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Protocol Details

Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 7
Max Age: 80

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Hereditary Spastic Paraplegia

Recruitment Keyword(s)



Hereditary Spastic Paraplegia

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Neurological Disorders and Stroke


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.


To learn more about common forms of hereditary spastic paraplegia and find out how it progresses over time.


People age 7 and older with SPG3A, SPG4A, or SPG31


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.

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-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.


-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.

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Blackstone C. Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci. 2012;35:25-47. doi: 10.1146/annurev-neuro-062111-150400. Epub 2012 Apr 20.

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Principal Investigator

Referral Contact

For more information:

Craig D. Blackstone, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)

Alice B. Schindler
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 5S219
10 Center Drive
Bethesda, Maryland 20892
(301) 496-8969

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010

Clinical Trials Number:


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