Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT04712812
Status
Recruiting
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Conditions

  • AP4-related Hereditary Spastic Paraplegia
  • Early Onset Hereditary Spastic Paraplegia
  • Hereditary Spastic Paraplegia
  • SPG11
  • SPG15
  • SPG3A
  • SPG4
  • SPG47
  • SPG50
  • SPG51
  • SPG52

Eligibility Criteria

Sex
ALL
Age
N/A - 30 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Apr 27, 2020
Status verified
Mar 2026
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
700 participants (estimated)

Arms

  • Arm: 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).

Primary Outcome Measure

Establishment of disease spectrum [ Time Frame: Through study completion, an average of 1 year ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Darius Ebrahimi-Fakhari, MD, PhD
[email protected]
617-355-6388
Nicole Battaglia, BS
[email protected]
Darius Ebrahimi-Fakhari, MD, PhD (PRINCIPAL_INVESTIGATOR)

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