A Pilot Biomarker Study Assessing Alpha-synuclein Aggregates Across Biofluid Reservoirs in Patients With Synucleinopathies

NCT04020198 | Terminated

• 1 other identifier: SNCA 1355881
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

This will be an observational study looking at clinical and biomarker characteristics in patients with Parkinson's Disease (PD), Multiple System Atrophy (MSA), Rapid Eye Movement Sleep Behavior Disorder (RBD), Normal Pressure Hydrocephalus and matched controls. Saliva, plasma, serum, urine, and cerebrospinal fluid (CSF) samples will be collected from participants.

Conditions

Parkinson Disease; Multiple System Atrophy; Rapid Eye Movement Sleep Behavior Disorder; Normal Pressure Hydrocephalus

Keywords

Alpha-synuclein

Outcome Measures

Primary Outcomes (1)

• Compare levels of misfolded alpha-synuclein aggregates in participants with PD, MSA, RBD, NPH and controls

  Levels of misfolded alpha-synuclein in CSF, serum, plasma, saliva, and urine will be quantified using the protein misfolding cyclic amplification (PMCA) technology

  3 weeks

Secondary Outcomes (2)

• Investigate the relationship between levels of misfolded alpha-synuclein aggregates and disease severity in PD and MSA

  3 weeks

• Investigate the relationship between levels of misfolded alpha-synuclein aggregates across different biofluid reservoirs, including CSF, serum, plasma, saliva, and urine

  3 weeks

Study Arms (5)

Parkinson's Disease

Subjects who have a PD diagnosis

Other: Biomarker assay

Multiple System Atrophy

Subjects who have an MSA diagnosis

Other: Biomarker assay

Age-matched controls

Subjects who do not have a diagnosed parkinsonian disorder

Other: Biomarker assay

Rapid Eye Movement Sleep Behavior Disorder (RBD)

Subjects who have a diagnosis of RBD

Other: Biomarker assay

Normal Pressure Hydrocephalus

Subjects who are prescribed a lumbar puncture to treat normal pressure hydrocephalus

Other: Biomarker assay

Interventions

Biomarker assay OTHER

Biomarker assay will be used to quantify levels of misfolded alpha-synuclein aggregates in biofluid samples from patients with Parkinson's disease, multiple system atrophy, rapid eye movement sleep behavior disorder, normal pressure hydrocephalus and controls.

Age-matched controls; Multiple System Atrophy; Normal Pressure Hydrocephalus; Parkinson's Disease; Rapid Eye Movement Sleep Behavior Disorder (RBD)

Eligibility Criteria

• Age: 50 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with PD, MSA, RBD, NPH and controls

You may qualify if:

• Age 50-75
• Diagnosis of idiopathic PD as confirmed by a movement disorder specialist
• Age of onset of motor symptoms between 50 - 75
• Well-established response to dopaminergic agents and/or amantadine
• Ability to complete questionnaires
• Ability to provide informed consent
• Willingness to go off parkinsonian medication for 12 hours prior to "off" assessment
• Medical record includes a brain MRI taken within the past 12 months showing no evidence of a tumor or abscess

You may not qualify if:

• Symptomatic (secondary) parkinsonism (ie. drug induced)
• Atypical parkinsonian variants
• History of cancer (except basal or squamous cell skin cancer) within 5 years
• Known liver disease
• Hematological disorders
• History of stereotactic or ablative brain surgery
• Treatment with an investigational drug or device within the last 30 days
• Pregnancy
• Inability to comply with or tolerate study procedures
• Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR\>1.3;platelet count \<80,000)
• MSA Subjects:
• Age 50-75
• Age of onset of motor symptoms between 50-75
• Diagnosis of probable or possible MSA as confirmed by a movement disorders specialist
• Ability to complete questionnaires

Sponsors & Collaborators

• Stony Brook University: lead

Study Sites (1)

Stony Brook University Medical Center

Stony Brook, New York, 11794-8121, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

CSF, plasma, serum, urine

MeSH Terms

Conditions

Parkinson Disease; Multiple System Atrophy; REM Sleep Behavior Disorder; Hydrocephalus, Normal Pressure; Parkinson Disease 4, Autosomal Dominant Lewy Body

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Primary Dysautonomias; Autonomic Nervous System Diseases; REM Sleep Parasomnias; Parasomnias; Sleep Wake Disorders; Mental Disorders; Hydrocephalus

Study Officials

• Carine W. Maurer, MD, PhD

  Stony Brook University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: July 10, 2019
• First Posted: July 15, 2019
• Study Start: January 15, 2020
• Primary Completion: October 19, 2022
• Study Completion: October 19, 2022
• Last Updated: April 6, 2025

Record last verified: 2025-04

Locations

US (1)