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

Hereditary Spastic Paraplegia Clinical Trial

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

Status Recruiting

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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• AP4-related Hereditary Spastic Paraplegia
• Hereditary Spastic Paraplegia
• Muscle Spasticity
• Paraplegia
• Spastic Paraplegia, Hereditary
• SPG4
• SPG47
• SPG50
• SPG51
• SPG52

• NCT number: NCT04712812
• Study type: Observational [Patient Registry]
• Source: Boston Children's Hospital
• Contact: Darius Ebrahimi-Fakhari, MD, PhD
• Phone: 617-355-6388
• Email: hsp.research@childrens.harvard.edu
• Status: Recruiting
• Start date: April 27, 2020
• Completion date: April 26, 2025