CHRISTMAS CDG NEWSLETTER (2011)

EDITORIAL September, October and November

were particularly busy months on a CDG advocate point of view and at the European policy front, as you will see from this newsletter.

First, the Commission launched “HORIZON 2020”, the ambitious successor of its present research programmes with plans to allocate EUR 70 billion for research from 2014 to 2020.

Second, a third International Rare Disease Research Consortium (IRDiRC) meeting was organized on 8-9 October 2011 in Montreal (Canada). At the meeting, the IRDiRC Interim Executive Committee agreed on a draft governance document that can be found in the following link: http://ec.europa.eu/research/health/medical-research/rare-diseases/irdirc_en.html).

Third, many awareness and dissemination tools have been implemented during 2011 by different CDG patients’ communities worldwide.

The CDG store a project, the fairy tale “The Glycoland and the coloured antennas”, the CDG ONLINE COMMUNITY, the CDG united facebook group, and many others.

Finally, it is very encouraging to see

that the CDG patient’s voice is growing! The French CDG organization is welcome to our big family!

I hope you will enjoy this newsletter

with such clear focus on CDG families’ developments at the International level.

On behalf of the CDG families, I wish

you a peaceful festive period and a Happy New Year!

Vanessa Ferreira

CDG AT THE EUROPEAN LEVEL

29 November: CDG patient representatives attend EMA training

On 29 November, CDG patient representatives, Sandra Pereira Pinto and Vanessa

Ferreira (both from the Spanish and Portuguese CDG Associations) attended a training day at the EUROPEAN MEDICINES AGENCY (EMA) in London. The training introduced delegates to EMA with the goal of allowing them to become “experts” in the preparation of European Public Assessment Reports (EPAR) and Patient Information Leaflets (PIL). The EPAR is a full scientific assessment report for every medicine granted a central marketing authorisation by the European Commission.

CDG Patient representative participated in the EURORDIS reflection paper about priorities and needs for rare disease research

This paper outlined the priorities for rare disease research (RDR). On behalf of patients affected by rare diseases in Europe, EURORDIS urges public decision-makers to take stance in advancing rare disease research on the eve of the adoption of the 8th EU Research Framework Programme 2014–2020 and the National Plans or Strategies on Rare Diseases, which European governments are engaged to adopt prior to 2013.

The CDG patient voice contributed with several ideas, such as the importance of patient registries. Although one of the most relevant suggestion is related with the participation of families affected by the disease in the panel that reviews grant applications. From our point of view families will not comment on the scientific adequacy of the methodology proposed, but rather center on the nature of the topic being investigated, and will contribute with their experience of living with CDG and with the knowledge about the needs of patients.

From our point of view, applicants must write their proposals in a way to be easily understood by all members of the panel.

For more information:

http://www.eurordis.org/sites/default/files/publications/what_how%20_are_disease_research_0.pdf

CDG NETWORKING

Glycosciences Conference (8-10 September), Lisboa, Portugal.

This meeting marked the International Year of Chemistry in Glycosciences and it was a

Forum of discussion and expertise in the field. The scientific program has been put together to present advances and the state of the art in a variety of fields concentrating on specific diseases, namely cancer and diabetes, biomedical applications, biological processes including host pathogen interactions, modulation of biological responses and glycans in cell communication, vaccines and therapy. This workshop aimed to foster collaboration between disciplines and generations, bringing together experts in Glycosciences, invited from across Europe.

The CDG Portuguese association (APCDG-DMR) participated in a Round table in which it was highlighted the importance of research and the role of patients organizations in the CDG field.

Inborn Errors of Metabolism and Neurodegeneration (3-5 November), Porto, Portugal.

The Sociedade Portuguesa de Doenças Metabólicas (SPDM), organised the VIII Annual

Symposium of SPDM, helded in Oporto, Portugal, from 3 to 4 November 2011. The scientific programme under the topic “Inherited Metabolic Diseases and Neurodegeneration - New Perspectives” was focused mainly on the mechanisms of neuropathology, diagnosis, new therapeutic and research approaches in inherited metabolic diseases. This year, the First Luso-Brazilian and Other Countries of Portuguese Language Meeting took place on 5 November. The programme for this one-day meeting was addressing diagnosis and treatment strategies.

There were two talks related to CDG: Congenital disorders of glycosylation (CDG) and the neuromuscular system – J. Jaeken,

Leuven Exome sequencing will change our life – R. Wevers, Nijmegen The CDG patient voice had a poster presentation in which presented seeral actions

implemented by the organization like: coordination and organization of various scientific and medical communication activities, collaboration with the www.guiametabolica.org (a powerful and interactive 2.0 network targeted to families affected by inborn metabolic diseases); to support research, to disseminate information for families, clinicians and researchers, to enhance understanding and awareness, to offer platforms to develop patients’ supporting groups, and to advocate for better quality of life for patients and their families. Finally, there was an area dedicated to associations, which allowed us to expose several awareness and dissemination tools related to CDG and other Rare Metabolic Diseases.

On the left, the poster “EMPOWERMENT OF CONGENITAL DIDORDERS OF GLYCOSYLATION (CDG) PATIENTS VOICE” and on the right several awareness and dissemination tools related to CDG and other Rare Metabolic Diseases that have been exposed and distributed during the conference.

CDG will attend the 7th joint Workshop Patients Network for Medical Research and Health (EGAN) and Roche

“From Research to Clinical Practice”

Basel, 13-14 January, 2011

The Patients Network for Medical Research and Health EGAN is an alliance of both National Genetic Alliances and European disease specific patient organisations with a special interest in genetics, genomics and biotechnology. Especially, but not only, genetic disorders are represented within EGAN.

EGAN is working for a voice in research and health policy and seeks a world in which genetic ond other serious diseases are understood, effectively treated, prevented and the people affected supported.

With the 7th joint Workshop, EGAN and Roche continue their productive and constructive cooperation and give again a prime example demonstrating how patient advocacy groups and industry can efficiently cooperate and contribute to promote health. Participants from academia, patient organizations, health authorities and industry will attend in 2012 to the “From research to Clinical Practice Workshop” to discuss topics of common interest and develop strategies and recommendations aiming to serve as a basis for further actions.

“I Luso-Hispanic CDG Conference” (21-23 October), Barcelona, Spain

The “I LUSO HISPANIC CDG MEETING” was a success! A FAIRY-TALE, “The Glycoland

and the coloured antennas” was done in honor of Professor Jaeken by Dr Belén Pérez Dueñas, Dr Mercedes Serrano, Dr Paz Briones and Dr Maria Antonia. The Spanish and Portuguese CDG associations were involved in the coordination of the translations. This book it is available in 9 languages: Spanish, English, Portuguese, German, Italian, Greek, French, Gallego and Catalan. Soon it will be in Flemish!

Furthermore, this meeting potentiated scientific collaborations between

different groups and the fairy tale will be represented in several libraries in Barcelona and Lisbon. For more information about the meeting: In Spanish:

http://www.guiametabolica.org/noticia-articulo/el-i-encuentro-luso-iberico-de-los-defectos-congenitos-de-la-glicosilacion-homenaje?enfermedad=414

In French: http://www.lesptitscdg.org/2011/10/cr-colloque-cdg-syndrome-barcelone/

CDG AWARENESS AND DISSEMINATION

RareConnect: CDG Online Rare Disease Communities

http://www.rarediseasecommunities.org/en/community/cdg

The project began when in 2010, EURORDIS and NORD formed a transatlantic, patient-

driven strategic alliance for rare diseases, to bring patient advocates from Europe and the United States together to promote rare diseases as an international public health priority. The partnership’s first actions have included RareConnect and encouraging cooperation amongst member organisations.

RareConnect, the Rare Disease Communities project, is a 5-language platform that now

covers 14 rare disease specific communities.Communities are created by dedicated patient organizations and even when no formal patient group exists, volunteers from Netherlands, Brasil, Equador and other countries had the opportunity to share their story with an international audience.

The forums feature a hugely interesting feature which is an on-demand human

translation service allowing visitors to the site to request translations across all possible combinations of the French, Spanish, Italian, English, and German languages.

The translation is completed within 3-5 hours on average and automatically published in the forum whereupon an alert is sent to the visitor who requested it. Thus there is not a language barrier.

On behalf of CDG families I want to express, again our gratitude to all of the

Researchers and Medical Doctors who participated: Dr. Hudson Freeze, Dr. Pascale de Lonlay, Dr. Dirk Lefeber, Dr. Nathalie Seta, Dr. Eva Morava, Dr. Paz Briones, Dr. Gert Matthijs, Dr. Maria Antonia Vilaseca, Dr. Mercedes Serrano, Dr. Paula Videira… THANK YOU!

Finally, we would like to express our special thanks to both Professor Jaeken and to Professor Donna Krasnewich for their unconditional support, participation and suggestions.

The CDG ONLINE COMMUNITY is an online social network for patients & caregivers living with a rare disorder, to enable sharing of experiences and access to quality information across diseases and symptoms.

“Portuguese communication and dissemination activities about Rare Metabolic Diseases” in collaboration with the Metabolic Department from the Hospital Sant

Joan de Déu, Barcelona, Spain.

In collaboration 34 healthcare professionals from Portugal, 5 Fairy tales and 57

leaflets related to different Rare Metabolic Diseases have been translated to Portuguese and soon will be available in the Guia Metabólica webpage.

Practical guide targeted to CDG families in collaboration with several CDG experts.

The Practical guide targeted to CDG families is available in spanish and in English

and portuguese (both under revision). The majority of the speakers that participated in the “I LUSO HISPANIC CDG MEETING”, and other collaborators, were strongly engaged in the elaboration of this Guide! We are deeply grateful.. It is available in the webpage for the guia metabólica

(http://www.guiametabolica.org/subhome-enfermedad/414).

The Royal Society of Chemistry invited the Portuguese CDG Association to write the chapter of the book dedicated to Carbohydrates in Europe (Vol 38)

The chapter will focus in presenting the latest findings and the innovation in Europe

concerning carbohydrates chemistry and biology. In our case, the contribution will be focus on Congenital Disorders of Glycosylation. The book will be launch at the 26th International Carbohydrate Symposium (ICS2012) in Madrid, Spain, from July 22nd to 27th, 2012.

CDG Community Store http://www.cafepress.com/CDG_Community

A project implement by Andrea Berarducci from the CDG Family Network USA, in

which the main goal is to help spreading awareness related to CDG! All prices are based at cost and there are no profits made through the sale of this merchandise.

http://www.cafepress.com/CDG_Community

CDG IN THE MEDIA

http://www.eurordis.org/content/living-cdg-two-stories-one-shared-hope

http://neurologia.publicacionmedica.com/noticia/todavia-hay-muchos-

horizontes-por-conquistar-en-los-dcg

http://www.guiametabolica.org/sites/default/files/interview_jaak_jaeken_CDG.

pdf

http://escritorio.acceso.com/bioregio/prensa/

CDG PATIENT’S VOICE IS GROWING:

WELCOME TO THE FRENCH CDG ASSOCIATION!

Rachel Levillain (on the left) is the president for the French CDG organization. She is a

dynamic and very active mother of 3 CDG children! Several members from this organization attended the “I LUSO HISPANIC CDG

MEETING” and we established collaborations in order to boost CDG awareness and dissemination.

Thanks for sharing your interest and future plans with us! For more information: http://www.lesptitscdg.org/

FUTURE CONFERENCES

“From Research to Clinical Practice”, Basel, 13-14 January, 2011 VII International Conference on Rare Diseases and Orphan Drugs (ICORD),4-6

February,2012,Tokyo, Japan. International Congress on Research of Rare and Orphan Diseases, 29 February - 2

March, 2012 in Basel, Switzerland The 6th European Conference on Rare Diseases and Orphan Products (ECRD

2012) will be held on 23 – 25 May 2012 at the MCE Conference Centre in Brussels, Belgium.

European Human Genetics Conference 2012

,23-26,June,2012 in Nurnberg, Germany The CDG Family Network USA is organizing the family conference in Chicago in June

2012. 26th International Carbohydrate Symposium (ICS2012) in Madrid, Spain, from

July 22nd to 27th, 2012.

Christmas Message

On behalf of CDG families we wish you a Merry Christmas and a Happy New Year!