Understanding Hereditary Spastic Paraplegias and Related Disorders

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

This observational study aims to explore the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders through a multicenter natural history approach. Participants will undergo annual standardized clinical examinations and have the option to donate biosamples for biomarker analysis. The study will also investigate genetic etiology and molecular mechanisms, utilizing next-generation sequencing for those without a genetic diagnosis. Data will be collected in a clinical database to aid in diagnosis and therapy development.

Why it matters

Who can join: the full rules

Inclusion criteria:

* One of the following:

  1. Primary participant: Clinical or genetic diagnosis of HSP or a related disorder
  2. 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
  3. 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

Where it's running

• University Innsbruck
  Innsbruck, Austria Recruiting
• German Center for Neurodegenerative Diseases (DZNE) Bonn
  Bonn, Germany Recruiting
• University of Erlangen
  Erlangen, Germany Recruiting
• University Medicine Essen
  Essen, Germany Recruiting
• University Göttingen
  Göttingen, Germany Recruiting
• German Center for Neurogedenerative Diseases (DZNE) Magdeburg
  Magdeburg, Germany Recruiting

Study contacts

• Principal investigator: Rebecca Schüle, PD Dr. — University Hospital Tuebingen
• Study coordinator: Rebecca Schüle, PD Dr.
• Email: rebecca.schuele-freyer@uni-tuebingen.de
• Phone: +49 7071 29

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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

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• Noninvasive spinal stimulation to improve walking in hereditary spastic paraplegia

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• Evaluating surgical treatment for foot deformities in hereditary spastic paraplegia

  This study is testing how well surgery can help people with hereditary spastic paraplegia and foot deformities feel and function better over two years.

  Recruiting Shanghai 6th People's Hospital · Shanghai, Shanghai Municipality · NCT06936163

• Exploring intrathecal baclofen treatment for hereditary spastic paraplegia

  This study is testing if a special pump that delivers baclofen directly into the spine can help people with hereditary spastic paraplegia improve their movement and quality of life better than taking the medication by mouth.

  Recruiting Shanghai 6th People's Hospital · Shanghai, Shanghai Municipality · NCT06844734

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.