MS experts turn
attention on NMO
In 2011, Dr Mark Slee of Flinders University, Adelaide,
received a grant to study the antibodies involved in the MS sister disease,
neuromyelitis optica (NMO).
The MSRA incubator grant, supported by the Trish Multiple
Sclerosis Research Foundation, has enabled Dr Slee and his colleagues to
document and study one of the largest cohorts of NMO cases available
NMO is a severe inflammatory disease of the nervous
system affecting mainly the spinal cord and eye (optic) nerves. It has been
recognised as a distinct variant of MS for over 130 years. Despite this long
history, there is still a great deal to learn about NMO. There are also very
few treatment options for people diagnosed with NMO, as they do not respond to
the available MS therapies. This makes its correct diagnosis even more crucial.
The recent discovery of a potential biomarker in cases of
NMO has been an important development in understanding and managing the
The biomarker is an ‘auto-antibody’ that recognises a
water channel in the support cells of the brain known as astrocytes. The
discovery provides an important clue to the development of the disease,
suggesting that one of the first events may be a mis-directed immune response
In this project, Dr Slee and his colleagues from around
Australia and New Zealand aimed to determine the importance of this biomarker
in NMO diagnosis. The team is investigating how accurately it can distinguish
between people who have typical MS, typical NMO, NMO spectrum disease and
people without any medical disorders.
To date, they have collected nearly 150 cases of patients
with NMO, NMO spectrum disease and matched classical MS. The collection
includes detailed clinical data, magnetic resonance imaging (MRI) data and
serum collected for each individual.
The team is now analysing this information as well as
testing the assay to be used for antibody detection. The assay is currently
being assessed at an Australian reference laboratory and will also be sent for
independent testing at Prof Angela Vincent’s laboratory at the University of
Oxford for final testing. Prof Vincent is an expert in this field and her
laboratory is an international referral centre for the measurement of
antibodies in neurological disorders.
This NMO antibody study is part of a large collaboration
across Australia and New Zealand which has now received a major MSRA project
grant. The team will examine the incidence, prevalence and characteristics of
NMO in the population. The neurologists and neuroscientists involved all have a
special interest in MS and NMO. Many of them have previously had a pivotal role
in the incredibly successful ANZgene collaboration that identified a number of
key genetic variations that predispose people to developing MS.
The considerable number of samples collected is a credit
both to the researchers and the willingness and support of the MS community to
be involved in this research.
This will be one of the most comprehensive studies of the
sensitivity and specificity of a biomarker for NMO yet undertaken. Together
with the larger study it will greatly improve our understanding of both NMO and