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Recruiting NCT03981276

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders

— Observational Hereditary Spastic Paraplegia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS).
Who it may be relevant to
Registry conditions: Hereditary Spastic Paraplegia. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Austria, Germany, Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.

Detailed description

The investigators will perform a registry-based standardized prospective Natural History Study (NHS) in HSPs and related disorders. Participants will be seen annually. At study visits a standardized clinical examination will be performed including application of clinical rating scales (selection of rating scales may vary depending on the individual phenotype and specific genotype); data will be entered into a clinical database (HSP Registry; https://www.hsp-registry.net). At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.

Optionally, additional examinations may be performed including imaging, quantitative movement analysis, neuropsychological examinations, analysis of patient or observer reported outcomes and OMICS analysis to characterize molecular biomarkers.

In participants without a genetic diagnosis, next generation sequencing may be performed.

Interventions

  • Other Clinical rating scale to measure disease severity and progression
    A 13-item scale to rate functional impairment occurring in pure forms of spastic paraplegia (SP). Additional symptoms constituting a complicated form of SP are recorded in an inventory.
  • Diagnostic test Next-Gen Sequencing (NGS)
    Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics

Primary outcome measures

  • Change from baseline of Spastic Paraplegia Rating Scale (SPRS) total score at 2 years [Time frame: up to 2 years]

Eligibility criteria

Inclusion criteria

  • One of the following:
  • Primary participant: Clinical or genetic diagnosis of HSP or a related disorder
  • Secondary participant: Unaffected family member (1st or 2nd degree relative) of primary participant (with the above-mentioned restrictions for special populations) able to give informed consent
  • Unrelated healthy control able to give informed consent

AND

  • Written informed consent

AND

\- Participants are willing and able to comply with study procedures

Exclusion criteria

  • Missing informed consent of primary or secondary participant/ healthy control/ legal representatives
  • For controls: evidence of a neurodegenerative disease or movement disorders; inability to give informed consent

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

Germany · 11 centers
  • German Center for Neurodegenerative Diseases (DZNE) Bonn — Bonn
  • University of Erlangen — Erlangen
  • University Medicine Essen — Essen
  • University Göttingen — Göttingen
  • University Heidelberg — Heidelberg
  • University of Lübeck — Lübeck
  • German Center for Neurogedenerative Diseases (DZNE) Magdeburg — Magdeburg
  • German Center for Neurodegenerative Diseases (DZNE) München — München
  • … and 3 more centers
Austria · 1 center
  • University Innsbruck — Innsbruck
Italy · 1 center
  • IRCCS Medea Scientific Institute, Conegliano-PIeve di Soligo Research Centre — Pieve di Soligo

Identifiers

NCT: NCT03981276 · HSP-PBP · 01GM1905

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗