Ignite Creation Date:
2025-12-24 @ 1:39 PM
Ignite Modification Date:
2025-12-31 @ 6:34 PM
Study NCT ID:
NCT05236595
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2025-02-21
First Post:
2021-12-27
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Research for Individualized Therapeutics in Rare Genetic Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000080842', 'term': 'Undiagnosed Diseases'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Research blood collection kits will attempt to be collected on all active study participants. Other biospecimens including fibroblasts, CSF, saliva, buccal swabs, and tissue may also be collected under the protocol as needed.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}, 'targetDuration': '5 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2021-11-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2026-11', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-02-20', 'studyFirstSubmitDate': '2021-12-27', 'studyFirstSubmitQcDate': '2022-02-09', 'lastUpdatePostDateStruct': {'date': '2025-02-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-02-11', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-11', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Enrollment of study participants', 'timeFrame': '5 years', 'description': 'To recruit and enroll participants with a confirmed rare genetic disease whose genetic variants may be targetable by an ASO and/or other drug.'}, {'measure': 'Collection of biospecimens', 'timeFrame': '5 years', 'description': 'Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens'}, {'measure': 'Partnered research with external entities', 'timeFrame': '5 years', 'description': 'To engage in partnered research with external entities (foundations, academia, and drug companies) to facilitate the ASO and/or other drug development and testing.'}, {'measure': 'Future IND applications', 'timeFrame': '5 years', 'description': 'To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.'}, {'measure': 'Determine natural history and clinical baseline', 'timeFrame': '5 years', 'description': "To determine the natural history and clinical baseline of patient's disease status. This will be used to determine efficacy when treated with experimental ASO and/or other drug."}, {'measure': 'Determine individualized therapeutic efficacy', 'timeFrame': '5 years', 'description': 'To determine clinical efficacy of treatment with experimental ASO and/or other drug.'}, {'measure': 'Publish findings', 'timeFrame': '5 years', 'description': 'To publish and/or share findings to improve patient specific ASO and/or other drug development and increase the number of therapeutic options for individuals with rare genetic disease.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Rare Genetic Disease', 'Undiagnosed Diseases']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.mayo.edu/research/clinical-trials', 'label': 'Mayo Clinic Clinical Trials'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Has Mayo Clinic or other medical health system ID, or another unique identifier.\n* Able to provide informed consent.\n* Individual must have evidence of a genetic disorder as determined by a provider or genetic counselor with causative or likely causative genetic variants identified by molecular testing.\n* Genetic variants must be hypothesized to be targetable using antisense oligonucleotide drugs (such as: knockdown gain of function alterations, increase protein production for reduced function alterations, or modulate mRNA splicing to correct abnormal splicing, promote normal splicing, or return reading frame to an out-of-frame transcript to restore function, etc.) based on current acceptable understanding of ASO mechanisms of action and tissue/organ targeting efficiency.\n* Biological family member of an enrolled individual.\n* Would be able to travel to a Mayo Clinic site for ongoing treatment should a therapeutic be developed.\n* Treatment at the individual's current disease state would likely provide benefit based on current clinical data and understanding of the progression of the disease.\n\n-Or-\n\n* Biological family member of an enrolled individual\n* Able to provide informed consent or has a LAR available to provide informed consent\n\nExclusion Criteria\n\n* Individuals who have situations that would limit compliance with the study requirements.\n* Institutionalized (i.e. Federal Medical Prison)."}, 'identificationModule': {'nctId': 'NCT05236595', 'briefTitle': 'Research for Individualized Therapeutics in Rare Genetic Disease', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Research for Individualized Therapeutics in Rare Genetic Disease', 'orgStudyIdInfo': {'id': '21-006562'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Rare genetic disease individualized drug development screening candidate', 'description': 'Patients with targetable disease-causing genetic alterations will be evaluated on a case by case basis. The research study will utilize biospecimens to determine if an individualized therapeutic may be developed as a possible treatment option. If an individualized therapeutic drug can be developed, a future IND FDA application (n=1) will be filed.', 'interventionNames': ['Other: Individualized drug matching per genetic disease']}], 'interventions': [{'name': 'Individualized drug matching per genetic disease', 'type': 'OTHER', 'description': 'Patient phenotype and samples will be evaluated for individualized therapeutic drug development', 'armGroupLabels': ['Rare genetic disease individualized drug development screening candidate']}]}, 'contactsLocationsModule': {'locations': [{'zip': '85259', 'city': 'Scottsdale', 'state': 'Arizona', 'country': 'United States', 'facility': 'Mayo Clinic in Arizona', 'geoPoint': {'lat': 33.50921, 'lon': -111.89903}}, {'zip': '32224', 'city': 'Jacksonville', 'state': 'Florida', 'country': 'United States', 'facility': 'Mayo Clinic Florida', 'geoPoint': {'lat': 30.33218, 'lon': -81.65565}}, {'zip': '55905', 'city': 'Minneota', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic Rochester', 'geoPoint': {'lat': 44.55885, 'lon': -95.98559}}], 'overallOfficials': [{'name': 'Brendan C Lanpher, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Brendan C. Lanpher', 'investigatorAffiliation': 'Mayo Clinic'}}}}