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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04712812
Other study ID # P00033016
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date April 27, 2020
Est. completion date April 26, 2025

Study information

Verified date September 2023
Source Boston Children's Hospital
Contact Darius Ebrahimi-Fakhari, MD, PhD
Phone 617-355-6388
Email hsp.research@childrens.harvard.edu
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

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 or female patients who exhibited onset of HSP symptoms at 18 years old or younger with (1) a clinical diagnosis of hereditary spastic paraplegia and/or (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 registry for studies will advance knowledge of the causes, clinical course, diagnosis and treatment of these conditions.


Description:

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: 1. Create a registry to perform an initial cross sectional analysis of clinical, imaging and molecular data to establish the disease spectrum. 2. Create a repository of biological samples and collection of longitudinal clinical data that helps establish the natural history of early onset HSP. 3. Create a registry that allows for re- identification and re-contact of participants by appropriate investigators.


Recruitment information / eligibility

Status Recruiting
Enrollment 400
Est. completion date April 26, 2025
Est. primary completion date April 26, 2024
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 30 Days and older
Eligibility Inclusion Criteria: - Onset of hereditary spastic paraplegia symptoms before the age of 18 years - The presence of variants in HSP related genes and/or a relative of a person with such a diagnosis Exclusion Criteria: - Not having such a diagnosis and/or not being related to such individual

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States Boston Children's Hospital Boston Massachusetts

Sponsors (2)

Lead Sponsor Collaborator
Boston Children's Hospital CureAP4 Foundation

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Establishment of data repository Create a registry to perform an initial cross sectional analysis of clinical, imaging and molecular data to establish the disease spectrum. Through study completion, an average of 1 year
Primary Establishment of bio-repository Create a repository of biological samples and collection of longitudinal clinical data that helps establish the natural history of early onset HSP. Through study completion, an average of 1 year
Primary Registry for recontact Create a registry that allows for re-identification and re-contact of participants by appropriate investigators. Through study completion, an average of 1 year
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