Ignite Creation Date:
2025-12-24 @ 10:01 PM
Ignite Modification Date:
2025-12-25 @ 7:38 PM
Study NCT ID:
NCT07223632
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-11-03
First Post:
2025-10-27
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002607', 'term': 'Charcot-Marie-Tooth Disease'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}], 'ancestors': [{'id': 'D015417', 'term': 'Hereditary Sensory and Motor Neuropathy'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D011115', 'term': 'Polyneuropathies'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE1', 'PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 1}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2025-05-13', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-30', 'studyFirstSubmitDate': '2025-10-27', 'studyFirstSubmitQcDate': '2025-10-30', 'lastUpdatePostDateStruct': {'date': '2025-11-03', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-11-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Assessment of safety of therapy with VCA-894A when administered via intrathecal injection, as measured by the incidence of adverse events.', 'timeFrame': '295 days', 'description': 'Safety will be assessed by determining the incidence, severity, and dose relationship of adverse events that are related to treatment with VCA-894A.'}, {'measure': 'Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Revised Upper Limb Module for Spinal Muscular Atrophy (RULM).', 'timeFrame': '295 days', 'description': 'The Revised Upper Limb Module for Spinal Muscular Atrophy (RULM) scores range from a minimum of 0 to a maximum of 37 points, with higher scores indicating better upper limb function.'}, {'measure': 'Assessment of CMT2S symptoms following chronic administration of intrathecal VCA-894A, as determined by the change in the Hammersmith Functional Motor Scale - Expanded (HFMSE).', 'timeFrame': '295 days', 'description': 'The Hammersmith Functional Motor Scale - Expanded (HFMSE) scores range from a minimum of 0 to a maximum of 66 points, with higher scores indicating greater motor functioning.'}], 'secondaryOutcomes': [{'measure': 'Rescue of IGHMBP2, as determined by the change in IGHMBP2 mRNA expression from baseline.', 'timeFrame': '295 days', 'description': 'IGHMBP2 mRNA, which is the target of VCA-894A therapy, will be measured in both the cerebrospinal fluid (CSF) and blood by qPCR relative expression.'}]}, 'oversightModule': {'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Charcot Marie Tooth Disease (CMT)', 'Neuromuscular Diseases (NMD)']}, 'referencesModule': {'references': [{'pmid': '40060931', 'type': 'BACKGROUND', 'citation': 'Smieszek S, Przychodzen B, Tyner C, Johnson C, Bai H, Kwon JM, Hagan DW, Niccum C, Brighton R, Hawkins K, Aiken R, Nawaz A, Guo X, Hickman J, Polymeropoulos CM, Birznieks G, Polymeropoulos MH. Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S. Mol Ther Nucleic Acids. 2025 Feb 4;36(1):102479. doi: 10.1016/j.omtn.2025.102479. eCollection 2025 Mar 11.'}]}, 'descriptionModule': {'briefSummary': "This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection."}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Ability and acceptance to provide written informed consent.\n* Genetically confirmed diagnosis of CMT2S with confirmed IGHMBP2 intronic cryptic splice variant c. 1235+894C\\>A.\n\nExclusion Criteria:\n\n* Significant clinical deterioration of the patient's neurologic status, as judged by the Investigator.\n* Non-reversible conditions that are contraindications to lumbar puncture.\n* Pregnancy, recent pregnancy (within 6 weeks), or women who are breastfeeding."}, 'identificationModule': {'nctId': 'NCT07223632', 'briefTitle': 'Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient', 'organization': {'class': 'INDUSTRY', 'fullName': 'Vanda Pharmaceuticals'}, 'officialTitle': 'The Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient With Confirmed IGHMBP2 Intronic Cryptic Splice Variant C. 1235+894C>A That is Amenable to Antisense Oligonucleotide (ASO)-Mediated Correction of IGHMBP2 Splicing', 'orgStudyIdInfo': {'id': 'VP-VCA-894A-2101'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'VCA-894A', 'interventionNames': ['Drug: VCA-894A']}], 'interventions': [{'name': 'VCA-894A', 'type': 'DRUG', 'description': 'intrathecal antisense oligonucleotide injection', 'armGroupLabels': ['VCA-894A']}]}, 'contactsLocationsModule': {'locations': [{'zip': '53792', 'city': 'Madison', 'state': 'Wisconsin', 'country': 'United States', 'facility': 'Vanda Investigational Site', 'geoPoint': {'lat': 43.07305, 'lon': -89.40123}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Vanda Pharmaceuticals', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}