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

Status: Recruiting
Location: See location...
Study Type: Observational
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 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
Participation Requirements
Sex: All
Maximum Age: 30
Healthy Volunteers: t
View:

• 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).

Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Contact Information
Primary
Darius Ebrahimi-Fakhari, MD, PhD
hsp.research@childrens.harvard.edu
617-355-6388
Backup
Nicole Battaglia, BS
hsp.research@childrens.harvard.edu
Time Frame
Start Date: 2020-04-27
Estimated Completion Date: 2026-04-26
Participants
Target number of participants: 700
Treatments
Proband with Hereditary Spastic Paraplegia
The study population consists of male and female patients up to the age of 30 years old with a clinical and molecular diagnosis of hereditary spastic paraplegia and/or their family members of interest (if applicable).
Sponsors
Leads: Boston Children's Hospital

This content was sourced from clinicaltrials.gov

Similar Clinical Trials

We couldn't find any related articles check for more on the main search page.