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

NCT ID: NCT04020198

Last Updated: 2025-04-06

Basic Information

• Recruitment Status: TERMINATED
• Total Enrollment: 8 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-01-15
• Study Completion Date: 2022-10-19

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.

Detailed Description

This is 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 (NPH) and matched controls. Saliva, plasma, serum, urine, and cerebrospinal fluid samples will be collected from participants. Samples will be assessed for levels of misfolded alpha-synuclein aggregates. Clinical characteristics will also be assessed.

Misfolded alpha-synuclein aggregates have the potential to serve as an early biomarker for PD and MSA, increasing the ability to diagnose and treat individuals with these diseases earlier. This study examines the effectiveness of using a novel technique for distinguishing between different parkinsonian disorders by measuring small misfolded α-synuclein aggregates in different biofluids.

Conditions

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: OTHER

Study Groups

Parkinson's Disease

Subjects who have a PD diagnosis

Biomarker assay

Intervention Type: 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.

Multiple System Atrophy

Subjects who have an MSA diagnosis

Biomarker assay

Intervention Type: 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

Subjects who do not have a diagnosed parkinsonian disorder

Biomarker assay

Intervention Type: 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.

Rapid Eye Movement Sleep Behavior Disorder (RBD)

Subjects who have a diagnosis of RBD

Biomarker assay

Intervention Type: 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.

Normal Pressure Hydrocephalus

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

Biomarker assay

Intervention Type: 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.

Interventions

Biomarker assay

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

1. Age 50-75

2. Diagnosis of idiopathic PD as confirmed by a movement disorder specialist

3. Age of onset of motor symptoms between 50 - 75

4. Well-established response to dopaminergic agents and/or amantadine

5. Ability to complete questionnaires

6. Ability to provide informed consent

7. Willingness to go off parkinsonian medication for 12 hours prior to "off" assessment

8. Medical record includes a brain MRI taken within the past 12 months showing no evidence of a tumor or abscess

1. Age 50-75

2. Age of onset of motor symptoms between 50-75

3. Diagnosis of probable or possible MSA as confirmed by a movement disorders specialist

4. Ability to complete questionnaires

5. Ability to provide informed consent

6. Willingness to go off parkinsonian medications for 12 hours prior to "off" assessment

7. Medical record indicates a brain MRI taken within the past 12 months showing no evidence of a tumor or abscess

1. Age 50-75

2. Diagnosis of RBD using current consensus criteria

3. Ability to provide informed consent

4. Ability to complete questionnaires

5. Medical record indicates a brain MRI taken within the past 12 months showing no evidence of a tumor or abscess

1. Age 50-75

2. Scheduled to undergo an LP to evaluate diagnosis of NPH at Stony Brook Neurological Associates

3. Ability to complete questionnaires

4. Ability to provide informed consent

1. Age 50-75

2. Scheduled to undergo an LP at Stony Brook Neurological Associates

3. Ability to complete questionnaires

4. Ability to provide informed consent

Exclusion Criteria

1. Symptomatic (secondary) parkinsonism (ie. drug induced)

2. Atypical parkinsonian variants

3. History of cancer (except basal or squamous cell skin cancer) within 5 years

4. Known liver disease

5. Hematological disorders

6. History of stereotactic or ablative brain surgery

7. Treatment with an investigational drug or device within the last 30 days

8. Pregnancy

9. Inability to comply with or tolerate study procedures

10. Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR>1.3;platelet count <80,000)

MSA Subjects:

1. Symptomatic (secondary) parkinsonism (ie. drug induced)

2. History of cancer (except basal or squamous cell skin cancer) within 5 years

3. Known liver disease

4. Hematological disorders

5. History of stereotactic or ablative brain surgery

6. Treatment with an investigational drug or device within the last 30 days

7. Pregnancy

8. Inability to comply with or tolerate study procedures

9. Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR>1.3;platelet count <80,000)

For RBD Subjects:

1. Signs for symptoms suggestive of parkinsonian disorder

2. History of cancer (except basal or squamous cell skin cancer) within 5 years

3. Known liver disease

4. Hematological disorders

5. History of stereotactic or ablative brain surgery

6. Treatment with an investigational drug or device within the last 30 days

7. Pregnancy

8. Inability to comply with or tolerate study procedures

9. Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR>1.3;platelet count <80,000)

For NPH:

1. History of cancer (except basal or squamous cell skin cancer) within 5 years

2. Known liver disease

3. Hematological disorders

4. History of stereotactic or ablative brain surgery

5. Treatment with an investigational drug or device within the last 30 days

6. Pregnancy

7. Inability to comply with or tolerate study procedures

8. Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR>1.3;platelet count <80,000)

For Controls:

1. Signs or symptoms suggestive of parkinsonian disorder

2. History of rapid eye movement (REM) Sleep Behavior Disorder (RBD)

3. History of cancer (except basal or squamous cell skin cancer) within 5 years

4. Known liver disease

5. Hematological disorders

6. History of stereotactic or ablative brain surgery

7. Treatment with an investigational drug or device within the last 30 days

8. Pregnancy

9. Inability to comply with or tolerate study procedures

10. Conditions precluding the safe performance of lumbar puncture (LP): use of anticoagulants and hematologic abnormalities (INR>1.3;platelet count <80,000)

• Minimum Eligible Age: 50 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Stony Brook University

OTHER

Sponsor Role: lead

Responsible Party

Carine Maurer

Assistant Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Carine W. Maurer, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Stony Brook University Medical Center

Locations

Stony Brook University Medical Center

Stony Brook, New York, United States

Countries

United States

Other Identifiers

SNCA 1355881

Identifier Type: -

Identifier Source: org_study_id