ClinicalTrials.gov record NCT04712812

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

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

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

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.
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.
AgeUp 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 observational registry enrolls people with early-onset hereditary spastic paraplegia and, when appropriate, their family members to collect long-term clinical information and biological samples. The study aims to define clinical, imaging, and genetic features, build a sample bank, and create a registry that allows approved researchers to re-contact participants. Participation involves periodic assessments and sample collection, with data and samples stored securely.

What it is studying. The study is documenting the natural history, clinical and imaging features, and molecular characteristics of early-onset hereditary spastic paraplegia, while building a biorepository and a recontactable registry to support future research.

What the researchers hope to learn. To establish the disease spectrum of early-onset HSP, define its natural history, create a biorepository (blood, fibroblasts, induced pluripotent stem cells), and build a registry that supports diagnosis, counseling, endpoint definition for future trials, and approved researcher re-contact.

What this study is about

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

The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in HSP related genes and/or be a relative of a person with such a diagnosis. Currently, the treatment for this disorder is generally symptomatic and available therapies improve quality of life, but are grossly inefficient in slowing the disease progression. Access to the registry information will be limited to the study staff who are responsible for recruitment and maintenance of the registry. We hope that recruitment into the registry for studies will advance knowledge of the causes, clinical course, diagnosis, and treatment of these conditions.

Eligibility

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

Inclusion criteria

  • Onset of hereditary spastic paraplegia symptoms before the age of 18 years
  • Under the age of 30 years old
  • Must have a genetically confirmed variant in HSP-related genes and a relative of an individual with a confirmed diagnosis (if applicable).

Exclusion criteria

  • Not having such a diagnosis and/or not being related to such individual

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 neurodegenerative diseases that lead to progressive neurological decline. Collectively, the HSPs present the most common cause of inherited spasticity and associated disability. We aim to delineate the core clinical, imaging, and molecular features of pediatric onset hereditary spastic paraplegia. This registry and natural history study will facilitate an early diagnosis, enables counseling and anticipatory guidance of affected families and will help define clinically meaningful endpoints for future interventional trials. Samples will be collected for the purpose of molecular and cellular investigation that will help identify biomarkers and novel targets for therapy. The samples and clinical information will be housed in the Translational Neuroscience Center and a secure REDcap database, respectively; both located in Boston Children's Hospital (BCH), but will be available to investigators around the world after approval. The objectives of this protocol are to (1) To systematically document the clinical presentation and natural history of early-onset forms of HSP and (2) To facilitate an early diagnosis, enable counseling and anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits. Specifically, the aims are to:

  • Establish the disease spectrum through a cross-sectional analysis of clinical, imaging and molecular data
  • Establish the natural history of early-onset HSP through longitudinal clinician- and patient-reported outcome measures
  • Create a biorepository (blood samples, fibroblasts, induced pluripotent stem cells)
  • Create a registry that allows for re-identification and re-contact of participants by appropriate investigators
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 have their medical history and clinical information recorded and be followed over time (prospectively; target duration noted as 4 years). They may undergo clinical exams, imaging, clinician- and patient-reported outcome measures, and provide biological samples (blood, saliva, and/or skin). Skin samples may be used to create fibroblasts and induced pluripotent stem cells (this may involve a small skin biopsy). Clinical data and samples will be stored in a registry and biorepository; approved investigators may access data and re-contact participants.

How the study is structured. A prospective observational cohort (registry) planned for up to 4 years that collects clinician- and patient-reported outcome measures, imaging data, and biological samples over time without assigning any experimental treatment.

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 27, 2020
Primary completion
Dec 31, 2030 (estimated)
Study completion
Dec 31, 2030 (estimated)
Target enrollment
700 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, Director, Movement Disorders Program
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

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.
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.
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.
endpoints
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
interventional
A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
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.
biorepository
A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.

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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