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Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

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

Who can join

Up to age 30 · All sexes · Healthy volunteers welcome

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

About the study

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.

Sponsor: Boston Children's Hospital · Participants: 700 · Started: Apr 27, 2020

Contact the study team

• Darius Ebrahimi-Fakhari, MD, PhD · Phone: 617-355-6388

Official record on ClinicalTrials.gov — NCT04712812

Locations in the U.S.

Conditions

• Hereditary Spastic Paraplegia
• Paraplegia

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.