Ignite Creation Date:
2025-12-25 @ 12:17 AM
Ignite Modification Date:
2026-02-20 @ 11:49 PM
Study NCT ID:
NCT06343558
Status:
RECRUITING
Last Update Posted:
2025-08-03
First Post:
2024-03-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009103', 'term': 'Multiple Sclerosis'}, {'id': 'D010300', 'term': 'Parkinson Disease'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D020278', 'term': 'Demyelinating Autoimmune Diseases, CNS'}, {'id': 'D020274', 'term': 'Autoimmune Diseases of the Nervous System'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D020734', 'term': 'Parkinsonian Disorders'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D000080874', 'term': 'Synucleinopathies'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D011795', 'term': 'Surveys and Questionnaires'}], 'ancestors': [{'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'targetDuration': '1 Year', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-05-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2027-05-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-08-01', 'studyFirstSubmitDate': '2024-03-08', 'studyFirstSubmitQcDate': '2024-03-26', 'lastUpdatePostDateStruct': {'date': '2025-08-03', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-04-02', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-05-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Balance (Mini-BESTest)', 'timeFrame': 'At enrollment', 'description': 'Mini Balance Evaluation Systems Test (Mini-BESTest, an ordinal score of balance)'}, {'measure': 'Balance (Timed Up and Go test)', 'timeFrame': 'At enrollment', 'description': 'Timed Up and Go test instrumented with inertial sensors'}, {'measure': 'Gait speed', 'timeFrame': 'At enrollment', 'description': '10 m walking test'}, {'measure': 'Gait analysis - kinematic - stride length', 'timeFrame': 'At enrollment', 'description': 'Stride length, right step length and left step length'}, {'measure': 'Gait analysis - kinematic - duration', 'timeFrame': 'At enrollment', 'description': 'Stride duration, right and left step duration'}, {'measure': 'Gait analysis - kinematic - width of the base of support', 'timeFrame': 'At enrollment', 'description': 'Width of the base of support'}, {'measure': 'Gait analysis - kinematic - dorsal ankle angle', 'timeFrame': 'At enrollment', 'description': 'Dorsal ankle angle'}, {'measure': 'Gait analysis - dynamic - reaction force', 'timeFrame': 'At enrollment', 'description': 'Anterior-posterior, mediolateral and vertical reaction force'}, {'measure': 'Gait analysis - dynamic - ankle power', 'timeFrame': 'At enrollment', 'description': 'Right and left ankle power'}, {'measure': 'Gait analysis - dynamic - energy', 'timeFrame': 'At enrollment', 'description': 'Potential and kinetic energy of the body centre of mass'}, {'measure': 'Posturography - static - centre of pressure position', 'timeFrame': 'At enrollment', 'description': 'Centre of pressure position while standing'}, {'measure': 'Posturography - static - centre of mass position', 'timeFrame': 'At enrollment', 'description': 'Centre of mass position while standing'}, {'measure': 'Posturography - dynamic - centre of pressure position', 'timeFrame': 'At enrollment', 'description': 'Centre of pressure position after base of support perturbations'}, {'measure': 'Posturography - dynamic - centre of mass position', 'timeFrame': 'At enrollment', 'description': 'Centre of mass position after base of support perturbations'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Rare neurological diseases', 'Very rare neurological diseases', 'Undiagnosed neurological diseases', 'Upright stance', 'Balance', 'Risk of falling', 'Gait analysis', 'Posturography'], 'conditions': ['Multiple Sclerosis', 'Parkinson Disease', 'Peripheral Neuropathy', 'Rare Diseases', 'Healthy', 'Healthy Aging']}, 'referencesModule': {'references': [{'pmid': '33519696', 'type': 'BACKGROUND', 'citation': 'Reinhard C, Bachoud-Levi AC, Baumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krageloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Perez Duenas B, Renna Linton L, Schols L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H. The European Reference Network for Rare Neurological Diseases. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.'}, {'pmid': '21256450', 'type': 'BACKGROUND', 'citation': 'The Lancet Neurology. Rare neurological diseases: a united approach is needed. Lancet Neurol. 2011 Feb;10(2):109. doi: 10.1016/S1474-4422(11)70001-1. No abstract available.'}, {'pmid': '17200478', 'type': 'BACKGROUND', 'citation': 'Ganz DA, Bao Y, Shekelle PG, Rubenstein LZ. Will my patient fall? JAMA. 2007 Jan 3;297(1):77-86. doi: 10.1001/jama.297.1.77.'}, {'pmid': '27125497', 'type': 'BACKGROUND', 'citation': 'Vieira ER, Palmer RC, Chaves PH. Prevention of falls in older people living in the community. BMJ. 2016 Apr 28;353:i1419. doi: 10.1136/bmj.i1419. No abstract available.'}, {'pmid': '29413799', 'type': 'BACKGROUND', 'citation': 'Caronni A, Sterpi I, Antoniotti P, Aristidou E, Nicolaci F, Picardi M, Pintavalle G, Redaelli V, Achille G, Sciume L, Corbo M. Criterion validity of the instrumented Timed Up and Go test: A partial least square regression study. Gait Posture. 2018 Mar;61:287-293. doi: 10.1016/j.gaitpost.2018.01.015. Epub 2018 Jan 31.'}, {'pmid': '32979787', 'type': 'BACKGROUND', 'citation': "Picardi M, Redaelli V, Antoniotti P, Pintavalle G, Aristidou E, Sterpi I, Meloni M, Corbo M, Caronni A. Turning and sit-to-walk measures from the instrumented Timed Up and Go test return valid and responsive measures of dynamic balance in Parkinson's disease. Clin Biomech (Bristol). 2020 Dec;80:105177. doi: 10.1016/j.clinbiomech.2020.105177. Epub 2020 Sep 18."}, {'pmid': '32356754', 'type': 'BACKGROUND', 'citation': 'Caronni A, Gervasoni E, Ferrarin M, Anastasi D, Brichetto G, Confalonieri P, Di Giovanni R, Prosperini L, Tacchino A, Solaro C, Rovaris M, Cattaneo D, Carpinella I. Local Dynamic Stability of Gait in People With Early Multiple Sclerosis and No-to-Mild Neurological Impairment. IEEE Trans Neural Syst Rehabil Eng. 2020 Jun;28(6):1389-1396. doi: 10.1109/TNSRE.2020.2991636. Epub 2020 Apr 30.'}, {'pmid': '35967003', 'type': 'BACKGROUND', 'citation': 'Scarano S, Sansone VA, Ferrari Aggradi CR, Carraro E, Tesio L, Amadei M, Rota V, Zanolini A, Caronni A. Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit. Front Hum Neurosci. 2022 Jul 28;16:925299. doi: 10.3389/fnhum.2022.925299. eCollection 2022.'}, {'pmid': '35355583', 'type': 'BACKGROUND', 'citation': "Scarano S, Rota V, Tesio L, Perucca L, Robecchi Majnardi A, Caronni A. Balance Impairment in Fahr's Disease: Mixed Signs of Parkinsonism and Cerebellar Disorder. A Case Study. Front Hum Neurosci. 2022 Mar 9;16:832170. doi: 10.3389/fnhum.2022.832170. eCollection 2022."}]}, 'descriptionModule': {'briefSummary': 'Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of \\< 5 out of 10\'000 and 100\'000 people, respectively. Besides these, there are undiagnosed neurological diseases: neurological conditions without a diagnosis after completing a full diagnostic examination.\n\nRare, very rare, and undiagnosed neurological diseases are complicated and progressive and often cause variegated motor signs, impairments, and syndromes.\n\nBalance and gait are frequently affected in these conditions, already at the clinical examination. These balance and gait impairments limit activities and cause an increased risk of falling. Falls can eventually result in injuries, even severe.\n\nThere are only a few studies about these diseases, likely because of their rarity. Hence, the clinical presentation and the course of rare and very rare diseases are poorly known or even unknown. Essential information for these conditions\' diagnosis, prognosis, treatment and rehabilitation is missing.\n\nMaNeNeND is an observational study underway at the Fondazione IRCCS Istituto Neurologico "Carlo Besta" (Milano) aimed at detailing the clinical and biological features of very rare and undiagnosed neurological diseases.\n\nResearch questions:\n\n1. Do patients with rare (Ra), very rare (V) and undiagnosed (U) neurological diseases suffer a balance and gait impairment?\n2. Is there a correlation between the clinical and instrumental severity of the balance and gait impairment in RaVU neurological diseases?\n3. Are instrumental measures more sensitive in detecting balance and gait impairments in patients affected by a RaVU neurological disease than the clinical measures?\n4. Do the balance and gait impairments in RaVU neurological diseases worsen in time?\n\nThe current project aims at diagnosing, quantifying and detailing the balance and gait impairment in rare, very rare and undiagnosed neurological diseases.\n\nTo this aim, questionnaires, clinical scales and instrumental tests will be administered to these patients to collect a wide range of balance and gait measures.\n\nThese measures will also integrate those collected with MaNeNeND to provide a more detailed description of patients with rare, very rare and diagnosed neurological diseases.\n\nParticipants will complete two questionnaires: the Dizziness Handicap Inventory - short form (DHI-sf, an ordinal score of self-perceived balance) and the Modified Fatigue Impact Scale (MFIS, an ordinal score of self-perceived fatigue).\n\nMoreover, a clinician will administer the Mini Balance Evaluation Systems Test (Mini-BESTest, an ordinal score of balance), the 10 m walking test (for measuring the gait speed and other gait parameters) and the Timed Up and Go test (an instrumental measure of mobility and balance). Walking and the Timed Up and Go tests will be recorded with a trunk-worn inertial measurement unit.\n\nFinally, participants will be asked to complete an instrumental upright stance and gait assessment, the first consisting of standing on posturographic plates and the second of walking on a treadmill equipped with force sensors. When walking on the treadmill, an optoelectronic system will also record the position in time of limbs and trunk.\n\nThe quantification of the severity of the balance and gait impairment of the patients suffering a rare, very rare or undiagnosed neurological disease will highlight these persons\' therapeutic and rehabilitative needs.\n\nComparing the balance and gait impairment of rare, very rare and undiagnosed diseases with those of multiple sclerosis, Parkinson\'s disease and peripheral neuropathy will highlight if the formers\' balance and gait impairment has unique characteristics that could help ease the diagnosis of these uncommon conditions.\n\nThe longitudinal measurements on rare, very rare and undiagnosed diseases will be paramount to identifying prognostic factors.\n\nIn addition, the data collected in the current study will be crucial for future studies, for example, for estimating the sample size in clinical trials.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '18 Years', 'genderBased': True, 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "Patients with a balance and gait impairment secondary to multiple sclerosis, Parkinson's disease, peripheral neuropathy of the lower limbs, a rare, ultrarare or undiagnosed neurological disease.\n\nA group of age-matched controls will also be recruited.", 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion criteria\n\n* Multiple sclerosis, Parkinson's disease, peripheral neuropathy of the lower limbs or rare or ultrarare neurological disease (e.g. la Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome - CANVAS, ORPHAcode: 504476; Wilson's disease, ORPHAcode: 905)\n* undiagnosed neurological disease, i.e. a neurological disease that remains unknown after a full diagnostic assessment;\n* age \\> 18 years;\n* ability to stand upright with no assistance and no assistive device for \\> 30 seconds;\n* ability to walk without assistance and with no assistive device for \\> 50 m;\n* ability to give their informed consent.\n\nExclusion criteria\n\n* pregnancy or breastfeeding\n* any other medical conditions affecting by itself balance and gait (e.g. lower limb amputation, hemiparesis due to a stroke)\n* major orthopaedic surgery (e.g. hip or knee replacement)."}, 'identificationModule': {'nctId': 'NCT06343558', 'acronym': 'GALVANISE', 'briefTitle': 'Gait and Balance Impairment in Rare and Very Rare Neurological Diseases', 'organization': {'class': 'OTHER', 'fullName': 'Istituto Auxologico Italiano'}, 'officialTitle': 'Gait and Balance Impairment in Rare and Very Rare Neurological Diseases', 'orgStudyIdInfo': {'id': '24C302'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Healthy controls', 'interventionNames': ['Other: Questionnaires, clinical scales and instrumental tests']}, {'label': "Parkinson's disease patients", 'interventionNames': ['Other: Questionnaires, clinical scales and instrumental tests']}, {'label': 'Multiple sclerosis patients', 'interventionNames': ['Other: Questionnaires, clinical scales and instrumental tests']}, {'label': 'Peripheral neuropathies of the lower limbs', 'interventionNames': ['Other: Questionnaires, clinical scales and instrumental tests']}, {'label': 'Rare and ultrarare neurological diseases', 'interventionNames': ['Other: Questionnaires, clinical scales and instrumental tests']}], 'interventions': [{'name': 'Questionnaires, clinical scales and instrumental tests', 'type': 'OTHER', 'description': 'Questionnaires, clinical scales and instrumental tests to collect a wide range of balance and gait measures.', 'armGroupLabels': ['Healthy controls', 'Multiple sclerosis patients', "Parkinson's disease patients", 'Peripheral neuropathies of the lower limbs', 'Rare and ultrarare neurological diseases']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Milan', 'state': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Antonio Caronni, MD, PhD', 'role': 'CONTACT', 'email': 'a.caronni@auxologico.it', 'phone': '02 619111'}], 'facility': 'IRCCS Istituto Auxologico Italiano', 'geoPoint': {'lat': 42.78235, 'lon': 12.59836}}, {'city': 'Milan', 'status': 'ACTIVE_NOT_RECRUITING', 'country': 'Italy', 'facility': 'IRCCS Istituto Neurologico Carlo Besta', 'geoPoint': {'lat': 42.78235, 'lon': 12.59836}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'The database will be made available upon request on Zenodo.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Istituto Auxologico Italiano', 'class': 'OTHER'}, 'collaborators': [{'name': 'IRCCS Istituto Neurologico Carlo Besta', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}