Ignite Creation Date:
2025-12-24 @ 4:19 PM
Ignite Modification Date:
2026-01-04 @ 2:13 AM
Study NCT ID:
NCT04768166
Status:
COMPLETED
Last Update Posted:
2022-04-11
First Post:
2021-02-12
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015419', 'term': 'Spastic Paraplegia, Hereditary'}], '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': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C059896', 'term': 'miglustat'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 10}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-06-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-04', 'completionDateStruct': {'date': '2021-09-15', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-04-01', 'studyFirstSubmitDate': '2021-02-12', 'studyFirstSubmitQcDate': '2021-02-22', 'lastUpdatePostDateStruct': {'date': '2022-04-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-02-24', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-08-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '1-Changes from baseline blood tests at 24 weeks 2-Changes from baseline neurophysiological tests at 24 weeks 3-Report of severe adverse events', 'timeFrame': 'At baseline, 24 weeks', 'description': 'routine blood test'}], 'secondaryOutcomes': [{'measure': 'Changes from baseline GM2/GM3 levels at 24 weeks', 'timeFrame': 'At baseline, 24 weeks', 'description': 'lipid assessments'}, {'measure': 'Assess changes in the scores of the Spastic Paraplegia Rating Scale (SPRS) at 24 weeks', 'timeFrame': 'At baseline, 24 weeks', 'description': 'SPRS rates disease severity (0-52) with lower numbers indicating less impairement'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Autophagic Lysosome Reformation', 'SPG11', 'Miglustat', 'Lisosomal Storage Disorders'], 'conditions': ['Hereditary Spastic Paraparesis']}, 'referencesModule': {'references': [{'pmid': '30723448', 'type': 'BACKGROUND', 'citation': 'Bellofatto M, De Michele G, Iovino A, Filla A, Santorelli FM. Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature. Front Neurol. 2019 Jan 22;10:3. doi: 10.3389/fneur.2019.00003. eCollection 2019.'}, {'pmid': '29949766', 'type': 'BACKGROUND', 'citation': 'Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.'}, {'pmid': '28237315', 'type': 'BACKGROUND', 'citation': 'Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22.'}, {'pmid': '24954637', 'type': 'BACKGROUND', 'citation': 'Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014 Nov;261:518-39. doi: 10.1016/j.expneurol.2014.06.011. Epub 2014 Jun 20.'}, {'pmid': '12803928', 'type': 'BACKGROUND', 'citation': 'Platt FM, Jeyakumar M, Andersson U, Heare T, Dwek RA, Butters TD. Substrate reduction therapy in mouse models of the glycosphingolipidoses. Philos Trans R Soc Lond B Biol Sci. 2003 May 29;358(1433):947-54. doi: 10.1098/rstb.2003.1279.'}]}, 'descriptionModule': {'briefSummary': 'Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function. Studies performed in skin cells (fibroblasts) from SPG11 patients, mice and zebrafish models of the disease showed that the material accumulated in the lysosomes is made of glycosphingolipids (GSL).\n\nMiglustat is a drug that inhibits an enzyme called glucosylceramide synthetase (GCS) which is used for the production of GSL. Miglustat, therefore, helps to delay the production of GSL. This study aims to collect preliminary data on the safety of miglustat on the SPG11 disease and to assess biomarkers.', 'detailedDescription': 'We will analyze the safety of Miglustat'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '14 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Written signed informed consent;\n* Confirmed diagnosis of SPG11;\n* Age \\> 13 years;\n* SPRS score ≥ 10 or ≤35;\n* Use of effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).\n\nExclusion Criteria:\n\n* Diagnosis of other concomitant neurodegenerative diseases;\n* Outcomes of severe pre- or peri-natal suffering;\n* Age ≤ 13 years;\n* SPRS score ≥ 35 or ≤10;\n* Hypersensitivity or intolerance to miglustat;\n* Participation in other pharmacological studies within 30 days of the first Study visit (T0);\n* The inability to take the drug;\n* Any additional medical conditions;\n* Subjects with severe renal impairment;\n* Refusal to use effective contraceptive methods and the performance of pregnancy tests (only fertile subjects).'}, 'identificationModule': {'nctId': 'NCT04768166', 'acronym': 'TreatSPG11', 'briefTitle': 'Testing Miglustat Administration in Subjects With Spastic Paraplegia 11', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS Fondazione Stella Maris'}, 'officialTitle': 'Phase 2 Pharmacological Trial to Evaluate the Safety of Miglustat Administration in Subjects With Spastic Paraplegia 11 (TreatSPG11)', 'orgStudyIdInfo': {'id': 'TreatSPG11'}, 'secondaryIdInfos': [{'id': '2019-002827-14', 'type': 'EUDRACT_NUMBER'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Evaluate the safety of Miglustat administration in subjects with Spastic Paraplegia 11', 'description': '100 mg of Miglustat, 3 caps per day for first 4 weeks; 100 mg of Miglustat, 6 caps per day for 8 weeks', 'interventionNames': ['Drug: Miglustat 100 MG']}], 'interventions': [{'name': 'Miglustat 100 MG', 'type': 'DRUG', 'otherNames': ['Genorph'], 'description': '100mg/TID in 4w then 200mg/TID in 8 w', 'armGroupLabels': ['Evaluate the safety of Miglustat administration in subjects with Spastic Paraplegia 11']}]}, 'contactsLocationsModule': {'locations': [{'zip': '56128', 'city': 'Pisa', 'state': 'PI', 'country': 'Italy', 'facility': 'IRCCS Fondazione Stella Maris', 'geoPoint': {'lat': 43.70853, 'lon': 10.4036}}], 'overallOfficials': [{'name': 'Filippo M Santorelli, MD PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'IRCCS Stella Maris'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS Fondazione Stella Maris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Director Molecular Medicine, Neurogenetics and Neuromuscular Disorders', 'investigatorFullName': 'Filippo Maria Santorelli', 'investigatorAffiliation': 'IRCCS Fondazione Stella Maris'}}}}