TerminatedNot Applicable

Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31

Stopped: Investigator left NIH

United States51 participantsStarted 2016-11-18

Plain-language summary

Background: Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time. They want to look for changes in the blood and cells of people with the most common forms of HSP that might allow them to better understand the disease. Objectives: To learn more about common forms of hereditary spastic paraplegia and find out how it progresses over time. Eligibility: People age 7 and older with SPG3A, SPG4A, or SPG31 Design: Participants will have 1 two-hour visit each year for up to 5 years. At 1 visit, adult participants may have a skin biopsy. An area of skin will be numbed then a tool will remove a small piece of skin. At all visits, all participants will have a physical exam and blood drawn. At all visits, participants will do a few tasks like walking quickly and climbing stairs. Participants can give permission for their skin cells, DNA samples, and data to be used in other studies. The samples and data will have no identifying information.

Who can participate

Age range7 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: * 7 years or older. * Proven genetic diagnosis or variant of unknown significance considered by the Principal Investigator (PI) to be likely pathogenic at genomic loci associated with SPG3A, SPG4 and SPG31. * For the subcomponent involving transcranial magnetic stimulation (TMS) / nerve conduction studies, patients must be greater than or equal to 18 years of age and would be willing to undergo the procedure. EXCLUSION CRITERIA: * Adults unable to provide consent or minors without a parent or a guardian. * Unwillingness to consent for collection of biological samples or their cryopreservation. * Any bleeding disorder that would prevent or present any danger either during blood extraction or skin biopsy, such hemophilia, or the long-term use of anticoagulants such as Coumadin. * For the subcomponent of this study involving transcranial magnetic stimulation (TMS), performed with nerve conduction studies: * Patients under 18 years of age. * Patients withwith implanted devices, such as pacemakers, pumps or stimulators. * Patients withor metal in the cranium (excluding dental work) or eye. * Patients with known seizure disorder. * Patients who are unwilling or unable to participate.

What they're measuring

Spastic Paraplegia Rating Scale (SPRS)

Timeframe: Once a year for five years

SF-36

Timeframe: Once a year for five years

Trial details

NCT IDNCT02859428

SponsorNational Institute of Neurological Disorders and Stroke (NINDS)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2020-10-16