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

Summary

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.

Conditions

• Hereditary Spastic Paraplegia
• Spastic Ataxia

Sponsors & Collaborators

• Bundesministerium für Forschung, Technologie und Raumfahrt (BMFTR)

  collaborator UNKNOWN

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• European Reference Network for Rare Neurological Diseases (ERN-RND)

  collaborator UNKNOWN

• Horizon Europe

  collaborator INDUSTRY

• University Hospital Heidelberg

  collaborator OTHER

• Heidelberg University

  lead OTHER

Principal Investigators

• Rebecca Schuele, Prof. Dr. med. · Heidelberg University Hospital and Heidelberg Faculty of Medicine

Eligibility

Min Age

5 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2024-07-16

Primary Completion

2035-12-31

Completion

2035-12-31

Countries

• Austria
• Czechia
• France
• Germany
• Ireland
• Italy
• Netherlands
• Poland
• Spain

Study Locations