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

NCT02859428 | Terminated

• 2 other identifiers: 16015816-N-0158
• Study Type: observational
• Target: 51
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hereditary Spastic Paraplegia

Keywords

Hereditary Spastic Paraplegia

Outcome Measures

Primary Outcomes (2)

• Spastic Paraplegia Rating Scale (SPRS)

  Disease progression as measured by the SPRS and SF-36 scales.

  Once a year for five years

• SF-36

  Disease progression as measured by the SPRS and SF-36 scales.

  Once a year for five years

Secondary Outcomes (4)

• Cortical silent period

  Once a year for five years

• CMCT, resting motor thresholds, MEP amplitude and MEP latency

  Once a year for five years

• miRNA relative quantity.

  Once a year for five years

• Fasting Triglycerides, total Cholesterol, HDL and LDL, Leptin, Insulin levels.

  Once a year for five years

Study Arms (1)

Patients with hereditary spastic paraplegia (HSP)

Patients with hereditary spastic paraplegia types 3A, 4 and 31.

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of HSP caused by mutations of known pathological significance or variants of unknown significance at the genomic loci associated with the genes ATL1, SPAST and REEP1.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Ma YM, Zhao L. Mechanism and Therapeutic Prospect of miRNAs in Neurodegenerative Diseases. Behav Neurol. 2023 Nov 23;2023:8537296. doi: 10.1155/2023/8537296. eCollection 2023.

  PMID: 38058356 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

Biospecimen

Retention: SAMPLES WITH DNA

Skin Fibroblasts

MeSH Terms

Conditions

Spastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Craig D Blackstone, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 6, 2016
• First Posted: August 9, 2016
• Study Start: November 18, 2016
• Primary Completion: October 16, 2020
• Study Completion: October 16, 2020
• Last Updated: October 20, 2020

Record last verified: 2020-10

Locations

US (1)