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Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

This study, called HSPseq, is looking to understand more about how genetics play a role in Hereditary Spastic Paraplegia (HSP) and similar conditions. HSP is a group of over 80 inherited neurological diseases that cause progressive spasticity (muscle stiffness). Currently, genetic testing isn't standard for children with spastic paraplegia, and the link between a person's symptoms and their genetic makeup isn't fully understood. This study aims to identify genetic findings and connect them with the specific types of HSP symptoms seen in patients. You may be able to join if you are between 1 month and 30 years old and have a clinical diagnosis of progressive spasticity.

Study design
This is an observational study planning to include 200 participants. It is not testing a specific intervention or drug.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study will identify genetic findings and correlate them with HSP phenotypes over an average of one year.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05354622

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Recruiting
Not specifiedAges 1–30Observational
Boston Children's Hospital
~200 participants
Updated 2026-03-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identify Genetic Findings
Measured over An average of 1 year
+1 more outcome measured

Conditions

Hereditary Spastic Paraplegia
Neurodegenerative Diseases
Pediatric Disorder
Spasticity, Muscle
Motor Neuron Disease
Movement Disorders

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Hereditary Spastic Paraplegia

NCT05354622

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Boston Children's Hospital

    Boston, Massachusettsstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Darius Ebrahimi-Fakhari, MD, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital

Who to contact

Darius Ebrahimi-Fakhari, MD, PhD
[email protected]
617-355-8356
Email the study team

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Eligibility criteria

Inclusion

Clinical diagnosis of progressive spasticity

What this trial measures

  • Identify Genetic FindingsAn average of 1 year

    Identifying genetic variants in patients with progressive spastic paraplegia

  • Correlating Genetic Findings with HSP PhenotypesAn average of 1 year

    Comparing phenotype/genotype associations via genome wide scanning