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TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias (TreatHSP)

2026年8月28日 更新者：Rebecca Schuele、Heidelberg University

TreatHSP/SPAX Master Protocol: Adaptive Platform for Longitudinal Progression, Biomarkers and Pathophysiology in Ataxias, Hereditary Spastic Paraplegias and Spastic Ataxias (TreatHSP/SPAX)

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.

The 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/SPAX study serves as the core natural history study, providing a shared framework for long-term clinical follow-up, standardized outcome assessments, and biosample collection.

Participants enrolled in TreatHSP/SPAX 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.

The 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.

研究概览

地位

招聘中

条件

详细说明

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.

Within the TreatHSP platform, TreatHSP/SPAX represents the core natural history study. All participants are enrolled into TreatHSP/SPAX 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.

The primary objectives of the TreatHSP platform are to:

Characterize the longitudinal clinical course of SPAX diseases across genotypes, ages, and disease stages.

Identify, 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.

Establish a harmonized data and biosample resource to support clinical trial readiness and secondary research.

Adaptive 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.

The TreatHSP/SPAX core natural history study defines:

Core eligibility principles Mandatory clinical, functional, and patient-reported assessments Standardized biosample collection Common data elements and anchor outcome measures

Within 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.

This adaptive design enables parallel investigation of multiple disease subgroups and research questions under a single, continuously evolving protocol.

Study Population:

The platform includes:

Individuals of all ages with a clinical or genetic diagnosis of an ataxia, hereditary spastic paraplegia, or spastic ataxia, including presymptomatic mutation carriers.

Selected affected or unaffected family members. Healthy unrelated control participants for selected analyses.

Registry Procedures and Quality Assurance:

The TreatHSP/SPAX core study functions as a structured patient registry within the TreatHSP Platform and follows predefined quality standards.

Data Collection and Validation:

Data 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.

Source Data Verification:

Data 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.

Data Dictionary:

A 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.

Standard Operating Procedures:

Standard 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.

Monitoring and Auditing:

Central data monitoring and periodic site-level reviews are conducted to ensure data quality, protocol adherence, and compliance with ethical and regulatory requirements.

Sample Size and Statistical Considerations:

Due 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.

Handling of Missing Data:

Missing data are explicitly documented and categorized. Statistical analyses account for missing data using appropriate longitudinal methods and sensitivity analyses, depending on the research question.

Data Protection and Governance:

All 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.

研究类型

观察性的

注册 (估计的)

4000

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

学习地点

  • 奥地利
      • Innsbruck、奥地利、6020
        • 招聘中
        • Medical University Innsbruck, Department of Neurology
        • 接触：
        • 首席研究员：
          • Sylivia Boesch, MSc, Priv. Doz. Dr.
        • 副研究员：
          • Matthias Amprosi, PhD, Dr.
  • 德国
      • Bochum、德国、44801
        • 招聘中
        • Ruhr University Bochum, Institute for Neuroinformatics (INI)
        • 接触：
        • 首席研究员：
          • Xenia Kobeleva, Prof. Dr.
      • Bonn、德国、53127
        • 招聘中
        • German Center for Neurodegenerative Diseases (DZNE) Bonn University Hospital Bonn Clinic for Parkinson's, sleep and movement disorders
        • 接触：
        • 首席研究员：
          • Jennifer Faber, PD Dr.
        • 副研究员：
          • Sarah Bernsen, Dr.
        • 副研究员：
          • Okka Kimmich, Dr.
        • 副研究员：
          • Dennis deConnick, Dr.
      • Dresden、德国、01307
        • 招聘中
        • German Center for Neurodegenerative Diseases (DZNE) Dresden; University Hospital Carl Gustav Carus Clinic and Polyclinic for Neurology
        • 接触：
        • 首席研究员：
          • Björn Falkenburger, Prof. Dr.
        • 副研究员：
          • Hanna-Sophie Lapp, Dr.
      • Erlangen、德国、91054
        • 招聘中
        • University Hospital Erlangen, Department of Neurology
        • 接触：
        • 首席研究员：
          • Martin Regensburger, Prof. Dr.
        • 首席研究员：
          • Jürgen Winkler, Prof. Dr.
        • 副研究员：
          • Heiko Gaßner, Dr.
        • 副研究员：
          • Beate Winner, Prof. Dr.
        • 副研究员：
          • Jelena Jukic, Dr.
        • 副研究员：
          • Patrick Süß, Dr.
        • 副研究员：
          • Christina Matlok, Dr.
      • Essen、德国、45147
        • 招聘中
        • University Hospital Essen, Department of Pediatric Neurology / Institute of Human Genetics
        • 接触：
        • 首席研究员：
          • Bilge Albayrak, Dr.
        • 首席研究员：
          • Frederik Braun, Dr.
        • 副研究员：
          • Ulrike Schara-Schmidt, Prof. Dr.
      • Göttingen、德国、37075
        • 招聘中
        • German Center for Neurodegenerative Diseases (DZNE) Göttingen
        • 接触：
        • 首席研究员：
          • Christoph van Riesen, Dr. med
      • Göttingen、德国、37075
        • 招聘中
        • University Hospital Göttingen, Department of Neurology
        • 接触：
        • 首席研究员：
          • Michael Sereda, Prof. Dr.
        • 副研究员：
          • Ahmad Beschad, Dr.
      • Göttingen、德国、37075
        • 招聘中
        • University Medical Centre Göttingen, Clinic for Paediatric and Adolescent Medicine
        • 接触：
        • 首席研究员：
          • Lara Marten, Dr.
      • Heidelberg、德国、69120
        • 招聘中
        • University Hospital Heidelberg, Department of Neurology
        • 接触：
        • 首席研究员：
          • Rebecca Schuele, Prof. Dr. med.
        • 副研究员：
          • Hanna Boelting, Dr. med.
        • 副研究员：
          • Mirlinda Ademi, Dr. med. univ., PhD
        • 副研究员：
          • Vanessa Crncovic, Dr. med.
      • Heidelberg、德国、69124
        • 招聘中
        • Heidelberg University Hospital, Center for Child and Adolescent Medicine
        • 接触：
        • 首席研究员：
          • Afshin Saffari, Dr.
        • 副研究员：
          • Birgit Assmann, PD Dr.
      • Kiel、德国、24105
        • 招聘中
        • University Hospital Schleswig-Holstein , Department of Neurology
        • 接触：
        • 首席研究员：
          • Tim W. Rattay, PD. Dr. med.
      • Magdeburg、德国、39120
        • 招聘中
        • German Center for Neurodegenerative Diseases (DZNE) Magdeburg, University Hospital Magdeburg, Department of Neurology
        • 接触：
        • 首席研究员：
          • Michaela Butryn, Dr.
        • 副研究员：
          • Wenzel Glanz, Dr.
      • München、德国、80336
        • 招聘中
        • German Center for Neurodegenerative Diseases (DZNE) Munich, Munich University Hospital LMU, Department of Neurology
        • 首席研究员：
          • Thomas Klopstock, Prof. Dr.
        • 接触：
        • 副研究员：
          • Leopold Zeng, Dr.
        • 副研究员：
          • Almut Bischoff, Dr.
      • Recklinghausen、德国、45657
        • 招聘中
        • Klinikum Vest GmbH, Treatment Center Knappschafts Hospital Recklinghausen, NeuroCentrum - Department of Neurology, Stroke Unit and Early Rehabilitation
        • 首席研究员：
          • Stephan Klebe, Prof. Dr.
        • 接触：
      • Tübingen、德国、72076
        • 招聘中
        • University Hospital and Faculty of Medicine Tübingen, Clinic for Paediatrics and Adolescent Medicine
        • 接触：
        • 首席研究员：
          • Hendrik Rosenwich, Prof. Dr.
        • 副研究员：
          • Marion Doebler-Neumann, Dr.
      • Tübingen、德国、72076
        • 招聘中
        • University Hospital and Faculty of Medicine Tübingen, Neurology with a Focus on Neurodegenerative Diseases
        • 首席研究员：
          • Ludger Schöls, Prof. Dr.
        • 接触：
        • 副研究员：
          • Lena Zelter, Dr.
        • 副研究员：
          • Zofia Fleszar, Dr.
        • 副研究员：
          • Johanna Roller, Dr.
  • 意大利
      • Pisa、意大利、56126
        • 招聘中
        • University of Pisa, Azienda Ospedaliero Universitaria Pisana, Neurology
        • 接触：
        • 首席研究员：
          • Michelangelo Mancuso, Prof. Dr.
        • 副研究员：
          • Adriana Meli, Dr.
        • 副研究员：
          • Clara Bernardini, Dr.
        • 副研究员：
          • Vicenzo Montano, Dr.
        • 副研究员：
          • Piervito Lopriore, Dr.
      • Roma、意大利、00146
        • 招聘中
        • IRCCS Istituto Ospedale Pediatrico Bambino Gesù, Translational Pediatrics and Clinical Genetics
        • 接触：
        • 首席研究员：
          • Enrico S Bertini, Prof. Dr.
        • 副研究员：
          • Francesco Nicita, Dr.
        • 副研究员：
          • Jacopo Sartorelli, Dr.
        • 副研究员：
          • Gessica Vasco, Dr.
        • 副研究员：
          • Andrea Sancesario, Dr.
      • Roma、意大利、00168
        • 招聘中
        • Università Cattolica del Sacro Cuore, Department of Neuroscience
        • 接触：
        • 首席研究员：
          • Gabriella Silvestri, Prof. Dr.
        • 副研究员：
          • Salvatore Rossi, Dr.
    • Pisa
      • Calambrone、Pisa、意大利、56018
        • 招聘中
        • IRCCS Fondazione Stella Maris, MEDMOL - Molecular Medicine, Neurogenetics and Neuromuscular Diseases
        • 副研究员：
          • Sara Satolli, MD
        • 接触：
        • 首席研究员：
          • Filippo Santorelli, Prof. Dr.
        • 副研究员：
          • Ilaria D Donato, MD
        • 副研究员：
          • Gianmarco Dalla Zanna, MD
        • 副研究员：
          • Nunzio Setola, MD
    • TV
      • Conegliano、TV、意大利、31015
        • 招聘中
        • Associazione La Nostra Famiglia - IRCCS Eugenio Medea
        • 接触：
        • 首席研究员：
          • Andrea Martinuzzi, Prof. Dr.
        • 副研究员：
          • Elena Carrero, Dr.
        • 副研究员：
          • Leonardo Boccuni, Dr.
        • 副研究员：
          • Francesca Oppia, Dr.
        • 副研究员：
          • Gabriella Paparella, Dr.
  • 捷克语
      • Prague、捷克语、150 00
        • 招聘中
        • Centre of Hereditary Ataxias, Department of Neurology and Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol and Homolka University Hospital
        • 接触：
        • 首席研究员：
          • Jaroslava Paulasová Schwabova, M.D., Ph.D.
        • 副研究员：
          • Ludmilla Novotá, M.D.
        • 副研究员：
          • Anna Uhrová Mészárosová, M.D.
        • 副研究员：
          • Dana Šafka Brožková, M.D.
        • 副研究员：
          • Emílie Vyhnálková, M.D.
        • 副研究员：
          • Lukáš Martinkovič, M.D.
        • 副研究员：
          • Martin Vyhnálek, M.D.
  • 法国
      • Paris、法国、75646
        • 招聘中
        • 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
        • 接触：
        • 首席研究员：
          • Alexandra Dürr, Prof. Dr.
        • 副研究员：
          • Giulia Coarelli, Dr.
  • 波兰
      • Krakow、波兰、30-688
        • 招聘中
        • University Hospital in Kraków, Neurology Clinical Department
        • 接触：
          • Joanna Pera, Prof. Dr.
          • 电话号码：+48 (0) 12 424 86 15
          • 邮箱：pera@su.krakow.pl
        • 首席研究员：
          • Joanna Pera, Prof. Dr.
  • 爱尔兰
      • Dublin、爱尔兰、Dublin 24
        • 招聘中
        • Tallaght University Hospital, Neurology
        • 接触：
        • 首席研究员：
          • Sinead Murphy, MD, Prof.
        • 首席研究员：
          • Petya Bogdanova-Mihaylova, Dr.
        • 首席研究员：
          • Richard Walsh, Dr.
        • 副研究员：
          • Eva Tallon, Dr.
  • 荷兰
      • Nijmegen、荷兰、6525 GA
        • 招聘中
        • Radboud university medical center - Radboundumc, University Medical Center
        • 接触：
        • 首席研究员：
          • Bart van de Warrenburg, Prof. Dr.
        • 副研究员：
          • Jorik Nonnekes, Dr.
        • 副研究员：
          • Lotte van de Venis, Dr.
  • 西班牙
      • Barcelona、西班牙、08950
        • 招聘中
        • Hospital Sant Joan de Déu Barcelona, Neuromuscular Diseases Unit
        • 接触：
        • 首席研究员：
          • Laura Carrera Garcia, Dr.
        • 副研究员：
          • Carlos I Ortez González, Dr.
        • 副研究员：
          • Alejandra Darling, Dr.
        • 副研究员：
          • Julita Medina, Dr.
      • Barcelona、西班牙
        • 招聘中
        • Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron University Hospital - Neurology Department
        • 接触：
        • 首席研究员：
          • Alfons Macaya, Prof. Dr.
        • 首席研究员：
          • Maria Victoria González Martinez, Dr.
        • 副研究员：
          • Paula Arranz-Horno, Dr.
        • 副研究员：
          • Natalia Espandin-Hüter, Dr.
      • Santander、西班牙、39008
        • 招聘中
        • University Hospital Marqués de Valdecilla-IDIVAL, Department of Neurology
        • 接触：
        • 首席研究员：
          • Jon Infante, MD, PhD
        • 副研究员：
          • Leire Manrique, Dr.
        • 副研究员：
          • Raquel Martinez, Dr.

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 孩子
  • 成人
  • 年长者

接受健康志愿者

是的

取样方法

非概率样本

研究人群

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.

描述

Inclusion Criteria:

General inclusion criteria:

- Age 5 or older

Cohort 1: Affected

  • Clinical diagnosis of neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype AND
  • Alternative causes of phenotype excluded

Cohort 2: Presymptomatic mutation carriers

- Premanifest mutation carrier of (likely) pathogenic variant(s) in a disease gene associated with ataxia, spastic ataxia, HSP or related phenotype

Cohort 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

Cohort 4: Community controls

- Healthy individual unrelated to a person with neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype

Exclusion Criteria:

  • 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.
  • Severe comorbidity or unstable medical condition that substantially interferes with study participation or interpretation of neurological and functional assessments.
  • Inability to comply with study procedures or follow-up requirements.
  • Lack of informed consent, including absence of consent by a legally authorized representative where required.
  • Current participation in an interventional clinical trial that may interfere with the objectives or outcome assessments of this observational study.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

队列和干预

团体/队列
Affected
Clinical diagnosis of neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP and alternative cause of phenotype excluded
Presymptomatic mutation carrier
Premanifest mutation carrier of (likely) pathogenic variant(s) in a disease gene associated with ataxia, spastic ataxia, HSP or related phenotype
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)
Community control
Healthy individual unrelated to a person with neurodevelopmental or neurodegenerative ataxia, spastic ataxia, HSP or related phenotype

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Modified Spastic Paraplegia Rating Scale
大体时间：Through study completion, an average of 5 years, measured annually

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.

The 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
Scale for the Assessment and Rating of Ataxia (SARA)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
SPAX Composite Scale (SPAXCOM)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually

次要结果测量

结果测量
措施说明
大体时间
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Inventory of Non-Ataxia Signs - PLUS (INAS-PLUS)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
MRC Sum Score for Muscle Strength
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
TreatHSP Quality of Life (TreatHSP-QoL)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually

其他结果措施

结果测量
措施说明
大体时间
FARS Functional Staging
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
SPATAX Disability Stage
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Clinical Global and Domain-Specific Impression of Severity and Change (CGI-S/CGI-C)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Patient-reported Global and Domain-Specific Impression of Severity and Change (PGI-S / PGI-C)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Functional Mobility Scale (FMS)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
The Gross Motor Function Classification - MLD (GMFC-MLD)
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
TreatHSP Mobility Questionnaire
大体时间：Through study completion, an average of 5 years, measured annually
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.
Through study completion, an average of 5 years, measured annually
Achievement of developmental milestones
大体时间：Through study completion, an average of 5 years, measured annually
Achievement of key developmental motor milestones (unsupported sitting, unsupported standing, assisted walking, unsupported walking) will be assessed via caregiver/patient report. For each milestone, achievement status will be recorded as yes/no/unknown. 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.
Through study completion, an average of 5 years, measured annually
Milestone regression
大体时间：Through study completion, an average of 5 years, measured annually
Loss of previously achieved motor function will be assessed via caregiver/patient 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/no/unknown, with the calendar year of onset documented where applicable.
Through study completion, an average of 5 years, measured annually

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Heidelberg University

合作者

National Institute of Neurological Disorders and Stroke (NINDS)
University Hospital Heidelberg
Horizon Europe
Bundesministerium für Forschung, Technologie und Raumfahrt (BMFTR)
European Reference Network for Rare Neurological Diseases (ERN-RND)

调查人员

  • 首席研究员：Rebecca Schuele, Prof. Dr. med.、Heidelberg University Hospital and Heidelberg Faculty of Medicine

出版物和有用的链接

负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。

有用的网址

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2024年7月16日

初级完成 (估计的)

2035年12月31日

研究完成 (估计的)

2035年12月31日

研究注册日期

首次提交

2025年12月30日

首先提交符合 QC 标准的

2026年8月28日

首次发布 (实际的)

2026年9月1日

研究记录更新

最后更新发布 (实际的)

2026年9月1日

上次提交的符合 QC 标准的更新

2026年8月28日

最后验证

2026年8月1日

更多信息

与本研究相关的术语

关键字

其他相关的 MeSH 术语

其他研究编号

  • S-317/2024 TreatHSP
  • 2R01NS072248 (美国 NIH 拨款/合同)
  • TreatHSP Registry (注册表标识符：TreatHSP Registry)

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

是的

IPD 计划说明

De-identified individual participant data collected within the TreatHSP Master Protocol may be shared for secondary research purposes. Data eligible for sharing include selected clinical, functional, patient-reported, digital, imaging, and biomarker data generated within the TreatHSP/SPAX core study and approved adaptive substudies. Data sharing is subject to approval through the TreatHSP governance framework and requires submission of a scientific proposal, review by the Steering Committee, and execution of a data use agreement. Only pseudonymized data will be shared, and access will be limited to the minimum dataset necessary to address the approved research question. Data sharing will occur in compliance with applicable data protection regulations and participant consent.

IPD 共享时间框架

Beginning January 2026 with no end date.

IPD 共享访问标准

Access requests must be submitted as a research proposal describing the planned analyses and required data elements. Requests are reviewed by the TreatHSP Steering Committee or a delegated data access body based on scientific merit, feasibility, and compliance with ethical and data protection requirements. Approved requests require a data use agreement, and access is limited to the minimum dataset necessary for the approved analyses.

IPD 共享支持信息类型

  • 研究方案

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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