Ignite Creation Date:
2026-03-26 @ 3:20 PM
Ignite Modification Date:
2026-04-06 @ 6:08 PM
Study NCT ID:
NCT07332702
Status:
RECRUITING
Last Update Posted:
2026-01-12
First Post:
2025-12-29
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009134', 'term': 'Muscular Atrophy, Spinal'}, {'id': 'C563948', 'term': 'Spinal Muscular Atrophy, Type IV'}], 'ancestors': [{'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D016472', 'term': 'Motor Neuron Disease'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], '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'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'PREVENTION', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 27}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-05-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2027-01-15', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-29', 'studyFirstSubmitDate': '2025-12-29', 'studyFirstSubmitQcDate': '2025-12-29', 'lastUpdatePostDateStruct': {'date': '2026-01-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-01-12', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-01-15', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Ability to identify a [2+0] SMN1 genotype', 'timeFrame': 'From enrollment until the end of the analyses (36 months)'}], 'secondaryOutcomes': [{'measure': 'Ability to perform assembly of ultra-long molecules of DNA', 'timeFrame': 'From enrollment until the end of the analyses (36 months)'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['SMA, SMN1, long read, cis duplication, genetic counselling'], 'conditions': ['Spinal Muscular Atrophy (SMA)']}, 'descriptionModule': {'briefSummary': 'Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling.\n\nThis study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.', 'detailedDescription': 'Spinal Muscular Atrophy (SMA) is a severe autosomal recessive neuromuscular disease, with the most severe form leading to death in children without treatment. Genetic counseling to detect couples where both partners are heterozygous is particularly important. In some countries, preconception screening is offered. However, some individuals\' heterozygous status escape detection due to the existence of a cis duplication of the SMN1 gene on the second allele (\\[2+0\\] genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these \\[2+0\\] genotypes, which poses a significant challenge in genetic counseling.\n\nThe SMN1 gene, responsible for SMA, is located in the 5q11q13 region, which remains poorly understood in the human reference genome ("dark region"). The architecture of this inverted duplicated region favors recombination events that lead to deletions, duplications, and gene conversions. The SMN1 gene, located in the telomeric region, has a very homologous copy, the SMN2 gene, located in the centromeric region. The lack of detailed knowledge about duplication events hinders the development of molecular tools aimed at improving genetic counseling.\n\nThis study aims to use new technologies based on the analysis of ultra-long molecules to detect cis duplication of the SMN1 gene. We will assess the usefulness of optical mapping (Bionano) to analyze this complex region.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria\n\n• Adult Subject:\n\n* Subject with either:\n\n * 1 or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene\n * 2 copies of the SMN1 gene in cis (2+0 genotype) (test group)\n* Affiliation to French health insurance\n* Signed consent form\n\nExclusion Criteria\n\n* Pregnant or breastfeeding women\n* Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship'}, 'identificationModule': {'nctId': 'NCT07332702', 'acronym': 'LOREASI', 'briefTitle': 'Long Read Analysis in Spinal Muscular Atrophy - LOREASI', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Rouen'}, 'officialTitle': 'Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy', 'orgStudyIdInfo': {'id': '2023/0154/HP'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Control group', 'description': 'subjects carrying 1 or 3 copies of the SMN1 gene and a variable number of copies of the SMN2 gene', 'interventionNames': ['Genetic: blood sample']}, {'type': 'EXPERIMENTAL', 'label': 'Test group', 'description': 'subjects carrying a 2+0 genotype (two copies of the SMN1 gene in cis on one allele and a deletion on the other allele)', 'interventionNames': ['Genetic: blood sample']}], 'interventions': [{'name': 'blood sample', 'type': 'GENETIC', 'description': 'For subjects who agree to participate in the study, a blood sample will be taken (2x5 mL on EDTA) and sent the same day at 4°C to the genetics laboratory at Rouen University Hospital using a carrier that guarantees delivery on D+1', 'armGroupLabels': ['Control group', 'Test group']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Rouen', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Pascale Saugier-Veber', 'role': 'CONTACT', 'email': 'Pascale.Saugier-Veber@chu-rouen.fr', 'phone': '(+33) 2 32 88 64 51'}], 'facility': 'CHU Rouen', 'geoPoint': {'lat': 49.44313, 'lon': 1.09932}}], 'centralContacts': [{'name': 'Pascale Saugier-Veber, PharmD PhD', 'role': 'CONTACT', 'email': 'Pascale.Saugier-Veber@chu-rouen.fr', 'phone': '(+33) 2 32 88 64 51'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Rouen', 'class': 'OTHER'}, 'collaborators': [{'name': 'Agence de La Biomédecine', 'class': 'OTHER_GOV'}], 'responsibleParty': {'type': 'SPONSOR'}}}}