[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100654219":3},{"organization":4,"outcomesModule":7,"designInfo":63,"detailedDescription":67,"studyPopulation":68,"armGroups":69,"interventions":64,"overallOfficials":82,"centralContacts":87,"locations":93,"responsibleParty":678,"collaborators":682,"id":695,"slug":696,"hasResults":697,"nctId":698,"briefTitle":699,"officialTitle":700,"acronym":701,"eligibilityCriteria":702,"healthyVolunteers":703,"sex":704,"minAge":705,"maxAge":64,"enrollmentInfo":706,"targetDuration":709,"studyType":710,"phases":64,"briefSummary":711,"conditions":712,"keywords":715,"overallStatus":96,"whyStopped":64,"lastUpdateSubmitDate":728,"lastUpdatePostDateStruct":729,"startDateStruct":732,"completionDateStruct":734,"leadSponsor":736,"locationsCount":737},{"fullName":5,"class":6},"Heidelberg University","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":19,"otherOutcomes":35},[9,13,16],{"measure":10,"description":11,"timeFrame":12},"Modified Spastic Paraplegia Rating Scale","The modified Spastic Paraplegia Rating Scale (mSPRS) is a clinician-reported outcome measure assessing disease severity in hereditary spastic paraplegia and related spastic movement disorders. It evaluates functional mobility, spasticity, muscle strength, pain and bladder function. The mSPRS is adapted from the original Spastic Paraplegia Rating Scale to improve feasibility and sensitivity to change in longitudinal studies. It can be applied in individuals aged 5 years and older, with higher scores indicating greater disease severity.\n\nThe mSPRS serves as the primary outcome measure for the assessment of disease severity in all participants with hereditary spastic paraplegia.","Through study completion, an average of 5 years, measured annually",{"measure":14,"description":15,"timeFrame":12},"Scale for the Assessment and Rating of Ataxia (SARA)","The Scale for the Assessment and Rating of Ataxia (SARA) is a standardized clinician-reported outcome measure used to quantify the severity of ataxia. It assesses key domains including gait, stance, sitting, speech disturbance, limb coordination, and fine motor control. The SARA provides a global measure of ataxia-related motor impairment and is widely used in both clinical practice and longitudinal research studies. The SARA is applied in study participants aged 8 years and older, with higher scores indicating greater ataxia severity. The SARA serves as the primary outcome measure for the assessment of disease severity in all participants with ataxia.",{"measure":17,"description":18,"timeFrame":12},"SPAX Composite Scale (SPAXCOM)","SPAXCOM is a clinician-reported composite outcome measure developed to assess disease severity in individuals with spastic ataxia. It integrates key motor and functional domains relevant to spastic-ataxic phenotypes, including gait and balance, coordination, spasticity, and functional mobility. SPAXCOM is designed to capture the combined contribution of pyramidal and cerebellar dysfunction and to provide a sensitive measure of disease severity and progression in spastic ataxia. Higher scores indicate greater disease severity. SPAXCOM serves as the primary outcome measure for participants with spastic ataxia.",[20,23,26,29,32],{"measure":21,"description":22,"timeFrame":12},"Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL)","The Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) assesses the impact of neurological impairment on everyday functioning, including walking, balance, speech, hand function, and self-care. In this study, both a clinician-reported (ClinRO) version and a patient-reported (PROM) version of the FARS-ADL are used to capture functional limitations from complementary perspectives and are applied in study participants aged 8 years and older. Although originally developed for Friedreich ataxia, the FARS-ADL is applicable across a range of ataxic and spastic movement disorders. Higher scores indicate greater functional impairment and reduced independence in daily activities.",{"measure":24,"description":25,"timeFrame":12},"Inventory of Non-Ataxia Signs - PLUS (INAS-PLUS)","INAS-PLUS is a clinician-reported inventory, derived from the original Inventory of Non-Ataxia Signs (INAS) and expanded by additional items, used to quantify the burden of neurological signs beyond core ataxia features in spastic and spastic-ataxic disorders.",{"measure":27,"description":28,"timeFrame":12},"MRC Sum Score for Muscle Strength","The Medical Research Council (MRC) Sum Score is a clinician-reported measure of global muscle strength based on standardized manual muscle testing across selected muscle groups. Individual muscle grades are summed to provide an overall estimate of muscle strength, with lower scores indicating greater weakness.",{"measure":30,"description":31,"timeFrame":12},"TreatHSP Quality of Life (TreatHSP-QoL)","The TreatHSP Quality of Life (TreatHSP-QoL) questionnaire is a disease-specific patient-reported outcome measure assessing health-related quality of life, including physical, functional, and psychosocial aspects, and is used in adults aged 18 years and older with hereditary spastic paraplegia and spastic ataxia.",{"measure":33,"description":34,"timeFrame":12},"Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)","The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) is a caregiver-reported outcome measure developed for children and adolescents with motor disabilities. In this study, the CPCHILD is applied in all children aged 5 to 12 years, as well as in older individuals with cognitive impairment who are unable to reliably complete self-reported questionnaires.",[36,39,42,45,48,51,54,57,60],{"measure":37,"description":38,"timeFrame":12},"FARS Functional Staging","The Friedreich Ataxia Rating Scale - Functional Staging (FARS-FS) is an ordinal measure of functional disease severity based on mobility and independence in activities of daily living. In this study, both a clinician-reported (ClinRO) version and a patient-reported (PROM) version of the FARS-FS are used to capture functional status from complementary perspectives. The FARS-FS serves as an anchor measure to support the determination and interpretation of clinically meaningful change in primary and secondary outcome measures over time.",{"measure":40,"description":41,"timeFrame":12},"SPATAX Disability Stage","SPATAX Disability Stage is a clinician-reported ordinal staging system that categorizes overall disability based on mobility and functional dependence. It provides a global measure of disease severity and is used in this study as an anchor measure to support the interpretation of clinically meaningful change in primary and secondary outcomes.",{"measure":43,"description":44,"timeFrame":12},"Clinical Global and Domain-Specific Impression of Severity and Change (CGI-S\u002FCGI-C)","Clinical Global and Domain-Specific Impression of Severity and Change are clinician-reported assessments capturing overall disease severity and longitudinal change, as well as change within specific functional domains. The selected domains reflect disease impacts prioritized by individuals with SPAX diseases for their relevance to everyday life. These measures are used as anchor measures to contextualize and determine meaningful change in primary and secondary outcome measures.",{"measure":46,"description":47,"timeFrame":12},"Patient-reported Global and Domain-Specific Impression of Severity and Change (PGI-S \u002F PGI-C)","Patient-reported Global and Domain-Specific Impression of Severity and Change are self-reported assessments capturing overall disease severity and longitudinal change, as well as change within specific functional domains. The selected domains reflect disease impacts prioritized by individuals with SPAX diseases for their relevance to everyday life. These patient-reported measures are used as anchor measures to support the interpretation and determination of clinically meaningful change in primary and secondary outcome measures.",{"measure":49,"description":50,"timeFrame":12},"Functional Mobility Scale (FMS)","The Functional Mobility Scale (FMS) is a clinician-reported measure of functional walking ability that classifies mobility across different distances and everyday environments. It provides an ordinal assessment of functional mobility and is used in this study as an anchor measure to support the interpretation of clinically meaningful change in primary and secondary outcome measures.",{"measure":52,"description":53,"timeFrame":12},"The Gross Motor Function Classification - MLD (GMFC-MLD)","The Gross Motor Function Classification - MLD (GMFC-MLD) is a clinician-reported ordinal classification system used to describe gross motor function and mobility limitations in children. It categorizes functional abilities based on age-appropriate motor skills and need for assistance. In this study, the GMFC-MLD is used as an anchor measure to support the interpretation of clinically meaningful change in outcome measures in children aged 5 to 12 years.",{"measure":55,"description":56,"timeFrame":12},"TreatHSP Mobility Questionnaire","The Mobility Change Questionnaire is a patient- or observer-reported anchor measure assessing perceived change in walking ability over the preceding week compared with the previous study visit. It captures mobility-related domains including walking distance and speed, effort, balance confidence, fear of falling, and overall walking ability. Depending on age and cognitive status, the questionnaire is completed by the participant or an observer and is used to support the interpretation of clinically meaningful change in primary and secondary outcome measures.",{"measure":58,"description":59,"timeFrame":12},"Achievement of developmental milestones","Achievement of key developmental motor milestones (unsupported sitting, unsupported standing, assisted walking, unsupported walking) will be assessed via caregiver\u002Fpatient report. For each milestone, achievement status will be recorded as yes\u002Fno\u002Funknown. Age at achievement will be reported in months for milestones confirmed as achieved. Where an exact age cannot be recalled, this will be noted as either delayed-but-unrecalled or achieved-at-normal-age-but-unrecalled.",{"measure":61,"description":62,"timeFrame":12},"Milestone regression","Loss of previously achieved motor function will be assessed via caregiver\u002Fpatient report across four regression milestones: new requirement for sitting support, new requirement for standing support, new requirement for a walking aid (used for \\>50% of walking activity), and new requirement for a wheelchair (used for \\>50% of locomotion). For each milestone, status will be recorded as yes\u002Fno\u002Funknown, with the calendar year of onset documented where applicable.",{"allocation":64,"interventionModel":64,"interventionModelDescription":64,"primaryPurpose":64,"observationalModel":65,"timePerspective":66,"maskingInfo":64},null,"COHORT","PROSPECTIVE","Overview and Objectives: The TreatHSP Protocol defines an adaptive observational study platform for natural history research, outcome development, and biomarker discovery in ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (SPAX diseases). The platform is designed to support longitudinal, regulatory-grade data collection across genetically and clinically heterogeneous rare neurological disorders.\n\nWithin the TreatHSP platform, TreatHSP\u002FSPAX represents the core natural history study. All participants are enrolled into TreatHSP\u002FSPAX and undergo a standardized set of core assessments, forming the backbone of the platform. Additional disease- or hypothesis-specific investigations may be conducted within the same platform framework.\n\nThe primary objectives of the TreatHSP platform are to:\n\nCharacterize the longitudinal clinical course of SPAX diseases across genotypes, ages, and disease stages.\n\nIdentify, develop, and validate patient-relevant clinical outcome assessments. Discover and validate molecular, imaging, digital, and functional biomarkers relevant for disease progression, prognosis, and therapy development.\n\nEstablish a harmonized data and biosample resource to support clinical trial readiness and secondary research.\n\nAdaptive Platform Design: The TreatHSP Master Protocol follows design principles analogous to interventional platform trials, adapted for observational research. A single master protocol governs all study activities, including governance, ethics, consent, data protection, and quality assurance.\n\nThe TreatHSP\u002FSPAX core natural history study defines:\n\nCore eligibility principles Mandatory clinical, functional, and patient-reported assessments Standardized biosample collection Common data elements and anchor outcome measures\n\nWithin this framework, additional adaptive Natural History Study appendices may be introduced as protocol amendments. These appendices add optional assessments (e.g. digital mobility monitoring, advanced imaging, biomarker studies) in predefined participant subsets, while preserving the integrity of the core cohort and dataset.\n\nThis adaptive design enables parallel investigation of multiple disease subgroups and research questions under a single, continuously evolving protocol.\n\nStudy Population:\n\nThe platform includes:\n\nIndividuals of all ages with a clinical or genetic diagnosis of an ataxia, hereditary spastic paraplegia, or spastic ataxia, including presymptomatic mutation carriers.\n\nSelected affected or unaffected family members. Healthy unrelated control participants for selected analyses.\n\nRegistry Procedures and Quality Assurance:\n\nThe TreatHSP\u002FSPAX core study functions as a structured patient registry within the TreatHSP Platform and follows predefined quality standards.\n\nData Collection and Validation:\n\nData are collected using standardized electronic case report forms. Automated data checks are applied to ensure validity, plausibility, and internal consistency. Queries are generated and resolved by trained study personnel.\n\nSource Data Verification:\n\nData entered into the registry may be verified against source documents (e.g. medical records, imaging reports, laboratory data) using a risk-based and sample-based approach.\n\nData Dictionary:\n\nA comprehensive data dictionary defines all variables collected within the platform, including variable definitions, data sources, coding standards (e.g. Human Phenotype Ontology, MedDRA where applicable), and reference ranges when relevant.\n\nStandard Operating Procedures:\n\nStandard Operating Procedures govern patient recruitment, informed consent, data collection, data management, biosample handling, quality control, statistical analysis, reporting, and change management for adaptive protocol amendments.\n\nMonitoring and Auditing:\n\nCentral data monitoring and periodic site-level reviews are conducted to ensure data quality, protocol adherence, and compliance with ethical and regulatory requirements.\n\nSample Size and Statistical Considerations:\n\nDue to the rarity and heterogeneity of SPAX diseases, the TreatHSP Platform does not define a fixed sample size. Enrollment is open-ended to ensure broad representation across disease subtypes. Statistical analyses are primarily longitudinal and descriptive, with detailed analysis plans defined for specific substudies as needed.\n\nHandling of Missing Data:\n\nMissing data are explicitly documented and categorized. Statistical analyses account for missing data using appropriate longitudinal methods and sensitivity analyses, depending on the research question.\n\nData Protection and Governance:\n\nAll data are pseudonymized and handled in accordance with applicable data protection regulations. Access to identifiable information is restricted to authorized personnel. Data sharing for secondary research is governed by defined access procedures and ethical approvals.","Children, adolescents, and adults aged 5 years and older are recruited through multicenter, international participation from specialized neurology and genetics clinics, patient registries, affected families, and the general community. The study includes individuals with ataxia, spastic ataxia, hereditary spastic paraplegia, or related phenotypes; presymptomatic mutation carriers; first- or second-degree relatives of affected individuals; and neurologically healthy community controls.",[70,73,76,79],{"label":71,"type":64,"description":72,"interventionNames":64},"Affected","Clinical diagnosis of neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP and alternative cause of phenotype excluded",{"label":74,"type":64,"description":75,"interventionNames":64},"Presymptomatic mutation carrier","Premanifest mutation carrier of (likely) pathogenic variant(s) in a disease gene associated with ataxia, spastic ataxia, HSP or related phenotype",{"label":77,"type":64,"description":78,"interventionNames":64},"Family control","1st or 2nd degree relative of a person with a clinical or genetic diagnosis of ataxia, spastic ataxia, HSP or related phenotype (group: Affected)",{"label":80,"type":64,"description":81,"interventionNames":64},"Community control","Healthy individual unrelated to a person with neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype",[83],{"name":84,"affiliation":85,"role":86},"Rebecca Schuele, Prof. Dr. med.","Heidelberg University Hospital and Heidelberg Faculty of Medicine","PRINCIPAL_INVESTIGATOR",[88],{"name":89,"role":90,"phone":91,"phoneExt":64,"email":92},"Perdita Beck, Study coordinator","CONTACT","+49 6221 56-38121","Perdita.Beck@med.uni-heidelberg.de",[94,116,144,164,181,202,220,248,267,283,297,308,328,343,359,377,397,413,431,449,472,498,522,544,567,581,602,619,642,659],{"facility":95,"status":96,"city":97,"state":64,"zip":98,"country":99,"countryCode":100,"cosmosGeoPoint":101,"geoPoint":106,"contacts":107},"Medical University Innsbruck, Department of Neurology","RECRUITING","Innsbruck","6020","Austria","AT",{"type":102,"coordinates":103},"Point",[104,105],11.39454,47.26266,{"lat":105,"lon":104},[108,112,113],{"name":109,"role":90,"phone":110,"phoneExt":64,"email":111},"Sylivia Boesch, MSc, Priv. Doz. Dr.","+43 512 504-83686","Sylvia.Boesch@i-med.ac.at",{"name":109,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":114,"role":115,"phone":64,"phoneExt":64,"email":64},"Matthias Amprosi, PhD, Dr.","SUB_INVESTIGATOR",{"facility":117,"status":96,"city":118,"state":64,"zip":119,"country":120,"countryCode":64,"cosmosGeoPoint":121,"geoPoint":125,"contacts":126},"Centre of Hereditary Ataxias, Department of Neurology and Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol and Homolka University Hospital","Prague","150 00","Czechia",{"type":102,"coordinates":122},[123,124],14.42076,50.08804,{"lat":124,"lon":123},[127,131,132,134,136,138,140,142],{"name":128,"role":90,"phone":129,"phoneExt":64,"email":130},"Jaroslava Paulasová Schwabova, M.D., Ph.D.","+420 224 431 111","jaroslava.schwabova@fnmotol.cz",{"name":128,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":133,"role":115,"phone":64,"phoneExt":64,"email":64},"Ludmilla Novotá, M.D.",{"name":135,"role":115,"phone":64,"phoneExt":64,"email":64},"Anna Uhrová Mészárosová, M.D.",{"name":137,"role":115,"phone":64,"phoneExt":64,"email":64},"Dana Šafka Brožková, M.D.",{"name":139,"role":115,"phone":64,"phoneExt":64,"email":64},"Emílie Vyhnálková, M.D.",{"name":141,"role":115,"phone":64,"phoneExt":64,"email":64},"Lukáš Martinkovič, M.D.",{"name":143,"role":115,"phone":64,"phoneExt":64,"email":64},"Martin Vyhnálek, M.D.",{"facility":145,"status":96,"city":146,"state":64,"zip":147,"country":148,"countryCode":149,"cosmosGeoPoint":150,"geoPoint":154,"contacts":155},"Paris Brain Institute ICM CRMR Neurogénétique, Hôpital de la Pitié-Salpêtrière Sorbonne Université UM75 Inserm U1127 CNRS UMR 7225 47 boulevard de l'Hôpital, CS21414","Paris","75646","France","FR",{"type":102,"coordinates":151},[152,153],2.3488,48.85341,{"lat":153,"lon":152},[156,160,162],{"name":157,"role":90,"phone":158,"phoneExt":64,"email":159},"Hortense Hurmic, Clinical research assistant","+33 (0)157274606","hortense.hurmic@icm-institute.org",{"name":161,"role":86,"phone":64,"phoneExt":64,"email":64},"Alexandra Dürr, Prof. Dr.",{"name":163,"role":115,"phone":64,"phoneExt":64,"email":64},"Giulia Coarelli, Dr.",{"facility":165,"status":96,"city":166,"state":64,"zip":167,"country":168,"countryCode":169,"cosmosGeoPoint":170,"geoPoint":174,"contacts":175},"Ruhr University Bochum, Institute for Neuroinformatics (INI)","Bochum","44801","Germany","DE",{"type":102,"coordinates":171},[172,173],7.21648,51.48165,{"lat":173,"lon":172},[176,180],{"name":177,"role":90,"phone":178,"phoneExt":64,"email":179},"Xenia Kobeleva, Prof. Dr.","+49 (0) 234 32-28967","research@xenia-kobeleva.com",{"name":177,"role":86,"phone":64,"phoneExt":64,"email":64},{"facility":182,"status":96,"city":183,"state":64,"zip":184,"country":168,"countryCode":169,"cosmosGeoPoint":185,"geoPoint":189,"contacts":190},"German Center for Neurodegenerative Diseases (DZNE) Bonn University Hospital Bonn Clinic for Parkinson's, sleep and movement disorders","Bonn","53127",{"type":102,"coordinates":186},[187,188],7.09549,50.73438,{"lat":188,"lon":187},[191,195,196,198,200],{"name":192,"role":90,"phone":193,"phoneExt":64,"email":194},"Jennifer Faber, PD Dr.","+49 (0)228 287-15736","Jennifer.Faber@dnze.de",{"name":192,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":197,"role":115,"phone":64,"phoneExt":64,"email":64},"Sarah Bernsen, Dr.",{"name":199,"role":115,"phone":64,"phoneExt":64,"email":64},"Okka Kimmich, Dr.",{"name":201,"role":115,"phone":64,"phoneExt":64,"email":64},"Dennis deConnick, Dr.",{"facility":203,"status":96,"city":204,"state":64,"zip":205,"country":168,"countryCode":169,"cosmosGeoPoint":206,"geoPoint":210,"contacts":211},"German Center for Neurodegenerative Diseases (DZNE) Dresden; University Hospital Carl Gustav Carus Clinic and Polyclinic for Neurology","Dresden","01307",{"type":102,"coordinates":207},[208,209],13.73832,51.05089,{"lat":209,"lon":208},[212,216,218],{"name":213,"role":90,"phone":214,"phoneExt":64,"email":215},"Falkenburger Björn, Prof. Dr.","+49 351 458-2532","bjoern.falkenburger@dzne.de",{"name":217,"role":86,"phone":64,"phoneExt":64,"email":64},"Björn Falkenburger, Prof. Dr.",{"name":219,"role":115,"phone":64,"phoneExt":64,"email":64},"Hanna-Sophie Lapp, Dr.",{"facility":221,"status":96,"city":222,"state":64,"zip":223,"country":168,"countryCode":169,"cosmosGeoPoint":224,"geoPoint":228,"contacts":229},"University Hospital Erlangen, Department of Neurology","Erlangen","91054",{"type":102,"coordinates":225},[226,227],11.00783,49.59099,{"lat":227,"lon":226},[230,234,236,238,240,242,244,246],{"name":231,"role":90,"phone":232,"phoneExt":64,"email":233},"Regensburger Martin, Prof. Dr.","+49 (0) 9131 85-39324","martin.regensburger@uk-erlangen.de",{"name":235,"role":86,"phone":64,"phoneExt":64,"email":64},"Martin Regensburger, Prof. Dr.",{"name":237,"role":86,"phone":64,"phoneExt":64,"email":64},"Jürgen Winkler, Prof. Dr.",{"name":239,"role":115,"phone":64,"phoneExt":64,"email":64},"Heiko Gaßner, Dr.",{"name":241,"role":115,"phone":64,"phoneExt":64,"email":64},"Beate Winner, Prof. Dr.",{"name":243,"role":115,"phone":64,"phoneExt":64,"email":64},"Jelena Jukic, Dr.",{"name":245,"role":115,"phone":64,"phoneExt":64,"email":64},"Patrick Süß, Dr.",{"name":247,"role":115,"phone":64,"phoneExt":64,"email":64},"Christina Matlok, Dr.",{"facility":249,"status":96,"city":250,"state":64,"zip":251,"country":168,"countryCode":169,"cosmosGeoPoint":252,"geoPoint":256,"contacts":257},"University Hospital Essen, Department of Pediatric Neurology \u002F Institute of Human Genetics","Essen","45147",{"type":102,"coordinates":253},[254,255],7.01228,51.45657,{"lat":255,"lon":254},[258,262,263,265],{"name":259,"role":90,"phone":260,"phoneExt":64,"email":261},"Bilge Albayrak, Dr.","49 (0) 201-723 2178","Bilge.Albayrak@uk-essen.de",{"name":259,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":264,"role":86,"phone":64,"phoneExt":64,"email":64},"Frederik Braun, Dr.",{"name":266,"role":115,"phone":64,"phoneExt":64,"email":64},"Ulrike Schara-Schmidt, Prof. Dr.",{"facility":268,"status":96,"city":269,"state":64,"zip":270,"country":168,"countryCode":169,"cosmosGeoPoint":271,"geoPoint":275,"contacts":276},"German Center for Neurodegenerative Diseases (DZNE) Göttingen","Göttingen","37075",{"type":102,"coordinates":272},[273,274],9.93228,51.53443,{"lat":274,"lon":273},[277,281],{"name":278,"role":90,"phone":279,"phoneExt":64,"email":280},"Lisa Reinecke, Study Coordination","+49 (0) 551-39 61166","sz-umg.neurologie@med.uni-goettingen.de",{"name":282,"role":86,"phone":64,"phoneExt":64,"email":64},"Christoph van Riesen, Dr. med",{"facility":284,"status":96,"city":269,"state":64,"zip":270,"country":168,"countryCode":169,"cosmosGeoPoint":285,"geoPoint":287,"contacts":288},"University Hospital Göttingen, Department of Neurology",{"type":102,"coordinates":286},[273,274],{"lat":274,"lon":273},[289,293,295],{"name":290,"role":90,"phone":291,"phoneExt":64,"email":292},"Sandrin Plewe, Study Coordination","+49 (0) 551-39 64162","sandrin.plewe@med.uni-goettingen.de",{"name":294,"role":86,"phone":64,"phoneExt":64,"email":64},"Michael Sereda, Prof. Dr.",{"name":296,"role":115,"phone":64,"phoneExt":64,"email":64},"Ahmad Beschad, Dr.",{"facility":298,"status":96,"city":269,"state":64,"zip":270,"country":168,"countryCode":169,"cosmosGeoPoint":299,"geoPoint":301,"contacts":302},"University Medical Centre Göttingen, Clinic for Paediatric and Adolescent Medicine",{"type":102,"coordinates":300},[273,274],{"lat":274,"lon":273},[303,307],{"name":304,"role":90,"phone":305,"phoneExt":64,"email":306},"Lara Marten, Dr.","+49 (0) 551-39 67019","lara.marten@med.uni-goettingen.de",{"name":304,"role":86,"phone":64,"phoneExt":64,"email":64},{"facility":309,"status":96,"city":310,"state":64,"zip":311,"country":168,"countryCode":169,"cosmosGeoPoint":312,"geoPoint":316,"contacts":317},"University Hospital Heidelberg, Department of Neurology","Heidelberg","69120",{"type":102,"coordinates":313},[314,315],8.69079,49.40768,{"lat":315,"lon":314},[318,321,322,324,326],{"name":319,"role":90,"phone":320,"phoneExt":64,"email":92},"Perdita Beck, Study Coordinator","+4962215638121",{"name":84,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":323,"role":115,"phone":64,"phoneExt":64,"email":64},"Hanna Boelting, Dr. med.",{"name":325,"role":115,"phone":64,"phoneExt":64,"email":64},"Mirlinda Ademi, Dr. med. univ., PhD",{"name":327,"role":115,"phone":64,"phoneExt":64,"email":64},"Vanessa Crncovic, Dr. med.",{"facility":329,"status":96,"city":310,"state":64,"zip":330,"country":168,"countryCode":169,"cosmosGeoPoint":331,"geoPoint":333,"contacts":334},"Heidelberg University Hospital, Center for Child and Adolescent Medicine","69124",{"type":102,"coordinates":332},[314,315],{"lat":315,"lon":314},[335,339,341],{"name":336,"role":90,"phone":337,"phoneExt":64,"email":338},"Stefan Kölker, Prof. Dr.","+49 (0) 6221-56 4002","stefan.koelker@med.uni-heidelberg.de",{"name":340,"role":86,"phone":64,"phoneExt":64,"email":64},"Afshin Saffari, Dr.",{"name":342,"role":115,"phone":64,"phoneExt":64,"email":64},"Birgit Assmann, PD Dr.",{"facility":344,"status":96,"city":345,"state":64,"zip":346,"country":168,"countryCode":169,"cosmosGeoPoint":347,"geoPoint":351,"contacts":352},"University Hospital Schleswig-Holstein , Department of Neurology","Kiel","24105",{"type":102,"coordinates":348},[349,350],10.13489,54.32133,{"lat":350,"lon":349},[353,357],{"name":354,"role":90,"phone":355,"phoneExt":64,"email":356},"Beate Lengl-Janssen, Dr. rer. nat.","+49 (0) 431 500-24011","lotsinzsne.kiel@uksh.de",{"name":358,"role":86,"phone":64,"phoneExt":64,"email":64},"Tim W. Rattay, PD. 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Neurology Department",{"type":102,"coordinates":645},[627,628],{"lat":628,"lon":627},[648,652,653,655,657],{"name":649,"role":90,"phone":650,"phoneExt":64,"email":651},"Alfons Macaya, Prof. Dr.","+34 (0) 93 489 31 56","alfons.macaya@vallhebron.cat",{"name":649,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":654,"role":86,"phone":64,"phoneExt":64,"email":64},"Maria Victoria González Martinez, Dr.",{"name":656,"role":115,"phone":64,"phoneExt":64,"email":64},"Paula Arranz-Horno, Dr.",{"name":658,"role":115,"phone":64,"phoneExt":64,"email":64},"Natalia Espandin-Hüter, Dr.",{"facility":660,"status":96,"city":661,"state":64,"zip":662,"country":623,"countryCode":624,"cosmosGeoPoint":663,"geoPoint":667,"contacts":668},"University Hospital Marqués de Valdecilla-IDIVAL, Department of Neurology","Santander","39008",{"type":102,"coordinates":664},[665,666],-3.80493,43.46589,{"lat":666,"lon":665},[669,673,674,676],{"name":670,"role":90,"phone":671,"phoneExt":64,"email":672},"Jon Infante, MD, PhD","+34 (0) 616416622","jon.infante@scsalud.es",{"name":670,"role":86,"phone":64,"phoneExt":64,"email":64},{"name":675,"role":115,"phone":64,"phoneExt":64,"email":64},"Leire Manrique, Dr.",{"name":677,"role":115,"phone":64,"phoneExt":64,"email":64},"Raquel Martinez, Dr.",{"type":86,"investigatorFullName":679,"investigatorTitle":680,"investigatorAffiliation":681,"oldNameTitle":64,"oldOrganization":64},"Rebecca Schuele","Director, Division of Neurodegenerative Diseases | Department of Neurology","University Hospital Heidelberg",[683,686,689,691,694],{"name":684,"class":685},"Bundesministerium für Forschung, Technologie und Raumfahrt (BMFTR)","UNKNOWN",{"name":687,"class":688},"National Institute of Neurological Disorders and Stroke (NINDS)","NIH",{"name":690,"class":685},"European Reference Network for Rare Neurological Diseases (ERN-RND)",{"name":692,"class":693},"Horizon Europe","INDUSTRY",{"name":681,"class":6},"100654219","treathsp-platform-adaptive-natural-history-platform-for-ataxias-hsps-and-spastic-ataxias-100654219",false,"NCT07798674","TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias","TreatHSP\u002FSPAX Master Protocol: Adaptive Platform for Longitudinal Progression, Biomarkers and Pathophysiology in Ataxias, Hereditary Spastic Paraplegias and Spastic Ataxias (TreatHSP\u002FSPAX)","TreatHSP","Inclusion Criteria:\n\nGeneral inclusion criteria:\n\n\\- Age 5 or older\n\nCohort 1: Affected\n\n* Clinical diagnosis of neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype AND\n* Alternative causes of phenotype excluded\n\nCohort 2: Presymptomatic mutation carriers\n\n\\- Premanifest mutation carrier of (likely) pathogenic variant(s) in a disease gene associated with ataxia, spastic ataxia, HSP or related phenotype\n\nCohort 3: Family controls - 1st or 2nd degree relative of a person with a clinical or genetic diagnosis of ataxia, spastic ataxia, HSP or related phenotype\n\nCohort 4: Community controls\n\n\\- Healthy individual unrelated to a person with neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype\n\nExclusion Criteria:\n\n* Presence of an alternative neurological or systemic condition that sufficiently explains the phenotype and is incompatible with ataxia, spastic ataxia, hereditary spastic paraplegia, or a related disorder.\n* Severe comorbidity or unstable medical condition that substantially interferes with study participation or interpretation of neurological and functional assessments.\n* Inability to comply with study procedures or follow-up requirements.\n* Lack of informed consent, including absence of consent by a legally authorized representative where required.\n* Current participation in an interventional clinical trial that may interfere with the objectives or outcome assessments of this observational study.",true,"ALL","5 Years",{"count":707,"type":708},4000,"ESTIMATED","10 Years","OBSERVATIONAL","Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily activities. Although many SPAX diseases are caused by specific genetic changes, there is still limited knowledge about how symptoms develop over time, how fast the diseases progress, and which clinical or biological measures best reflect meaningful changes for patients.\n\nThe TreatHSP Master Protocol establishes an adaptive natural history study platform designed to improve the understanding of SPAX diseases across all ages and disease stages. Within this platform, the TreatHSP\u002FSPAX study serves as the core natural history study, providing a shared framework for long-term clinical follow-up, standardized outcome assessments, and biosample collection.\n\nParticipants enrolled in TreatHSP\u002FSPAX are followed over time to document disease progression using clinical examinations, patient- and caregiver-reported outcomes, digital movement measures, imaging, and biological samples. In addition to this core dataset, the TreatHSP Platform allows optional, disease- or hypothesis-specific substudies to be added over time in selected participant groups. These additional assessments are introduced under the same master protocol, without creating separate stand-alone studies.\n\nThe overall goal of the TreatHSP Master Protocol is to generate high-quality natural history data, identify sensitive and patient-relevant outcome measures, and support the development of future therapies for ataxias, hereditary spastic paraplegias, and spastic ataxias.",[713,714],"Hereditary Spastic Paraplegia","Spastic Ataxia",[713,716,717,718,719,720,721,722,723,724,725,726,727],"Ataxias, Hereditary","Spastic ataxia","Natural History Study","Patient Registry","Longitudinal Cohort Study","Platform Study","Adaptive Study Design","Disease Progression","Clinical Outcome Assessment","Biomarkers","Trial Readiness","Real-World Data","2026-08-28",{"date":730,"type":731},"2026-09-01","ACTUAL",{"date":733,"type":731},"2024-07-16",{"date":735,"type":708},"2035-12-31",{"name":5,"class":6},30]