What is this study trying to find out about hereditary spastic paraplegia?

This study aims to better understand the clinical features, progression, and genetics of early onset hereditary spastic paraplegia. Researchers want to improve diagnosis, counseling, and identify targets for future treatments. The study is led by Boston Children's Hospital and collects detailed patient data and biological samples.

Who may be eligible for this hereditary spastic paraplegia clinical trial?

Anyone under 30 years old with symptoms starting before age 18 and a confirmed genetic variant related to hereditary spastic paraplegia may be eligible. Relatives of affected individuals may also qualify. The study accepts all genders. Please review eligibility criteria for more details.

Is there any cost to participate in this hereditary spastic paraplegia clinical trial?

Study-related care, including data collection and sample handling, is provided at no cost. However, personal travel or other expenses may not be covered and can vary depending on individual circumstances.

Actively Recruiting

Age: 0 - 30Years

All Genders

Healthy Volunteers

ID04712812

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

Led by Boston Children's Hospital · Updated on 2026-03-18

700

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are collecting long-term clinical data and biological samples from male and female patients under 30 who have early onset hereditary spastic paraplegia HSP. This neurodegenerative disorder causes progressive neurological decline and is the most common inherited cause of spasticity and disability. The study aims to better understand the diseases causes, clinical course, diagnosis, and treatment to support future research. Participants include those diagnosed clinically and genetically with HSP as well as their family members. The study involves building a registry and natural history database that documents clinical, imaging, and molecular features. Biological samples like blood, skin, and saliva will be collected to create a biorepository for molecular and cellular research. The registry and samples will be securely stored and shared with approved investigators worldwide. During participation, clinical and patient-reported outcome measures are collected over about one year to track disease progression. Researchers will use this data to define the disease spectrum, natural history, and meaningful endpoints for future trials. The study also supports early diagnosis, family counseling, and ongoing re-contact for research purposes. Participant involvement includes providing samples, clinical data, and follow-up information to help advance understanding of early onset HSP.

CONDITIONS

Brief Title

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Who Can Participate

Age: 0 - 30Years

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

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 be a relative of an individual with a confirmed diagnosis (if applicable)

You will not qualify if you...

Not having a diagnosis of hereditary spastic paraplegia and/or not being related to an individual with such diagnosis

Research Team

Darius Ebrahimi-Fakhari, MD, PhD

Nicole Battaglia, BS

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here