Multiple System Atrophy Study Group

Have questions? Contact the group's MDS Staff Liaison, Amber Flatland, at aflatland@movementdisorders.org

Goals

We plan to develop a common data-set, including disease-specific validated rating scales for harmonized data acquisition. Second, we intend to launch a global MSA patient registry. Third, we will launch studies focusing on the discovery of diagnostic and surrogate (bio)markers, and determination of environmental and genetic underpinnings. Finally, we will develop consensus (best-practice) guidelines for the standard of care in MSA (based on the principles of evidence-based medicine).

We defined the following specific aims:

To establish a global patient registry
To set up a decentralized biomaterial bank and thereby define standard operating procedures to harmonize blood, CSF and brain tissue sampling.
To identify MSA genetic risk loci using large-scale genome-wide association studies
To develop, translate and validate additional MSA-specific rating scales
To define and validate autonomic progression markers
To define and validate MRI and functional imaging surrogate progression markers
To develop interventional trial guidelines
To develop best-practice (evidence-based) guidelines for pharmacologic as well as non-pharmacologic treatments.
To investigate MSA pathophysiological mechanisms and screen candidate compounds in preclinical MSA models

Need For Study Group in the Field

Multiple system atrophy (MSA) is a rare and relentlessly progressive movement disorder with an estimated prevalence of 4/100,000 people (Schrag 1999). There is currently no treatment available to significantly alleviate motor and autonomic symptoms or to modify the natural course of the disease. In addition, there are no widely accepted guidelines on symptomatic treatment strategies available.

To date, clinical MSA research has been limited by the low prevalence rate preventing individual research sites from studying sufficient patient numbers. Thus, a coordinated effort at an international level is required to advance MSA research in the field of biomarker discovery, early diagnosis, definition of genetic underpinnings and translational drug development. Consequently, an administrative framework for global collaborative MSA research is needed.

Leadership

Chair
Wolfgang Singer

Co-Chair
Maria Teresa Pellecchia

Steering Committee

Erwan Bezard
Katherine Marie Longardner
Alessandra Fanciulli
Viorica Chelban
Nikolaus McFarland
Manu Sharma
Vikram Khurana
Florin Gandor
Alexander Pantelyat
Tanya Gurevich

Multiple System Atrophy Study Group

Goals

View the group's:

Leadership

Steering Committee

Resource Type

Authoring group

Published Papers

Genome Sequence Analyses Identify Novel Risk Loci for Multiple System Atrophy

Patient-Reported Symptoms in the Global Multiple System Atrophy Registry

The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy

Reduced oligodendrocyte exosome secretion in multiple system atrophy involves SNARE dysfunction