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

2026년 8월 28일 업데이트: 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.

연구 개요

상태

모병

정황

상세 설명

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.

연구 유형

관찰

등록 (추정된)

4000

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 연락처

연구 장소

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

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

  • 어린이
  • 성인
  • 고령자

건강한 자원 봉사자를 받아들입니다

예

샘플링 방법

비확률 샘플

연구 인구

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.

설명

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.

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

코호트 및 개입

그룹/코호트
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

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
측정값 설명
기간
Modified Spastic Paraplegia Rating Scale
기간: 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)
기간: 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)
기간: 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

2차 결과 측정

결과 측정
측정값 설명
기간
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL)
기간: 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)
기간: 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
기간: 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)
기간: 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)
기간: 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

기타 결과 측정

결과 측정
측정값 설명
기간
FARS Functional Staging
기간: 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
기간: 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)
기간: 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)
기간: 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)
기간: 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)
기간: 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
기간: 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
기간: 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
기간: 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

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

Heidelberg University

협력자

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)

수사관

  • 수석 연구원: Rebecca Schuele, Prof. Dr. med., Heidelberg University Hospital and Heidelberg Faculty of Medicine

간행물 및 유용한 링크

연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.

유용한 링크

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (실제)

2024년 7월 16일

기본 완료 (추정된)

2035년 12월 31일

연구 완료 (추정된)

2035년 12월 31일

연구 등록 날짜

최초 제출

2025년 12월 30일

QC 기준을 충족하는 최초 제출

2026년 8월 28일

처음 게시됨 (실제)

2026년 9월 1일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 9월 1일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 8월 28일

마지막으로 확인됨

2026년 8월 1일

추가 정보

이 연구와 관련된 용어

키워드

추가 관련 MeSH 약관

기타 연구 ID 번호

  • S-317/2024 TreatHSP
  • 2R01NS072248 (미국 NIH 보조금/계약)
  • TreatHSP Registry (레지스트리 식별자: TreatHSP Registry)

개별 참가자 데이터(IPD) 계획

개별 참가자 데이터(IPD)를 공유할 계획입니까?

예

IPD 계획 설명

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 공유 기간

Beginning January 2026 with no end date.

IPD 공유 액세스 기준

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 공유 지원 정보 유형

  • 연구_프로토콜

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

아니

미국 FDA 규제 기기 제품 연구

아니

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

구독하다