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

Recruitingn/aAges 5 Years - anyAllHeidelberg University
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In plain words

What the trial is, and whether it could suit you

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 enrol

Sign in to get the eligibility rules as simple questions to take to your doctor.

📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

30 sites
Medical University Innsbruck, Department of Neurology
Innsbruck, Austria
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, Czechia
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, France
Ruhr University Bochum, Institute for Neuroinformatics (INI)
Bochum, Germany
German Center for Neurodegenerative Diseases (DZNE) Bonn University Hospital Bonn Clinic for Parkinson's, sleep and movement disorders
Bonn, Germany
German Center for Neurodegenerative Diseases (DZNE) Dresden; University Hospital Carl Gustav Carus Clinic and Polyclinic for Neurology
Dresden, Germany
University Hospital Erlangen, Department of Neurology
Erlangen, Germany
University Hospital Essen, Department of Pediatric Neurology / Institute of Human Genetics
Essen, Germany

…and 22 more on ClinicalTrials.gov.

🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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