Synuclein-One Study

Study Overview
=================
Brief Summary
-----------------
The Synuclein-One Study will be evaluating α-synuclein in patients with Parkinson's disease, Multiple System Atrophy, Dementia with Lewy bodies and Pure Autonomic Failure. Using a simple diagnostic test will improve clinical accuracy in diagnosing, earlier diagnosis, and distinguish between neurodegenerative diseases.

Detailed Description
-----------------
Phosphorylated α-synuclein pathology in the diagnosis of synucleinopathies through qualitative and quantitative measurements of cutaneous phosphorylated α-synuclein in patients with Parkinson's disease, Multiple System Atrophy, Dementia with Lewy bodies and Pure Autonomic Failure. An effective tissue biomarker will provide an accurate diagnosis of α-synuclein in clinical practice, will differentiate between synucleinopathies, enable assessment of target engagement in the development of disease modifying and neuroprotective therapies and accelerate the development of neuroprotective and disease modifying therapies.

Official Title
-----------------
Cutaneous Phosphorlyated α-synuclein Detection as a Biomarker of Synucleinopathy

Conditions
-----------------
Parkinson Disease, Multiple System Atrophy, Dementia With Lewy Bodies, Pure Autonomic Failure

Intervention / Treatment
-----------------
* Diagnostic Test: Skin Biopsy


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Male and female between 40-99 years of age Prior clinical diagnosis of Parkinson's disease, Multiple System Atrophy, Dementia with Lewy bodies or Pure Autonomic Failure Health Subjects, no history of clinical or symptoms suggestive with synucleinopathy Exclusion Criteria: Clinical evidence of severe vascular disease (history of ulceration, poor wound healing, vascular claudication) Clinically active coronary artery or cerebrovascular disease Current smoker or alcoholism History of allergic reaction to local anesthesia for skin biopsies Use of blood thinners (aspirin or Plavix alone is allowed) Significantly impaired wound healing or history of scarring or keloid formation Healthy individuals or individuals with synucleinopathy is disease may be explained by other causes: recent history of encephalitis, Cortical dementia of Alzheimer's type, Whipple's disease, toxin exposure, repeated head injury and stepwise disease progression suggestive of vascular etiology

Ages Eligible for Study
-----------------
Minimum Age: 40 Years
Maximum Age: 99 Years

Sexes Eligible for Study
-----------------
All

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Parkinson's disease<br>Looking for 105 patients with a clinically established diagnosis of Parkinson's disease between 40-99 years of age. | Diagnostic Test: Skin Biopsy<br>* Test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein, define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein deposition for the diagnosis of synucleinopathies and to differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies.<br>|
| Multiple System Atrophy<br>Looking for 40 patients with a clinically established diagnosis of Multiple System Atrophy between 40-99 years of age. | Diagnostic Test: Skin Biopsy<br>* Test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein, define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein deposition for the diagnosis of synucleinopathies and to differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies.<br>|
| Dementia with Lewy bodies<br>Looking for 95 patients with a clinically established diagnosis of Dementia with Lewy bodies between 40-99 years of age. | Diagnostic Test: Skin Biopsy<br>* Test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein, define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein deposition for the diagnosis of synucleinopathies and to differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies.<br>|
| Pure Autonomic Failure<br>Looking for 60 patients with a clinically established diagnosis of Pure Autonomic Failure between 40-99 years of age. | Diagnostic Test: Skin Biopsy<br>* Test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein, define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein deposition for the diagnosis of synucleinopathies and to differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies.<br>|
| Healthy Controls<br>No history of clinical or symptoms suggestive of Parkinson's disease, Multiple System Atrophy, Dementia with Lewy bodies or Pure Autonomic Failure between 40-99 years of age. | Diagnostic Test: Skin Biopsy<br>* Test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein, define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein deposition for the diagnosis of synucleinopathies and to differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Primary Outcome 1 | To define test accuracy and precision of skin biopsy detection of phosphorylated α-synuclein. | 2 years | 
| Primary Outcome 2 | To define sensitivity and specificity of skin biopsy detection of phosphorylated α-synuclein. | 2 years | 
| Primary Outcome 3 | To differentiate between the synucleinopathies by quantitative measurement of phosphorylated α-synuclein with skin biopsies. | 2 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Neurodegenerative Diseases