The Selection of Outcome Measures for Peripheral Neuropathy Clinical Trials

This workshop took place from December 10th-12th, 2004 in Naarden, The Netherlands. There were 23 researchers from 5 different countries, including pharmaceutical industry-based scientists and a patient representative of the Guillain-Barré Syndrome Foundation International. The workshop was conducted under the leadership of Ingemar Merkies and Giuseppe Lauria.

There is currently no consensus regarding specific outcome measures (the instruments used to measure treatment response) to be applied in peripheral neuropathy clinical trials. The workshop aimed to address the principles underlying the choice of outcome measures in immune-mediated neuropathies (including Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, and multifocal motor neuropathy), diabetic neuropathy, hereditary neuropathies, and painful neuropathies.

The workshop participants agreed that each different disease and each intervention required individual consideration, that outcome measures should have been appropriately validated, and that safety should always be considered. The workshop participants suggested a minimum core set of domains to be tested for each disease and gave examples of outcome measures to be considered for each domain. The workshop suggested outcome measures which required comparison and diseases for which no outcome measures had been validated.


Dr. J. Arezzo, Dr. E. Bastyr, Ms. P. Blomkwist, Prof. M. Boers, Prof. D. Cornblath, Dr. D. Cros, Prof. P. Dyck, Prof. E. Feldman, Dr. T. Ho, Prof. R. Hughes, Dr. G. Lauria, Prof. J-M Leger, Dr. I. Merkies, Prof. J. McArthur, Prof. E. Nobile-Orazio, Dr. L. Padua, Dr. G. Parks, Dr. Pareyson, Dr. M. Reilly, Prof. P. van Doorn, Dr. I. Van Schaik, Prof. Vermeulen.


This workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors:

Association Française contre les Myopathies (France)

Deutsche Gesellschaft für Muskelkranke (Germany)

Telethon Foundation (Italy)

Muscular Dystrophy Campaign (UK)

Muskelvindfonden (Denmark)

Prinses Beatrix Fonds (The Netherlands)

Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland)

Österreichische Muskelforschung (Austria)

Vereniging Spierziekten Nederland (The Netherlands)


Pharmaceutical industry sponsors:

Baxter BioScience

Bayer Healthcare LLC

Eli Lilly and Company

Merck & Co., Inc.

Mitsubishi Pharma America, Inc.

Sankyo Pharma Inc.


A full report is published in Neuro Muscular Diseases. (pdf)

Kick-off meeting EUMITOCOMBAT

Seventeen participants from Belgium, Czech Republic, France, Italy, the Netherlands, Spain, Sweden and the United Kingdom met in Naarden from 12 – 14 November 2004 for the kick- off meeting of the EUMITOCOMBAT Consortium ( The EUMITOCOMBAT project is a Sixth Framework Programme Integrated Project granted by the European Commission and is entitled “Rational Treatment Strategies Combating Mitochondrial Oxidative Phosphorylation (OXPHOS) Disorders” (Contract No LSHM-CT-2004-503116).


The EUMITOCOMBAT consortium consists of 12 participating universities/instituteswith 21 scientific group leaders from 9 different European countries.EUMITOCOMBAT will combine mitochondrial research expertise into one, pan-European Consortium, aiming at an understanding of the underlying basic molecular mechanisms of OXPHOS disease and at the eventual development of treatments for these devastating disorders. The official starting date of the EUMITOCOMBAT project is the 1st July 2004 and the duration shall be 48 months.


For the kick-off meeting the Consortium Council, the Consortium Board, the Project Management Team and the Scientific and Ethical Advisory Committee were invited. Main objective of the meeting was to discuss and establish a good understanding and consensus of the scientific, non-scientific and financial organisation of the project, the deliverables for the first 18 months, demonstration and dissemination activities, and ethical aspects and guidelines of the EUMITOCOMBAT project. For this purpose also the Scientific Officer of the European Commission was present.

During the meeting general announcements were made, extensive discussion about the financial (im)possibilities took place, the private domain of the website was presented, ethical issues were discussed and short presentations of the progress of the research were given.

The participants evaluated this 130th ENMC meeting as positive and constructive.



Prof. dr. C.A. Bedate (Spain), Dr. C. Berens (Belgium), Prof. dr. R. Chadwick (United Kingdom), Dr. J.A. Enriquez (Spain), Dr. C. Gustafsson (Sweden), Dr. I. Holt (United Kingdom), Mr. W. IJsenbrandt (the Netherlands), Dr. B. Lightowlers (United Kingdom), Prof. dr. L. Palmieri (Italy), Mr. Y. Poortman (the Netherlands), Dr. A. Rötig (France), Dr. P. Rustin (France), Prof. dr. J.A.M. Smeitink (the Netherlands), Drs. H. Stroomer (the Netherlands), Dr. D.M. Turnbull (United Kingdom), Prof. dr. J. Zeman (Czech Republic), Dr. M. Zeviani (Italy).


Project Management Team EUMITOCOMBAT

University Medical Centre Nijmegen

435 – Dept. of Paediatrics

PO Box 9101

6500 HB Nijmegen

the Netherlands

Tel.: +31-24-361 91 26 / 361 94 70

Fax: +31-24-361 64 28

Randomised trials of treatment for chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy

There is uncertainty about the best treatments for two important diseases causing peripheral neuropathy: chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and multifocal motor neuropathy (MMN). Consequently, there is a wide treatment variation in practice. Under the leadership of Richard Hughes (London), Eduardo Nobile-Orazio (Milan), and Ivo van Schaik (Amsterdam), 12 experts from 6 European countries assembled at Schiphol Airport, Amsterdam on October 27th to decide on the design of trials to demonstrate the efficacy of drugs in suppressing the immune response and treating these diseases. The group considered all the candidate drugs and chose two for further consideration. Negotiations with pharmaceutical companies will now take place before making the final choice.

The essential elements of the protocols for two randomised trials were debated and agreed upon. The trials will use change in disability as their primary outcome measures. The scales to be used will include a simple overall disability scale used by the workshop attendees in previous trials, and a new disability scale which has been developed at the University of Amsterdam and promises to reflect the problems experienced by patients more precisely. Health economic measures will be collected to allow assessment of the cost-effectiveness of the new drugs. The trials will take into account the rigorous new regulatory requirements of the EU Clinical Trial Directive which came into force in May 2004.

The professional experts wish to acknowledge the help of Ms. Patricia Blomkwist of the Dutch Guillain-Barré syndrome support group who represented the patients’ interests at the meeting. After one more workshop to consider the outcome measures in more detail in December 2004, the workshop members will submit a formal grant proposal to a major national research council with a view to starting trials in early 2006.

Click here to read the full report of this workshop as published has been published in Neuromuscular Disorders.


Antisense Oligonucleotides in Duchenne Muscular Dystrophy

Twenty-four participants from 6 countries (Australia; Belgium; France; The Netherlands; UK and USA) attended an ENMC workshop on the topic of “Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy”.

Duchenne muscular dystrophy (DMD) is a severe muscle wasting condition with onset in early childhood, progressive disability and reduced life expectancy. It is caused by errors in the DMD gene that lead to the failure to produce an essential muscle protein called dystrophin. Most of these errors are deletions, i.e. a portion of the gene is missing. Recent laboratory studies have shown that the addition of small molecules named antisense oligonucleotides to cultured patient muscle cells, and their injection into muscles of a mouse model for the disease can restore the production of the protein dystrophin. Although this is a temporary effect, it improved the structure of the patient cells and mouse muscle. It is therefore hoped that a similar approach, if effective in people, would also be able to slow down disease progression in DMD.

A number of groups are now going to take these observations into clinical trials. In particular 2 European groups, one in the Netherlands and one in the United Kingdom, are planning to perform trials in individuals with DMD to assess if this approach is safe; and if dystrophin production can be restored in a single injected human muscle. Additional laboratory studies are also ongoing as part of the research plan to improve the possibility of future systemic delivery of the antisense oligonucleotides (for example intravenously) instead of direct injections into muscle, as this is the kind of route that would be more clinically useful.

The scope of this workshop was therefore for these two European groups to discuss in detail the procedures that will be followed in the two planned trials so that efforts could be combined in order to maximize the information obtained. In addition the workshop was attended by experts in this field from other countries, and by experts in related fields who had previous experience of using antisense oligonucleotides to treat other disorders.

As with the development of any new drug, ensuring that the product is going to be safe at the dose that will need to be used is a very important issue, and one that cannot be rushed. However, collaborative strategies to tackle several practical and regulatory aspects related to the two planned trials were discussed in order to ensure that both groups could move forward together. Sharing the burden and insights of the extensive safety and efficacy testing of the reagents will mean that the trials can be completed sooner, and plans to share data generated in the two studies means that the results will be optimally comparable between the two groups. All parties also agreed to form an International Consortium on Antisense Oligonucleotides in Duchenne muscular dystrophy. The need for good and standardized patient information about the planned study was highlighted, and this will be developed and disseminated via the ENMC website.

An extended report of this meeting has been published in Neuromuscular Disorders.You can access the publication by clicking on the following link here.

Prof. Francesco Muntoni1, Prof. Kate Bushby1 and Prof. Gertjan van Ommen2; UK1and The Netherlands2.


Implementation of European Registry of ALS

Aim of the meeting

The aim of the meeting was to implement a database for the collection of relevant prospective information on patients with amyotrophic lateral sclerosis (ALS) from the participating countries. The data collection will be performed pursuing two major objectives: 1. To recruit a large population-based sample of patients with ALS, obtained by merging the information collected by the existing national and regional registries from Italy, Ireland, England, and Scotland; 2. To collect baseline information on newly diagnosed patients from Spain, Serbia, and other countries where population-based registries are not yet available, to be eventually recruited for observational studies and therapeutic trials.

Inclusion criteria, diagnosis and phenotype

Every patient to be registered should present upper and/or lower motor-neuron impairment in at least one region and retrospective evidence of progression within the antecedent six months. Eligible patients must then be classified according to the El-Escorial diagnostic criteria and characterized according to selected demographic (age, gender, ethnicity, marital status) and clinical variables (bulbar vs spinal onset, BMI), to be used to identify distinct phenotypes. In addition, cognitive decline should be mentioned when present and classified according to the most recent criteria for fronto-temporal dementia.

Data to be included in the database and modalities of data collection

A number of core variables have been included to outline the principal demographic and clinical characteristics of the patients along with the features required to define the level of diagnostic certainty (definite, probable, possible, suspected ALS), the and the disability level. A list has been also included of the biological material (CSF, blood, nerve & muscle biopsy, autopsy). The database will be accompanied by a guide which will explain in simple terms the modalities of collection of each variable. The structure of the database consents storage and retrieval of any information subjected to change or to variable interpretations. Any change will be saved along with the date of change. The variables subjected to time-dependent changes (eg, El Escorial categories) will be recorded with the presumed date of change.

The modalities of data collection will be tested with the first cases to be registered.

Confidentiality and privacy issues, data property, dissemination of information

Confidentiality and privacy will be preserved adopting the following measures: 1. Providing each patient with crypted codes; 2. Obtaining an informed consent from patients; 3. Writing a newsletter to be periodically disseminated through the web; 4. Identifying a strict number of persons who are entitled to have access to the database and examine the individual patient data; 5. Adopting severe measures to prevent access to data by non-authorized persons.

A Steering Committee has been formally elected, represented by the coordinators of the existing registries (Beghi, chairman; Chiò, Hardiman, Logroscino, Mitchell, Swingler), by a statistician (to be appointed) and by a genetic epidemiologist (Traynor). Other persons have been included in the European registry as members (Esteban, Stevic). A data processor has been also identified (Millul) who will verify the completeness and the quality of the recorded information and who will monitor the registration procedure. The members of the steering committee will have access to the recorded data and will exert a control on every scientific product prepared as a group by the EURALS members. Individual members may disseminate their national data with proper disclosures. The entire procedure for the activation of the European registry will conform to the EU directives.

Validation of the quality of data registration

Provided that every participating country may adopt differing strategies for case ascertainment (which depend on the peculiarity of the national or local health care system) and that the similarity in the incidence rates is indirect evidence of an almost complete case identification, a strategy must be adopted to test the reliability of data registration. Accordingly, each national controller will undergo a validation process. The clinical information obtained from a number of cases to be registered will be transferred by the caring neurologist to an ad-hoc semi-structured form to be used by each controller to transfer the information into the database. The latter data will serve as the basis to test inter-rater reliability.

Case-control study

A population-based case-control study will be the first research project of the members of the EURALS. The principal aim of the study will be to test the hypothesis that sustained physical activity in susceptible, whether or not associated with enduring/professional sports and/or trauma, is a risk factor for ALS. This hypothesis will imply the identification of genetic susceptibility through DNA sampling and correct quantification of physical activity (using standardized quantitation of metabolic units). Enduring/professional sports will be noted as such and accompanied by years of activity. Trauma will be registered only if leading to medical intervention with indication of any eventual complication. A 1:2 case-control ratio will be selected. Cases and controls will be age and sex-matched. The study design will be defined in a written protocol, which will be prepared in the next months and submitted for publication in a scientific journal.

Other group activities

They will include parallel studies and methodological reports. The parallel studies (to be defined according to specific protocols) will include twin studies, a systematic review of the major risk factors for ALS, and a study of the correlation between ALS and selected occupational exposures. The study protocols will be submitted to funding agencies (E.U., N.I.H.) and private institutions as grant proposals in the next few months.

Prof. E. Beghi

Meeting attendants: Ettore Beghi (Italy, chairman), Adriano Chiò (Italy), Giancarlo Logroscino (U.S.A., Italy), Orla Hardiman (Ireland), Elena Herrero Hernandez (Italy), Maurizio Leone (Italy), Andrea Millul (Italy), Douglas Mitchell (England), Jesus Esteban & Teresa Salas (Spain), Zorica Stevic (Serbia), Robert Swingler (Scotland), Bryan Traynor (U.S.A., Ireland)

A full report of this meeting is published in Neuro Muscular Diseases. (pdf)

Congenital Myasthenic Syndromes

The ENMC hosted a group of experts on Congenital Myasthenic Syndromes (CMS). CMS are inherited disorders in which the safety margin of the neuromuscular transmission is compromised by one or more specific mechanism(s). CMS are caused by various genetic defects. To date, genes known to cause CMS if mutated are the presynaptic choline-acetyl-transferase gene CHAT, the gene COLQ encoding the synaptic protein ColQ, the genes encoding the different subunits of the postsynaptic acetylcholine receptor (CHRNA1, CHRNB1, CHRND, CHRNE), the genes for the postsynaptic protein rapsyn (RAPSN) and the postsynaptic sodium channel (SCNA4). Since the last ENMC workshop on CMS in October 1999, three novel CMS genes have been identified, namely CHAT, RAPSN and SCNA4. As a consequence, several new patients presenting with varying phenotypes of CMS have been described worldwide. In particular, mutations in RAPSN and CHAT turned out to be of high clinical relevance, on one hand because of their apparent worldwide frequency, on the other hand because of their specific clinical phenotype with the occurrence of sudden apnoeas. Furthermore, considerable progress has been made using a variety of approaches towards understanding CMS. The workshop was attended by 17 participants from 7 countries (France, Germany, Italy, Switzerland, The Netherlands, United Kingdom, U.S.A.). Participants included geneticists, neurologists, paediatric neurologists and neuroscientists. Agreement was reached on the usefulness of coordinated research into genetic causes of CMS, phenotype-genotype correlations, and therapy for patients.

For access to the full workshop report published in Neuromuscular Disorders (Vol. 15 No. 7) please click here.

Prof. David Beeson (UK)
Prof. Daniel Hantaï (France)
Prof. Hanns Lochmüller (Germany)


Neuromuscular disorders in gypsies

The ENMC hosted a group of experts on neuromuscular disorders in Gypsies. 8-10 Million Gypsies (Roma) live across Europe with largest numbers in Eastern Europe (Bulgaria, Hungary, Romania). This was the second Workshop on “Neuromuscular Disorders in Gypsies” based on the results of the first (91th ENMC) which led to coordinated research and the identification of gene defects, specific to this population. The main aim of the Workshop was to discuss population genetics and epidemiology of the Roma people, genotype-phenotype correlations of 5 different Roma disorders (hereditary motor sensory neuropathy type Lom, hereditary motor sensory neuropathy type Russe, congenital cataracts facial dysmorphism neuropathy syndrome, congenital myasthenic syndrome, hereditary inclusion body myopathy), phenotypes and genetics of several disorders with so far unidentified gene defect, and further coordinated research. The Workshop was attended by 20 participants from 14 countries (Australia, Austria, Bulgaria, Hungary, France, Germany, Italy, Japan, Portugal, Spain, The Netherlands, Turkey, United Kingdom and Yugoslavia). Participants included geneticists, neurologists, pediatricians, and an ophthalmologist. Agreement was reached on coordinated research into genetic causes of neuromuscular disorders in gypsies, phenotype-genotype correlations, and measures to improve health care in gypsy populations across Europe. This will be facilitated by a website open to participants of the workshop and by central, diagnostic services to be established.

An extended report of this meeting will be submitted for publication in Neuromuscular Disorders. Please click here for access to the extended report.

Prof. Luba Kalaydjieva (Australia)
Prof. Luciano Merlini (Italy)
Prof. Hanns Lochmüller (Germany)


Treatment of Duchenne Muscular Dystrophy

35 participants representing parents, funding agencies and clinicians involved in the care of children with DMD from Belgium, Canada, Denmark, Finland, France, Germany, Italy, the Netherlands, Spain, Sweden, the UK and the USA met in Naarden from 2nd – 4th April 2004.
The meeting was held under the auspices of the ENMC Clinical Trials Network, and with the additional support of the United Parent Project. The aims of the workshop were to define the need for clinical trials in Duchenne Muscular Dystrophy (DMD) and develop a protocol for such trials, relating primarily to the use of steroids (prednisolone, prednisone and deflazacort) in DMD. The meeting heard that a major worry for parents is the lack of availability of steroids at all in some countries, the multiplicity of steroid regimes used and the problems of getting firm information about which type of steroid or which regime for using steroids was best.
This was reflected in the variation in practise amongst the participants at the Workshop, some of whom did not use steroids at all, and between the rest there were at least seven different regimes for giving steroids.

The meeting was divided into three parts. First, the evidence for the use of steroids in DMD was considered. Second, the meeting split into small groups for the development of various aspects of a protocol that could be used for a trial of steroids or for the monitoring of their use in clinical practice, and third a strategy to develop and fund a trial or trials in DMD were considered.

There can no longer be any doubt that use of steroids in ambulant children with DMD alters the natural history of the condition. Children treated with daily steroids are likely to walk for longer, have improved respiratory function, may avoid the need for spinal surgery and might have better heart function than untreated children. Benefits of starting steroids in children who have already lost ambulation are not yet established. The two main types of steroid used (prednisone/ prednisolone and deflazacort) appear to be equally effective.

Side effects seen with the long term use of steroids in DMD use include weight gain, (which may be less prominent using deflazacort) loss of height, asymptomatic cataracts (with deflazacort predominantly) and thinning and possibly fractures of the bones. Nonetheless, many centres have used daily steroids for many years, and ways to help to avoid or treat many of these side effects are available.

There are alternative ways to use steroids to try and minimise the side effects. These include giving a lower dose, or using steroids in an intermittent way (on alternate days, for periods such as 10 days on and 10 days off, or at the weekends only). The rationale behind using these other regimes is to give the body a rest from steroids at times, and/or with some but not all of the regimes to give a lower overall dose.
People using all of these different regimes report that they have a positive effect in improving strength and function in DMD. However none of them have been tested formally against daily steroids to see if there is a difference in how effective they are and what the actual level of reduction in side effects is.

It was agreed steroids are the gold standard of treatment in DMD against which other treatments should be judged. To provide answers on the relative merits of the different regimes a trial is needed to look at the efficacy and side effects of a range of regimes compared to daily steroid over a long period of time. Protocols were discussed that would allow differences in strength and function to be picked up and that would monitor for side effects while also trying to prevent them as much as possible. It was felt to be very important to monitor effects on quality of life as well as muscle strength and function. Alongside testing different steroid regimes, the ideal trial would also look at the best way to prevent the development of heart problems and protection of bone strength. As this trial will need to recruit large numbers of patients, a multinational effort will be required and different national funding agencies are likely to be involved.

In advance of this trial, it was felt that it would be useful to develop some basic advice about the monitoring and management of possible side effects of steroids in DMD. Problems with bone density and weight are two of the major concerns as children with DMD can have problems in these areas even without steroids. For example, even young children with DMD may have bones which are less strong than normal. This is believed to be because they are less active than other children. Exercise helps bones to grow strong, so boys with DMD should be encouraged to be active. It is also important for growing bones to have proper levels of vitamin D and calcium. The best way to achieve this is by diet and sunshine- supplements are not as well absorbed. Because of their weaker bones, boys with DMD may have a higher risk of breaking their bones, but they heal normally. It is though important that broken bones are treated with as short periods of immobilisation as possible.

Using steroids in DMD has multiple effects on bones. Increased strength leads to more exercise and can strengthen the bones. However, steroids are known to have a bone weakening effect and this may become more prominent with long term use. Again, diet and sunshine are currently the best way to try and prevent problems. Broken limbs in steroid treated boys can be treated the same way as boys not on steroids. In long term use of steroids some people have seen weakening or compression of the back bones and this can rarely cause pain, though it can be treated. The issue of prophylaxis for these problems will be the topic of further trials.

Weight is another worry for people using steroids. Boys with DMD sometimes have a tendency to too much weight gain. This may partly relate to their lower levels of activity. So the tendency to gain weight can be most when activity is declining. In itself, of course, increased weight can also make walking more difficult. Sweets and fast foods are best avoided where possible. Alternatives to these kinds of treats are available, and low fat or low calorie alternatives to many foods can be easily obtained. The need to control weight is even more important in children with DMD treated with steroids. Appetite increases immediately in many people who take steroids, and the family needs to be ready for that. The highest risk of weight gain on starting steroids is in the first few months so if particular attention can be paid to healthy eating at this stage and continued with the steroid treatment, problems may be less. Additional diet issues for children on steroids include adequate calcium and vitamin D.

Further patient information material will be prepared and disseminated.

During this workshop it was decided to generate information for parents and clinicians on the use of steroids in DMD and monitoring processes for efficacy and side effects. The current version of this information is available via this link.

Steroids and Duchenne Muscular Dystrophy (DMD) – some questions and answers

This workshop was organised by Prof. Kate Bushby (UK), Prof. Francesco Muntoni (United Kingdom), Prof. Andoni Urtizberea (France), Prof. Richard Hughes (United Kingdom) and Prof. Robert Griggs (U.S.A.).

Other participants were:
Dr. Anna Ambrosini (Italy), Dr. Anne d’Andon (France), Prof. Corrado Angelini (Italy), Dr. Carole Bérard (France), Dr. Enrico Bertini (Italy), Dr. Doug Biggar (Canada), Dr. John Bourke (United Kingdom), Dr. Jaume Colomer (Spain), Prof. Denis Duboc (France), Prof. Victor Dubowitz (United Kingdom), Dr. Michelle Eagle (United Kingdom), Prof. Brigitte Estournet (France), Dr. Kevin Flanigan (U.S.A.), Dr. Patricia Furlong (U.S.A.), Dr. Nathalie Goemans (Belgium), Dr. Imelda de Groot (The Netherlands), Dr. Sharon Hesterlee (U.S.A), Dr. Anneke van der Kooi (The Netherlands), Prof. Rudolf Korinthenberg (Germany), Dr. Adnan Manzur (United Kingdom), Dr. Richard Moxley (U.S.A.), Prof. Giovanni Nigro (Italy), Dr. Helena Pihko (Finland), Dr. Michael Rose (United Kingdom), Dr. Thomas Sejersen (Sweden), Ms. Birgit Steffensen (Denmark), Dr. Tony Swan (United Kingdom), Dr. Marcello Villanova (Italy), Ms. Elizabeth Vroom (The Netherlands) and Dr. Maggie Walter (Germany).

An extended report of this meeting has been published in Neuromuscular Disorders. You can access the report by clicking here.

Management and therapy of myotonic dystrophy (II)

The ENMC hosted a group of experts on myotonic dystrophy. This was the second Workshop based on the results of the first (99th ENMC International Workshop) which led to the publication of the book: “Myotonic dystrophy, present management, future therapy ” (2004). The main aim of the Workshop was to discuss outcome measures, and symptomatic treatment in myotonic dystrophy to enable international collaboration on management and treatment. The Workshop was attended by 22 participants form 11 countries (Belgium, Canada, Finland, France, Italy, Japan The Netherlands, Russia, Sweden, United Kingdom and U.S.A.). Participants included geneticists, neurologists, occupational therapists, a clinical trial coordinator, and a patient representative. Agreement was reached on a core set of outcome measures in the outpatient clinical setting, to be developed as computerized facility. Quality of life aspects of myotonic dystrophy were presented. Symptomatic management was discussed for somnolence, gastrointestinal features, behavioural problems in childhood, and cardiac symptoms. Results from various centres demonstrated that most patients were not seen once a year. A study showed a patient-held care card improved their care. Encouraging results from Japanese and American pharmacological trials were presented. The Workshop decided to create a website and discussion board to facilitate communication, and to propose a systematic Cochrane review on muscle weakness, atrophy and symptomatic treatment in DM1.

An extended report of this meeting has been published in Neuromuscular Disorders. Please click here to access the full report.

Prof. Baziel van Engelen (The Netherlands)
Prof. Bruno Eymard (France)
Dr. Douglas Wilcox (United Kingdom)