Available online at www.sciencedirect.com
Neuromuscular Disorders 23 (2013) 682–689
www.elsevier.com/locate/nmd
Workshop report
195th ENMC International Workshop: Newborn screening
for Duchenne muscular dystrophy 14–16th December, 2012,
Naarden, The Netherlands
Juliet A. Ellis a,b,⇑, Elizabeth Vroom c, Francesco Muntoni a
a
Dubowitz Neuromuscular Centre, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
b
The Randall Division of Cell & Molecular Biophysics, King’s College, London SE1 1UL, UK
c
Duchenne Parent Project, The Netherlands
1. Introduction
The 195th ENMC International Workshop on newborn
screening for Duchenne muscular dystrophy (DMD) was
held in Naarden, The Netherlands, on 14–16th December
2012. Twenty-one participants from seven countries (UK,
The Netherlands, Germany, Italy, Canada, USA, and
Australia), with expertise in neuropediatrics, neurology,
genetics, biochemistry, pathology, psychology, ethics,
sociology and parent representatives were present. DMD
NBS was last discussed at an ENMC workshop in 1992
[1], where it was concluded that the justification to screen
for DMD ‘is to provide optimal and specific information
to the parents in time, so they can make the decisions
which are the most appropriate for their family’. This
point was reviewed in the current workshop.
DMD is a progressive muscle wasting disorder, leading
to wheelchair confinement in the mid-teens, and
development of an associated cardiomyopathy. Death is
mainly from respiratory failure [2] although with the
implementation of optimal respiratory care, mean age at
survival is now well into the late 20s [3–7]. A milder form
of the condition, Becker uscular dystrophy (BMD) is also
recognised. DMD is an X-linked condition, arising from
out-of-frame or frame shift mutations in the DMD gene,
encoding for the cytoskeletal protein dystrophin. Two
unusual features of this disease are: (i) the large size of
the DMD gene and thus susceptibility to de novo
mutations; (ii) the absence of specific clinical symptoms
sufficient to alert medical professionals to the presence of
the disease in neonates. The most commonly recognised
⇑ Corresponding author at: Dubowitz Neuromuscular Centre, UCL
Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
E-mail address: [email protected] (J.A. Ellis).
0960-8966/$ - see front matter Ó 2013 Elsevier B.V. All rights reserved.
http://dx.doi.org/10.1016/j.nmd.2013.05.008
first disease sign is ambulatory delay, with 50% of
DMD boys first walking after 18 months [2]. Subtle
progression of clinical symptoms is responsible for a
prolonged diagnostic process, often lasting 2.5 years,
giving a mean age of diagnosis of 4.5 years [8,9]; a
figure which has changed little over the last 3 decades.
This often means that the optimal Standards of Care
(SOC) [6,7,10,11] are initiated far later than desired.
Despite this, it is clear that the pervasive nature of DMD
has much earlier manifestations than the motor ones;
global delay of development, feeding difficulties or failure
to thrive and the level of social interaction of affected
infants, are common early features. These issues cause
substantial parental distress as children fail to meet life
milestones, but are only rarely identified by medical
professionals as early signs of the condition. These
parental concerns play a significant impact on family lifequality and on the perceived ability to be good parents.
These aspects are important because for many families
the time interval free of concerns for their affected
children is in reality limited to the first few months of
life. This is a considerably shorter time period than
commonly acknowledged.
The delay in the diagnostic process, with its associated
emotional stress, economic costs, inadequate feelings of
parents towards providing optimal care for their
‘problem’ child, have all been considered in planning
strategies for diagnosing DMD boys under the age of
one and this includes newborn screening. Despite the
experience generated from at least 17 pilot newborn
screening (NBS) programmes for DMD in 10 countries,
spanning three decades, no country nationally screens for
DMD at the moment. In view of the evidence [6,7,10,11]
of benefit for earlier implementation of optimal SOC and
the emerging potential therapies in this field, there is
J.A. Ellis et al. / Neuromuscular Disorders 23 (2013) 682–689
increasing pressure to discuss the pros and cons of a
neonatal screening programme or other measures to
diagnose DMD in infancy. These issues prompted this
DMD NBS workshop.
1.1. Aims
The aim of this workshop was to assess the status of
NBS programs for DMD around the world, and to
assess the technical, ethical, and practical aspects that
need addressing, based on our current understanding of
treatment options for boys affected by this disorder. Our
discussion was informed from multiple parties, including
participants representing parent organisations and those
from DMD families who have boys either diagnosed by
NBS, or from following the traditional route. Our
discussion included the following topics:
To heighten awareness of the revised incidence of DMD.
Suitability of the Wilson and Jungner 1968 population
screening criteria for newborn screening for all rare
diseases in the 21st century.
Reviewing DMD NBS programmes to identify an
optimal methodology for such a programme.
The so-called ‘carefree’ period in DMD.
Outcome measures needed to assess natural history and
potentially effect of intervention in infancy.
Natural history data on DMD boys up to 4 years old.
Risks associated with DMD NBS screening versus risks
associated with not screening.
How to improve public education dissemination
methods to prospective parents and physicians.
Feasibility of prenatal and preconception screening
programmes.
2. Revised incidence of DMD
DMD (OMIM 310200) is one of the most common fatal
early childhood onset conditions known, with a global
prevalence, of 250,000, and a reported average incidence
of 1:3500 [12]. However, Jerry Mendell recently
re-examined these figures [13,14] presenting his findings at
this workshop. He demonstrated that the average global
DMD incidence is now closer to 1:5000, with the drop
being attributed to both reproductive planning within
DMD families and medical advances since the 1990s.
Similar figures were reported recently also from a number
of screening programmes worldwide. It is therefore
important that the updated DMD incidence is quoted in
future documents on DMD.
3. Newborn screening criteria for rare diseases
In 1968, the WHO commissioned a report [15] that listed
ten criteria to be met to support mandatory, state financed
population screening. These criteria were devised for adult
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screening and did not encompass specialised criteria
required for either child and/or rare disease screening.
The basic idea was to safeguard the best interests of
those individuals included in a mandatory screening
programme. Not everybody will benefit. They emphasised
those cases in the unclear/false positive/false negative
range and wrote: “the ‘border-line’ group in a population
may be far greater than the diseased”. Community
interests are included, but public health criteria are not
prioritized over individual interests. The Wilson and
Jungner approach was however meant less as a list of
fixed criteria than as an elaborated methodical point of
view to evaluate new screening possibilities. Since 1968,
these criteria have been implemented and in part
amended by various national screening committees across
the globe in an attempt to generate new standards in
keeping with medical and technological advances. The
most publicised and radical changes were proposed in a
multi-stakeholder and multi-phased process supported by
the Quebec Agence d’évaluation des technologies et des
modes d’intervention en santé (AETMIS) [16,17] where
the criteria were reviewed in the context of genomic
technological advances, so as to expand the criteria to
cover newborn and possibly also preconception screening.
However, the result, a “decision-guide”, is not yet
published. These amendments generated country-tocountry variation in the interpretation of the screening
criteria, but in all instances a medical treatment needs to
be available which improves health outcomes for a
disease to be added to a NBS programme. Recent
discussions by the USA’s Secretary’s Advisory
Committee on Heritable Disorders, and US National
Research Council, opted to include a broader concept of
benefit for the infant and added the family and society.
Benefit beyond a medical treatment might comprise,
therefore, early identification to facilitate immediate
intervention, even though the latter may not be changing
the clinical course of the disease. As a result, each State
in USA screens for treatable diseases, looking towards
the benefit of the family as well as to the child. However,
each State can decide on which diseases to screen for.
This broader perspective and stance should be
encouraged for other countries to follow.
4. DMD NBS programmes past, present and future
We discussed the screening test technologies and
practicalities associated with four DMD NBS past
programmes (Germany, Wales (UK); Manitoba (Canada)
and Ohio (USA)). Each of these programmes uses serum
creatine kinase (CK) elevation as the primary test assay
[18] analysed from a bloodspot collected as part of the
heel prick test taken shortly after birth. The ideal test
should have a high sensitivity and specificity, unequivocal
predictive value and a low false positive rate.
Unfortunately the CK test assay does not meet all of
these criteria. Firstly, the CK test is a secondary marker
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for the dystrophic process, i.e. an indirect indicator for
DMD. Therefore any test measuring CK will always
produce false negatives, due for example, to modifier
gene expression influencing serum CK level [19]. The CK
test can also produce false positive results, either from
birth trauma or due to the presence of other muscular
dystrophies (e.g. limb-girdle muscular dystrophy) since
the test is non-specific for DMD. Although this latter
point may be considered a ‘bonus’ in being able to
identify more than one disease from the same test, this
raises ethical issues and regulators insist that the test
assay should be specific for the tested condition. If we are
unable to persuade the regulators otherwise, then the test
assay may need to be redesigned.
Currently though, the CK test assay is the assay of
choice, confirmed with a following genetic test in the
DMD gene. Different programmes use a varying
threshold for positivity in order to reduce the frequency
of false positive tests. For example in the study in Ohio,
the threshold for considering the test abnormal was
raised from 600 U/L (used in a previous pilot phase) to
750 U/L when the study was extended to the entire State,
reducing the false positive test rare from 1.6% to 0.52%.
However, there has been no standardisation of this assay,
and other programmes (e.g. the Welsh), have had high
false negative rates [20]. In the Welsh program, if the CK
level was above the predetermined threshold, a repeat
assay was performed 4–6 weeks later to exclude false
positives. If this second test was also high, DMD was
confirmed by sequencing the DMD gene. This entire
screening process can take up to 2 months and lead to
significant parent anxiety. The Wales Newborn Screening
Programme ran from 1990 to 2011; ending due to the
UK Laboratory Accreditation Service being unable to
support the accreditation of the DMD testing following
the withdrawal of the external quality assurance scheme
by the Centres for Disease Control and Prevention in the
USA.
In Canada, NBS is a provincial responsibility and a pilot
voluntary opt-out DMD NBS programme began in
Manitoba in 1986 with the aim of reducing the number
of second DMD children born [21]. It became part of the
State screening programme in 1996, but was withdrawn
in 2007, due to insufficient funds being available for
many health programmes. The screening procedure was
similar to above, but DMD positive children/families
were assigned councillors from the point of disease
confirmation. As a result of this continuous monitoring
from the point of NBS diagnosis, councillors observed
and reported neurocognitive motor developmental delay
in DMD boys aged only 12–18 months old; a period
traditionally thought to be pre-symptomatic (see below).
Over the 21 years the Manitoba programme ran, 26/
172,860 boys were identified, with 18 DMD, 3 BMD,
2 CMD, 1 persistent CK-MM and 2 having normal CK
values. 16 of these mutations were de novo and 6 were
from carriers. The latter chose not to have prenatal
diagnosis on a second foetus, and 5 further DMD and 3
BMD boys were born. The lack of carrier testing was
attributed to multiple, complex reasons including lifestyle
and moral choices, mother’s age and number of current
DMD children [22]. Interestingly, current regulatory
policy dictates that DMD screening should be confined
to boys i.e. carrier status should not be identified, despite
the risk of further affected boys and to the carriers of
developing progressive heart disease [23]. At the
workshop we discussed the pros and cons of expanding
screening to include females, and whether carriers should
also be identified. Our discussions were inconclusive due
to insufficient data.
The longest running NBD DMD programme was a
private one performed by Guenter Scheuerbrandt in
Breitnau, near Freiburg in Germany which ran from
1974 to 2011 which began with a pilot programme with
20,000 blood spots at the University Children’s Hospital
in Freiburg, with a voluntary programme from 1977. A
newly developed bioluminescent test procedure with
luciferase from fireflies as key reagent was used [24]. To
keep the false positives down to 0.6%, a cut-off level of
200 U/L CK at 25 °C was used. Most of the boys’ blood
spots were obtained 4–6 weeks after birth at the first
check-up by their paediatrician. Among the 537,000 boys
tested, 155 had DMD (1:3600) and 35 BMD (1:15,300).
Not all repeated high-CK boys had a reliable diagnosis.
Efforts are underway to do genetic tests on all 190 old
high-CK blood spots for a full publication on the
programme and its results. In addition, 134 boys (1:4000)
were found with a newly detected benign dominantlyinherited blood anomaly with high CKBB isoenzyme in
platelets or leukocytes. Therefore, each high-CK blood
spot was tested with and without CKMM-antibody to
distinguish between the two high-CK situations. Only
about 5% of all male newborns were tested in this
programme; the price of €15/test paid by the parents
themselves was one reason, the absence of an effective
early treatment another, but the main reason was the
lack of professional promotion which the financial
situation did not allow.
Two revised test assay procedures were reported at the
workshop. The first is a blood spot CK-MM
immunoassay (Stuart Moat, Wales) which measures the
muscle isoform of the enzyme and is expected to be more
sensitive than total CK. The second is a two-tiered CK/
DNA test, where in cases of very high CK, the DMD
gene is sequenced on the same heel prick blood spot,
confirming the significance of a possible elevation in the
first CK (enzymatic) test without the need to proceed
with another blood sampling weeks later [13]. This has
the advantage of reducing parent anxiety time. It was
agreed at the meeting that this two-tiered test was the
way forward, and that the specificity and sensitivity of
the CK-immunoassay should be investigated further. To
ensure quality control and quality assurance it will be
necessary to identify at least one international diagnostic
J.A. Ellis et al. / Neuromuscular Disorders 23 (2013) 682–689
company capable of supplying these test reagents.
Similarly, Standard Operation Procedures will need to be
developed for this new assay.
Finally, a new preparatory pilot working towards a
DMD NBS screening programme is about to begin in
Australia, where each State operates under its own
regulatory rules. Although originally planned for Western
Australia, centred in Perth, this State concluded they
would not be able to add DMD to their NBS programme
due to it failing to meet the Wilson and Jungner criteria,
which they rigorously implement. This pilot programme
will now operate from Sydney (New South Wales), where
a wider interpretation of the Wilson and Jungner criteria
is used. It is planned to begin in 2013. This contrasts
with the recently unsuccessful UK (March 2012) National
Screening Committee (NSC) application (www.screening.
nhs.uk/musculardystrophy)
which
presented
data
demonstrating that it was timely to add DMD to the UK
NBS programme. The four major failings of this
application were: (i) lack of a validated screening test
acceptable to the public; (ii) inadequate understanding of
the natural history in DMD boys under 4 years old; (iii)
no identifiable early symptomatic phase and (iv) absence
of accepted treatments for neonatal use. Point (i) has
already been discussed above. Each of the remaining
points were discussed at the workshop (as detailed below)
and illustrate that much evidence is already being
collected to address these and that the experience in this
field is changing rapidly.
5. Newborn screening criteria specific to DMD
The original Wilson and Jungner criteria for mandatory,
state funded screenings acknowledged that ‘there should be
a recognisable latent or early symptomatic stage’, which
upon revision suggested by Andermann [17], had added
to its end ‘or increased level of genetic risk’. One of
the perceptions in DMD is an associated long
pre-symptomatic or ‘carefree’ period, because affected
children are frequently not seen by a health care
professional until they are at least 2 years old. However,
in reality it is only the first few months following birth,
that a true pre-symptomatic period exists [25–28]. Pane
et al. [26] report that in 45% of boys with a mean age of
27 months were found to have a suboptimal
developmental quotient, with the motor function and
speech and language domain more frequently affected
after the age of one year, compared to their peers. The
boys themselves become aware that they are different,
becoming weaker, rather than stronger with age. This
leads to their social exclusion, and considerable parent
anxiety, who feel unable to be ‘good’ parents, as
forcefully discussed by some of the members of the
advocacy groups at the meeting. While it is true that
precise appreciations of the milestones in an entire
population of DMD infants is not available, this is
obviously related to the fact that while a problem is
685
suspected for years, the definitive diagnosis only occurs
after a mean age of 2.5 years from the first medical
consultation.
Immediate pharmacological interventions do not
currently exist for infants with DMD. We discussed at
the workshop the pros and cons of whether this should
not necessarily mean we also delay the age of diagnosis,
since this in turn will exclude initiation of the agreed
optimal SOC at an optimal age. [6,7]. These SOC include
the timely
intervention of physiotherapy and
glucocorticoids, proactive treatment towards psychosocial
and behavioural issues and cardiac surveillance. In a
recent publication on a large UK population of 400
DMD boys, the mean age of initiation of corticosteroids
was 6.4 years (range 3.4–9.8), confirming that a
significant number of DMD boys do not receive
treatment until the clinical symptoms are well progressed
[11]. Furthermore, there was a clear trend of better motor
milestone acquisition and maintenance at higher function
for longer in DMD boys treated earlier [11]. This trend
was further and forcefully reinforced by another recent
publication, where the initiation of corticosteroids at an
even younger age (2–4 years) was associated with
remarkably good long term outcome after a 14 years
observation period [29]. In this study, the majority of the
boys remained ambulant between the age of 16 and 18
[29]. Ongoing work to ascertain steroid treatment in
3 year olds, includes an anticipated MDA-funded clinical
trial through the Clinical Research Network. The parent
organisations agreed in the workshop to collect data on
possible additional benefits (or lack of) of steroids on
neurodevelopment in this age group. In addition, there
are several novel therapies for DMD children in clinical
trial, which if applied to infants are likely to be
particularly effective in reducing or slowing clinical
progression. These all require as much active, intact
muscle mass as possible, and include drugs which read
through nonsense codons (e.g. ataluren) [30] and RNA
therapy technology known as exon-skipping. Both
treatments restore dystrophin expression and stability of
the 6 min walk time [31,32]. There are thus additional,
novel treatments in the pipeline, ready to be administered
to an identified neonatal population. Indeed, a meeting
between DMD health professionals and the UK
regulators, European Medical Agency, in 2009 concluded
that since exon-skipping is likely to be beneficial to the
neonate population, NBS should be considered for DMD
[33]. Outcome measures for assessing clinical improvement
of treated infants are being developed as part of a
collaborative effort of the MDA-DMD Clinical Research
Network
(http://mda.org/disease/duchenn-musculardystrophy/research/special-programs) [34]. These involve
monitoring improvements in gross motor development
tests, which are impaired in this age group. This will
allow ascertainment of whether a newborn diagnosis,
followed by earlier treatment, is of better patient benefit
than the current diagnostic pathway.
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NBS programme regulators across the world, view the
lack of a ‘medical treatment suitable for neonates’ as a
major obstacle for adding DMD to their national
screening programmes. The workshop members
commented that the impression that there is no treatment
for DMD frequently comes from scientists or physicians
remote from DMD in their professional life. This widely
held belief has lead to a classification that recognises
conditions such as cystic fibrosis as ‘treatable’, but
classifies DMD as an ‘untreatable’ disease, despite there
being effective treatment options available for both [35].
In reality, the doubling in mean age of DMD survival in
the last 20 years, thanks to the implementation of
anticipatory care, amply illustrates how treatable DMD
has now become [4–7].
Health economic figures of the cost of long-term care or
of current healthcare provision at all stages of care on
DMD patients do not exist within Europe. Several
European funded projects such as BURQOL-RD
(www.burqol-rd.com, a 3 year project to generate a
model to quantify socio-economic costs and health
related quality of life for up to 10 rare diseases, including
DMD within Europe) are currently compiling such data,
from a range of sources including the parent
organisations and a study is also ongoing with the
TREAT-NMD patient registries. Once obtained, the cost
of NBS and its associated long-term care can be
compared with other diseases diagnosed by NBS, and
contrasted with their expenses when the diseases are
diagnosed in infancy.
6. Benefit and risk to the patient and families
There is a delicate balance of interest between the
parents’ and child’s welfare; the need to avoid potential
harms, including psychological, physical and social harms
by a general and mandatory screening scheme in the
families of all groups, versus the advantage for the
children of receiving early SOC, but also for the families
in whom a prompt diagnosis allows for planning and
better parenting.
In general, NBS programmes for conditions other than
DMD operate nationally and are state-run, with
recommended participation, but with the option to optout of all or any individual test offered. Countries
piloting DMD NBS programmes operate by working
alongside the state-run universal programme, providing
information during pregnancy (see below) for an
informed choice, with the option of test-specific opt-out.
A number of issues were discussed as to whether DMD
NBS should be optional. These included: the right of
families to have a choice; the importance of considering
both the best interest of the consenting parents but also
of the affected children; the benefit for the families and
the benefit for the society. In conditions in which there is
immediate and life-saving intervention, such as several
metabolic diseases for which NBS is mandatory, there is
wide acceptance that the state-run opt out programme
represents the best option for the children. Similarly,
there is no global harmonisation of how detailed the
informed consent process should be and it can even be
very variable between centres within the same country.
Therefore, not unsurprisingly, parents frequently do not
fully understand the implications of being included in a
NBS programme. However, there is also evidence that
the more active the parents’ decision is to test, the lower
the participation [1,36,37].
Workshop participants discussed at length whether
screening should be performed at birth, with the result
communicated in the newborn period or at a later stage,
and if screening should occur say 6 months after birth, to
ensure parent–child bonding had occurred. Criticisms
regarding the “early” newborn period for the
communication of the diagnosis typically focused on the
disruptions to the bonding process, due to parental stress
and anxiety, at a time conventionally thought of as a
joyous event with an apparently ‘normal’ baby. However,
quantitative and qualitative research suggests possibly
harmful psychosocial issues, or lack of bonding and
anxiety are not true or valid [27,28,35,38]. Furthermore,
there is never a good time for receiving the diagnosis of
DMD, but hearing sooner rather than later allows for the
appropriate planning of the needed financial,
reproductive and social support [39,40].
Given that parents and recently published studies report
neurocognitive delays in pre-diagnosed DMD boys (see
section 5), who are aged between 6 and 12 months, a
consideration that was discussed relates to the possibility
of implementing a mass diagnostic campaign at around
the age of 1 year, together, for example, the compulsory
vaccination programme. The advantage of this approach
is that the news regarding the diagnosis may be better
received, as the parents may already have some concerns
regarding their child’s health, and will be looking for
answers. This will ensure optimal parenting and
implementation of SOC. This approach has its
attractions, but needs to face the practicalities of starting
a complex process at a time when no other mass
diagnostic program is underway worldwide. But
alongside this fact, it should also be born in mind that
any delay in the diagnostic process will have resulted in
late genetic counselling and possibly the birth of a second
DMD child.
7. Education dissemination methods to prospective parents
and physicians
Evidence was also presented at the workshop on a
survey looking at the way different European countries
organise their neonatal screening programmes, including
information for families, timing for communication of
the test, and even policies for communication of carrier
status [41,42]. This survey highlighted a very high lack of
global harmonisation. It stressed that too often the
J.A. Ellis et al. / Neuromuscular Disorders 23 (2013) 682–689
information regarding the aims of the NBS is offered in an
incomplete fashion and too late i.e. towards the end of
pregnancy, despite recommendations that clearly indicate
this information should be provided in the first trimester.
More studies are needed to ascertain when a pregnant
mother is most receptive to knowledge and whether a
video would be more effective than a leaflet [43]. Modern
Smart-based technology would also allow information to
be conveyed through QR codes and links to Facebook
interviews of DMD parents are now possible. Another
option would be to follow the practices applied for NBS
for cystic fibrosis, where the patient organisations
additionally lobby their government to raise the disease
profile at both a national and international level. Health
care professionals also need to be updated of the early
DMD symptoms and one way to do this is through
advertising the www.childmuscleweakness.org web site,
plus publishing in journals read by primary care
physicians (e.g. BMJ, Midwifery Times, Health Visiting
Journal). Interestingly, physicians approve of diagnostic
genetic testing of at-risk children [44], but are less
supportive of expanding newborn screening to diseases
that do not satisfy the Wilson and Jungner criteria,
unless they also want to screen their own children [45].
8. The future/way forward?
While results from ongoing experimental studies using
drugs that induce exon skipping and read-through stop
codons appear to be very encouraging, and the outcome
of confirmatory phase 3 studies will be available during
the course of 2013, at the moment there is no immediate
intervention in the neonatal period that directly benefits
the affected DMD children. This fact ought to be
reflected in the range of options available to families
when considering the introduction of NBS. Given the
current status, it is likely that a NBS programme for
DMD will be introduced as voluntary screening. The
format and circumstances of such a voluntary screening
scheme need to be devised in detail, evaluated and
discussed. It is important that this is addressed sooner
rather than later since a new DMD NBS programme
recently began in Taiwan, and another is planned in
Yucatan, Mexico. It was also clear at the workshop that
the recently devised two-tiered CK/DNA NBS test for
DMD NBS should be developed for use by other
screening centres. As a first step, Jerry Mendell recently
presented the data surrounding the two-tiered CK NBS
test at the Secretary’s Advisory Committee for Heritable
Diseases in Children and Newborns, where it was well
received and he was encouraged to submit a formal
application in the future when more newborns have been
screened (the 40,000 screened in the Ohio programme is
too small to ascertain its true effectiveness). Therefore we
need to strengthen our efforts in developing a Standard
Operating Procedure for this assay, distribute it to other
screening sites across the globe, so as to assess its
687
screening efficacy on more children and across
populations. The more data we can provide to support
the Ohio programme, the better positioned the
neuromuscular community will be to successfully add
DMD to national NBS programmes.
Finally, the workshop participants recognised that the
rapid pace of DNA technologies for instigating affordable
and accurate preconception screening (DNA), foetal
screening and newborn genome screening may supersede
any devised specific enzymatic test assay, for any
newborn condition in 5–10 years time. However, genegenome screening will heighten the need for more not less
discussions, to ensure the psychological and social
welfare aspects associated with genetic screening are able
to be met.
9. Workshop participants
Kate Bushby, Newcastle, UK.
Victor Dubowitz, London, UK.
Juliet A. Ellis, London, UK.
Baziel van Engelen, ENMC Research Director, The
Netherlands.
Phillippa Farrant, Duchenne Family Support Group,
UK.
Vincent Gulmans, Cystic Fibrosis Foundation, The
Netherlands.
Cheryl Greenberg, Manitoba, Canada.
Nigel Laing, Perth, Australia.
Gerard Loeber, International Society for neonatal
screening, The Netherlands.
Michelle Lloyd-Puryear, Bethesda, USA.
Pauline McCormack, Newcastle, UK.
Jerry Mendell, Ohio, USA.
Stuart Moat, Cardiff, UK.
Francesco Muntoni, London, UK.
Anne Marie Plass, Utrecht, The Netherlands.
Christophe Rehmann-Sutter, Lubeck, Germany.
Valeria Ricotti, London, UK.
Guenter Scheuerbrandt, Breitnau, Germany.
Dominica Taruscio, Rome, Italy.
Ialina Vinci, Parent Project Onlus, Italy.
Elizabeth Vroom, Dutch Duchenne Parent Project, The
Netherlands.
Acknowledgements
This workshop was made possible thanks to the
financial support of the European Neuromuscular Centre
(ENMC) and the ENMC main sponsors: Association
Francßaise contre les Myopathies (France), Deutsche
Gesellschaft fur Muskelkranke (Germany), Muscular
Dystrophy
Campaign
(UK),
Muskelsvindfonden
(Denmark),
Prinses
Beatrix
Spierfonds
(The
Netherlands), Schweizerische Stiftung fur die Erforschung
der
Muskelkrankheiten
(Switzerland),
Telethon
Foundation (Italy), Spierziekten Nederland (The
688
J.A. Ellis et al. / Neuromuscular Disorders 23 (2013) 682–689
Netherlands)
and
Associated
member:
Finnish
Neuromuscular Association (Finland). We would also
like to offer a special thanks to the Dutch and Italian
Duchenne Parent Project and the USA Parent Project
Muscular Dystrophy who provided additional support.
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