': 'Pemphigoid, Benign Mucous Membrane'}, {'id': 'C536189', 'term': 'Ectrodactyly-cleft lip-palate syndrome'}, {'id': 'D016510', 'term': 'Corneal Neovascularization'}, {'id': 'D022125', 'term': 'Lacerations'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D005124', 'term': 'Eye Abnormalities'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D007499', 'term': 'Iris Diseases'}, {'id': 'D014603', 'term': 'Uveal Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D003316', 'term': 'Corneal Diseases'}, {'id': 'D003229', 'term': 'Conjunctival Diseases'}, {'id': 'D012872', 'term': 'Skin Diseases, Vesiculobullous'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D009389', 'term': 'Neovascularization, Pathologic'}, {'id': 'D008679', 'term': 'Metaplasia'}, {'id': 'D014947', 'term': 'Wounds and Injuries'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 274}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2024-05', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-04', 'completionDateStruct': {'date': '2026-04', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-05-08', 'studyFirstSubmitDate': '2024-04-30', 'studyFirstSubmitQcDate': '2024-05-08', 'lastUpdatePostDateStruct': {'date': '2024-05-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-05-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.', 'timeFrame': 'Day 0 (enrollment day).', 'description': 'Evaluation of NK1R transcription levels in PBMC, substance P and VEGF protein levels in the tear fluid, pro-inflammatory cytokines transcription levels in conjunctival tissue.\n\nNK1R and pro-inflammatory cytokines are expressed as fold change compared to control group.\n\nSubstance P and VEGF are expressed as ng/ml.'}], 'secondaryOutcomes': [{'measure': 'To correlate the expression of molecular/cellular genomic targets with the clinical phenotype/quality of life/pain symptoms in patients with the 7 rare diseases and in the control group so as to detect possible risk factors.', 'timeFrame': 'Day 0 (enrollment day).', 'description': 'Levels of NK1R, substance P, VEGF, and pro-inflammatory cytokines correlated with pictures, questionnaires, uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures acquired during the ophthalmologic exam.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Rare Eye Diseases', 'Aniridia', 'Neurotrophic Keratopathy', 'Limbal Stem Cell Deficiency', 'Ocular Graft-versus-host Disease', 'Ocular Cicatricial Pemphigoid', 'Corneal Neovascularization', 'Molecular targets', 'Cellular targets', 'Genomic targets', 'NK1R', 'PBMC', 'Substance P', 'VEGF', 'Blood', 'Tear', 'Impression cytology', 'Cytokine'], 'conditions': ['Rare Diseases', 'Aniridia', 'Neurotrophic Keratopathy', 'Limbal Stem Cell Deficiency', 'Ocular Graft-versus-host Disease', 'Ocular Cicatricial Pemphigoid', 'EEC Syndrome', 'Corneal Neovascularization']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.ern-eye.eu/ern-eye-a-european-reference-network-dedicated-to-rare-eye-diseases/', 'label': 'European Commission, ERN-EYE: a European Reference Network dedicated to Rare Eye Diseases. Accessed 29 December 2021'}, {'url': 'https://www.euroblind.org/about-blindness-and-partial-sight/facts-and-figures', 'label': 'European Blind Union, About Blindness and Partial Sight: Facts and Figures. Accessed 26 August 2022'}, {'url': 'https://restorevision-project.eu/', 'label': 'Restore Vision site'}]}, 'descriptionModule': {'briefSummary': "The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with inflammation/pain. Moreover, the following alternative targets are: VEGF, PAX6 and pro-inflammatory cytokine.\n\nThe following procedures are performed specifically for the study: samples of blood, tear fluid and impression cytology.\n\nPrecisely during the ophthalmological exam performed according to normal clinical practice (uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures) investigator's team collect the samples of blood, tear fluid and impression cytology to evaluate the goal of the study."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '99 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study population consists of 137 patients, each of them will present with one of the 7 diseases under study (REDs).\n\nThe control group will consist of 137 patients not presenting the previous reported REDs.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\nInclusion Criteria for study group\n\n* Women and men with age equal or higher than 18 years (patients in reproductive age may be included in the study).\n* Willingness and ability to read and understand the informed consent.\n* Diagnosis (including genotype, if needed) of REDs.\n\nInclusion Criteria for control group\n\n* Women and men with age equal or higher than 18 years (patients in reproductive age may be included in the study).\n* Willingness and ability to read and understand the informed consent.\n* Non - diagnosis of REDs.\n\nExclusion Criteria:\n\nExclusion Criteria for study group\n\nPatients who meet these criteria will be excluded from participation in the study:\n\n* Pregnancy, breastfeeding.\n* Active ocular infection.\n* Descemetocele/impending corneal perforation.\n* Recent (less than 3 months) ocular surgery.\n* Recent (less than 1 month) change in topical medications type and frequency.\n\nExclusion Criteria for control group\n\nPatients who meet these criteria will be excluded from participation in the study:\n\n* Pregnancy, breastfeeding.\n* Active ocular infection.\n* Descemetocele/impending corneal perforation.\n* Recent (less than 3 months) ocular surgery.\n* Recent (less than 1 month) change in topical medications type and frequency.'}, 'identificationModule': {'nctId': 'NCT06412718', 'briefTitle': 'Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS Ospedale San Raffaele'}, 'officialTitle': 'Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies', 'orgStudyIdInfo': {'id': 'RV-WP2'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients'}, {'label': 'Control group'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS Ospedale San Raffaele', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor of Ophthalmology-San Raffaele Vita Salute University, Cornea and Ocular Surface Unit; Head-Eye Repair Lab San Raffaele Scientific Institute', 'investigatorFullName': 'Giulio Ferrari', 'investigatorAffiliation': 'IRCCS Ospedale San Raffaele'}}}}