ClinicalTrials.gov record NCT05354622

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

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

Investigating the Genetic Basis of Hereditary Spastic Paraplegia

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
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.
AgeUnder 1 month old to 30 years old
SexAll
LocationUnited States
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.

This is a prospective observational study that collects clinical information and high-resolution DNA data to study hereditary spastic paraplegia (HSP) and related disorders. It focuses on people with suspected or diagnosed HSP (study includes ages from 1 month up to 30 years). The study aims to identify genetic variants and relate them to different clinical features over time.

What it is studying. The study is testing which genetic changes (single nucleotide changes or copy number variants) are present in people with progressive spastic paraplegia and how those genetic findings relate to the range of HSP symptoms and clinical subtypes.

What the researchers hope to learn. Identify genetic variants in patients with progressive spastic paraplegia; correlate molecular (genetic) findings with HSP clinical phenotypes to improve understanding of disease subtypes.

What this study is about

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

The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders. The HSPs are a group of more than 80 inherited neurological diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide. In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. In this study, the investigators hope to identify genetic factors related to HSP. By identifying different genetic factors, the investigators hope that over time we can develop better treatments for sub-categories of HSP based on cause.

Eligibility

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

Inclusion criteria

  • Clinical diagnosis of progressive spasticity

Study description and what participation involves

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

Show the detailed description from the registry

The hereditary spastic paraplegias (HSP) are a group of more than 80 inherited neurogenetic diseases that share the common feature of progressive spasticity. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability, with a combined prevalence of 2-5 cases per 100,000 individuals worldwide. In childhood-onset forms, initial symptoms are often non-specific and many children may not receive a diagnosis until progressive features are recognized, often leading to a significant diagnostic delay. Genetic testing in children with spastic paraplegia is not yet standard practice. The clinical diagnosis of HSP does not suggest anything about its molecular cause, with a wide range of outcomes dependent on the gene affected. The recent advances in HSP genetics speak to the importance of the field and the need for a more detailed study. Moreover, the relations between clinical features and genetic mechanisms are not well understood. Given the influence of genetics on the likelihood of developing HSP as well as the complexity and diversity of the phenotypes, progress in HSP genetics will require efforts looking at relatively large samples of the HSP population. By bringing together very detailed phenotype information with high resolution DNA analyses, and using new approaches for comparing sequence information in candidate genes or looking for phenotype/genotype associations via genome-wide scanning, the investigators aim to be a leader in this emerging area of HSP research. The aims of this study include:

  • To identify genetic findings (single nucleotide changes or copy number variants) in patients with progressive spastic paraplegia and related disorders.
  • To correlate molecular findings with HSP phenotypes.
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 will provide detailed clinical information about their symptoms and medical history and give biological samples for genetic analysis (DNA/genetic testing and genome-wide analyses are described in the record). Data and samples will be used to look for genetic variants and to compare genotype with clinical features; the study has a target duration of about 5 years and primary analyses are reported on an average 1-year timeframe. The registry does not list any specific invasive procedures (for example, spinal taps or biopsies are not mentioned).

How the study is structured. A prospective observational cohort study lasting up to about five years. Participants do not receive study-assigned treatments; instead investigators collect medical and symptom information and perform genetic analyses to look for gene–symptom associations.

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 United States. 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
Apr 25, 2022
Primary completion
Apr 29, 2027 (estimated)
Study completion
Apr 29, 2027 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Mar 18, 2026
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
Boston Children's Hospital
Principal investigator
Darius Ebrahimi-Fakhari, Principal Investigator
Boston Children's Hospital

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 (1)

Terms used on this page · explanations by MedicalUpdates.ai

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.

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.

← Back to clinical trials