ClinicalTrials.gov record NCT03981276

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on May 19, 2021, about 5 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
SexAll
LocationAustria, Germany, Italy
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A prospective registry study that follows people with hereditary spastic paraplegia (HSP), their unaffected family members, and unrelated healthy controls. Participants attend yearly visits for standardized exams and may provide optional biosamples, imaging, movement testing, questionnaires, and genetic testing when needed. The study seeks to describe the disease course and find measurable biomarkers.

What it is studying. The study aims to define the clinical spectrum and natural progression of HSP and related disorders, identify digital, imaging, and molecular biomarkers that help with diagnosis and research, and study genetic causes and molecular mechanisms behind these diseases.

What the researchers hope to learn. To map the natural history of HSP, identify measurable biomarkers (digital, imaging, molecular), and improve understanding of genetic causes and molecular mechanisms to support future diagnosis and research.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Next-Gen Sequencing (NGS)
Other
  • Clinical rating scale to measure disease severity and progression

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants are seen at annual study visits and followed long term (target 20 years). Visits include a standardized clinical examination with rating scales (for example the Spastic Paraplegia Rating Scale) and data entry into the HSP Registry. Biosample donation is optional and may include blood, urine, cerebrospinal fluid (spinal tap), and/or a skin biopsy; optional additional testing may include imaging, quantitative movement analysis, neuropsychological tests, questionnaires, and molecular (OMICS) analyses. Participants without a genetic diagnosis may be offered next‑generation sequencing (genetic testing).

How the study is structured. This is a prospective, registry-based observational study. Participants are seen about once a year for standardized clinical exams and rating scales. Optional procedures may include blood, urine, cerebrospinal fluid (CSF) sampling, skin biopsy, imaging, quantitative movement analysis, neuropsychological testing, questionnaires, and molecular (OMICS) analyses. People without a genetic diagnosis may be offered next-generation genetic testing.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Austria, Germany, Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on hereditary spastic paraplegia

Clinical trials21 trials listed for hereditary spastic paraplegiaEvery trial the registry lists for hereditary spastic paraplegia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in hereditary spastic paraplegia researchLatest monthly update: September 2026. Includes: SPTSSA treatment signal. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Oct 14, 2019
Primary completion
August 2039 (estimated)
Study completion
August 2041 (estimated)
Target enrollment
2000 participants (estimated)
Last updated on registry
May 19, 2021
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Dr. Rebecca Schule
Collaborators
  • German Federal Ministry of Education and Research
  • German Center for Neurodegenerative Diseases (DZNE)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (13)

Terms used on this page · explanations by MedicalUpdates.ai

natural history study
A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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