TreatHSP/SPAX: An adaptive natural history platform for SPAX diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

TreatHSP is an adaptive, observational platform designed to follow people with SPAX diseases over time to map disease progression across ages and genetic backgrounds. The core TreatHSP/SPAX study enrolls all participants into standardized assessments while allowing disease-specific investigations within the same framework. Goals include characterizing longitudinal clinical courses, validating meaningful outcome measures, and building a harmonized data and biosample resource to support future trials. The platform adopts an adaptive design similar to interventional platforms but focused on natural history and biomarker discovery. Data and biosamples are collected to support regulatory-readiness and secondary research across diverse SPAX conditions.

Why it matters

Who can join: the full rules

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.

Where it's running

• Medical University Innsbruck, Department of Neurology
  Innsbruck, Austria Recruiting
• 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 Recruiting
• 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 Recruiting
• Ruhr University Bochum, Institute for Neuroinformatics (INI)
  Bochum, Germany Recruiting
• German Center for Neurodegenerative Diseases (DZNE) Bonn University Hospital Bonn Clinic for Parkinson's, sleep and movement disorders
  Bonn, Germany Recruiting
• German Center for Neurodegenerative Diseases (DZNE) Dresden; University Hospital Carl Gustav Carus Clinic and Polyclinic for Neurology
  Dresden, Germany Recruiting

Study contacts

• Principal investigator: Rebecca Schuele, Prof. Dr. med. — Heidelberg University Hospital and Heidelberg Faculty of Medicine
• Study coordinator: Perdita Beck, Study coordinator
• Email: Perdita.Beck@med.uni-heidelberg.de
• Phone: +49 6221 56-38121

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.