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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 19, 2016 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier:
First received: August 6, 2016
Last updated: April 21, 2017
Last verified: December 19, 2016


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.

Hereditary Spastic Paraplegia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Disease Natural History and Biomarkers of SPG3A, SPG4A and SPG31

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Spastic Paraplegia Rating Scale (SPRS) [ Time Frame: Ongoing ]
  • SF-36 [ Time Frame: Ongoing ]

Estimated Enrollment: 300
Study Start Date: July 29, 2016
Estimated Study Completion Date: September 30, 2020
Estimated Primary Completion Date: August 20, 2020 (Final data collection date for primary outcome measure)
Detailed Description:

The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate patients with hereditary spastic paraplegia types 3A, 4 and 31. The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using validated rating scales. We also hope to develop bio- markers that could be used in future treatment trials.


The primary objective of this protocol is study the natural history of the most common forms of autosomal dominant hereditary spastic paraplegia. The information obtained will allow for the development of treatment trials. In some cases, blood or other biologic samples (including skin biopsies) will be obtained for future laboratory studies.


The number of participants to be enrolled will be set to 300.


This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology and biomarkers.


In this study we will track disease progression using the Spastic Paraplegia Rating Scale (SPRS). Also, we will measure levels of plasma lipids, insulin, leptin, and of certain micro RNAs to investigate their utility as biomarkers.


Ages Eligible for Study:   7 Years to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • 7 years or older.
  • Proven genetic diagnosis of HSP 3A, 4 and 31.


  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02859428

Contact: Alice B Schindler (301) 496-8969

United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Craig D Blackstone, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Additional Information:
Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS) Identifier: NCT02859428     History of Changes
Other Study ID Numbers: 160158
Study First Received: August 6, 2016
Last Updated: April 21, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Hereditary Spastic Paraplegia

Additional relevant MeSH terms:
Muscle Spasticity
Spastic Paraplegia, Hereditary
Muscular Diseases
Musculoskeletal Diseases
Muscle Hypertonia
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Hereditary Sensory and Motor Neuropathy
Nervous System Malformations
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on May 23, 2017