International Federation of Marfan Syndrome Organizations (IFMSO) E-Newsletter
Vol. 5, No. 2, July, 2010

Table of Contents

Editor's Report
8th International Marfan Sympoisum
Revised Nosology
EURORDIS - European "Patients" Survey
E-Mails
Marfan Newsletters
Memorials

Editor's Report

This is going to be a big year. Things are moving very fast both in the Marfan membership organizational world and in the research community. The Marfan organizations throughout the world are meeting regularly updating their membership about the Losartan clinical trial and an important study being conducted on the comparison of valve sparing and the composite graft as surgical responses to aortic and cardiovascular dissections in the Marfan patient. The European Marfan Support Network (EMSN) will be meeting in September, and the International Research Symposium on the Marfan Syndrome will be held in the United States this year, also in September. This poses choices for everyone. Fortunately this modern age helps to make information from these meetings available to everyone, both in written form and perhaps now the option of CDs and even videos of the meetings. Certainly, as well, there will be written reports that can be circulated to all involved and interested.

International Research Symposium

I look forward to watching the International Research Symposium in some electronic form, since it will be the first International Marfan Symposium that I will not be able to attend in person. But modern technology has made possible the possibility of both watching and listening, and even participating in meeting held in far away settings. It should not be too expensive to provide this sort of communication. Certainly interactive meetings are something to be considered and utilized, possibly, in this and in future meetings.

I have been sending out a series of memos to the IFMSO members organizations to alert them to the 8th International Research Symposium on the Marfan Syndrome, held at the Airlie Center, in Warrenton, Virginia in the United States,on September 11 - 14, 2010. This meeting should prove to be beneficial to all, and full of promise in understanding the complexities of MFS and its wide-ranging manifestations. Anyone who is familiar with the early research symposia can appreciate the accomplishments of the past 20 years and how research has improved the lives of all those affected, in all areas - surgical, therapeutic options, and over-all care and diagnosis. We, both those affected personally and their families who love and care for them, have a lot to be grateful for, and even a lot more to look forward to. Anyone interested receiving information about the meeting or in attending this meeting should contact Dr. Josephine Grima, (NMF Research Director) at the National Marfan Foundation, (jgrima@marfan.org .)

Previous International Research Symposium on the Marfan Syndrome:

1988 Baltimore Maryland, USA
1992 San Francisco, California, USA
Formation of the International Federation of Marfan Syndrome
Organizations
1993 Berlin, Germany
1996 Davos, Switzerland
1997 Helsinki, Finland
2001 Seattle, Washington, USA
2005 Ghent, Belgium

Priscilla Ciccariello, Editor/President, IFMSO

Eurordis Survey: Research Study on the Value and Role of
Patient Organizations in Europe

Just how have the "Patient" organizations influenced research and support for their membership? This Eurordis Survey helps us to understand the value of these organizations.

November 2009. The IFMSO participated in the survey as a representative of the rare disorder, the Marfan syndrome, through out the world. Eurordis, a coalition of European Rare Diseases Patient Groups, could be equated with the National Organizations of Rare Disorders (NORD), or the Genetic Alliance in the United States. The survey serves to document what we already suspect. That patient groups play a vital role in support of, and collaboration with, research on rare disorders throughout the world. A survey of this type helps to provide a unified picture of the activities undertaken by the many patient's groups - in this case - Europe, which in turn, illustrates the desperate need for services and medical research on these often rare disorders, which in the aggregate represent many millions of people.

This is an important survey, which focuses on the "patient" support groups throughout Europe, which of course exist in many countries, and serve to provide a means of influencing research priorities and a focus on human needs and suffering. I have received permission to print out the results in the following summary report. This report can also be accessed from the Eurordis web site in the 6 languages of the survey on: http://download.eurordis.org/documents/xis/research-survey-2010-Results6languages.xis

EURORDIS Survey on
"European Rare Disease Patient Groups in Research:
current role and priorities for the future"

Conducted by the European Organisation for Rare Diseases (EURORDIS) between October and November 2009 this survey aimed to find out and bring to the forefront, in what ways and to what extent, patient organisations support research. The survey was designed to find out which are the research areas that should be given priority to, from the patient's perspective.
The results of this survey will help to acknowledge the role of patient organisations in research, and will contribute to shaping the future research agenda of the European Union. The results will also help national patient alliances advocate for more and better research for rare diseases at the national level.
772 rare disease patient organisations received an invitation to fill out the on-line questionnaire, which was available in 6 languages (EN, FR, DE, IT, ES, HU)
EURORDIS received 309 valid responses from members and non-members (40% response rate); representing 110 rare diseases and 1.3 million patients in 29 European countries.
This work was undertaken in collaboration with the Centre de Sociologie de l'Innovation (Ecole des Mines, Paris, France)

Key findings:
· Patient Organisations (POs) show a high interest for research
· POs have a high commitment to research despite great differences in terms of number of members and budget
· POs show strong will to collaborate with researchers, not only by triggering encounters between clinicians, researchers and patients, but also by giving them logistical and financial support
· POs in Europe have devoted a total minimum of 13 million euro to research last year (not including funding from the Association Française contre les Myopathies - AFM - which gives on average 60 million euro to research every year)

PATIENTS FUND RESEARCH
· 37% of POs funded research in the last 5 years
· Amongst them, half spend more than 30 000 euro yearly and one quarter spends more than 112 000 euro a year
· Some devote more than 100% of their budget, which means they organise fundraisers specifically for research
· POs who are 10 years or older spent about half of their budget on research.
Amongst those POs who funded research:
· 70% had not only funded a specific research project but had also initiated it.
· 75% had helped fund the operating budget of a research project.
· 54% bought equipment and 47% had granted fellowships for young researchers

WHAT KIND OF RESEARCH DO PATIENTS FUND?
· POs fund mostly basic research.
· Patients are naturally interested in all areas of research since they are concerned by many areas of research (genetics, therapeutics, social, etc)
· 1 out of 2 patient organisations fund basic research and 1 out of 3 fund human and social science research. Contrary to the common belief that patients only support therapeutic research, it is clear that patient groups understand and invest in long-term research projects, as well.

PATIENTS SUPPORT RESEARCH IN OTHER WAYS TOO

· Patient organisations support research mainly through actions aiming at creating links between patients, researchers and physicians.
· 1 in 2 POs support research by helping to identify patients to participate in clinical trials or by providing information and counselling for potential participants in clinical trials.
· Almost 1 in 2 POs collaborated in clinical trial design and helped define research projects by highlighting patients' needs and expectations.
· 1 in 3 POs participate in scientific committees within institutions, which reveals that their legitimacy is increasingly acknowledged and that their desire to support research is also political.
Correlation between the age of the PO and degree of involvement in research:
· 25% of the POs who responded have spent more than 20 years supporting research. They are the ones who support research the most and are most satisfied with the results.
· The smaller, younger patient groups (25% of the PO who responded have less than 5 years of existence) are also actively involved in research by providing non-financial support. They give encouraging signs of increasing cooperation and progress in their relations with researchers.

WHAT ARE PATIENTS' PRIORITIES?
· Patients say the highest priority for the allocation of public funds should be clinical research (therapeutic and diagnosis). Nevertheless, their funding allocation priorities do not coincide with the funding allocation priorities they expect from the public sector. Patient groups fund mostly basic research and epidemiological studies.
· Patient groups see themselves as partners, identifying the gaps and supporting the first steps of research left out by the public or private sectors.

WHAT ARE THE OBSTACLES THEY'VE ENCOUNTERED?
· According to patients, the biggest obstacle in the progress of research is the lack of researchers and clinicians specialising in rare diseases and the lack of coordination amongst them. Most obstacles encountered are the direct result of the rareness of the disease. However, they also point to organisational problems, such as lack of coordination and multidisciplinary.

RELATIONS BETWEEN PATIENTS AND RESEARCHERS: BRIDGING THE GAP
· Relations with researchers are very good for the biggest, oldest and richest patient groups, (such as Neuromuscular and Cystic Fibrosis)
· For the youngest POs with smaller budgets, their level of enthusiasm to support research is not matched by that of researchers, who are less willing to collaborate with them.
· Nevertheless, the older and most established patient organisations have increasingly good relations with researchers, which means that there is a virtuous circle of collaboration between patients and researchers - increased collaboration improves trust and leads to more collaboration
· This means that there is hope for the smaller and younger patient groups to build increasingly good relations with the research community over time.
· In practice, it is important to address the expectations of young and small patient groups regarding closer links with the research community.

CONCLUSIONS
· Rare disease patient organisations are playing an important role as catalysers of research on their respective diseases.
· Due to their intimate knowledge of their diseases and lay expertise, patient organisations are in a strategic position at the crossroads of all fields in research (from basic to therapeutic), patients are in the best position to highlight the setbacks in basic research and clinical applications and the weaknesses of translational research for their disease.
· Rare diseases patient organisations are calling for a "research model" where basic and clinical research is conducted in parallel and through an intense dialogue between scientists, clinicians and patients. They are calling for partnering of all stakeholders.
· It is clear that despite their enthusiasm, POs do not have the means or the ambition to control research and carry all research by themselves. POs will not substitute public institutions but they can be valuable partners in research by:
· Identifying the gaps and giving financial or logistic support to the initial stages of research projects that can be taken on later by the public or private sector.
· By contributing their unique knowledge of each disease, and by establishing relations of trust between patients and researchers.
A summary of this survey was presented at the European Workshop on Rare Disease Research, held on the occasion of Rare Disease Day 2010 (Brussels, March 1st, 2010)

Author: Paloma Tejada

REVISED NOSOLOGY - HOT OFF THE PRESS:

The Revised diagnostic criteria for Marfan syndrome has been published in the Journal of Medical Genetics (J Med Genet 2010;47:476-485).

The goal of revised nosology revision is to simplify the evaluation process for physicians. The new diagnostic process - which continues to be based primarily on a multi-system clinical examination - will provide patients with a more accurate diagnosis and better medical management.

These criteria were developed by an international panel of experts in the diagnosis and management of Marfan syndrome: Bart L. Loeys, Harry C. Dietz, Alan C. Braverman; Bert L Callewaert; Julie De Backer; Richard B. Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M. Milewicz; Reed E. Pyeritz; Paul D. Sponseller; Paul Wordsworth, and Anne M. De Paepe.
Abstract of the article:
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counseling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialized investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS—whether or not established correctly—can be stigmatizing, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.

E-mails and Communicatins

We have had a number of communications from many countries and several people have offered to be "contacts" for their countries until an organization can be set up. If you are interested in any of these contacts write to them and let them know:

We also have a new organization in the Ukraine. Sergii Demchenko, has written to represent the Ukrainian Marfan Care Centre (UMCC), and joined the IFMSO. We have checked out the web site provided and are continuing the review which is written in Ukrainian.

We had a nice e-mail from Susana Oliveira from Portugal. She would like to hear from people in Portugal, in order to form a group or organization. See her information in the "box" below:
________________________________________________________________________

ARE YOU LOOKING FOR A MARFAN CONTACT IN PORTUGAL?
INTERESTED IN LEARNING MORE ABOUT MARFAN?
I am looking to form a group in Portugal for people with Marfan syndrome. E-mail me if you would like to be a member of a new group in Portugal, and join the International Federation of Marfan Syndrome Organizations (IFMSO).
Susana Marisa de Lemos Samgy Oliverira. anjo1116@yahoo.com
______________________________________________________________________________________

Also we have received an e-mail from, I believe, Algiers, from someone looking for diagnosis and medical care. We would be interested in any information about Algeria's medical resources relating to Marfan syndrome or genetic disorders. If any one has had experience there, please let me know.

Worldwide Marfan Newsletters - Electronic and Paper

I continue to receive a number of IFMSO organization's excellent newsletters, both electronically and by mail. Two that were outstanding this month were from the Canadian Marfan Association (CMA), and the Marfan Association Victoria (MAV). It appears that the CMA has a new design, which is very colorful and dramatic. It was chuck full of information, listing their Medical Advisory Board (MAB) , Board of Directors and President and Executive Manager. Also listed is the CMA founder and lifetime director, Elizabeth McHenry. I remember her well when she started out with the CMA back some 20 years ago, I believe. She is one of the wonderful Marfan organizational pioneers. Looking through the list on the CMA/MAB, I recognized Dr. Reed Pyeritz, long-time Marfan researcher, and Dr. Tirone David, cardiac surgeon, well know for his valve sparing treatment for aortic insufficience.

The new President of the Marfan Association Victoria is Justin Nix, taking over from founder Sally Ferguson, who retired after doing such a great job. Justin Nix is well known to many in the United States since he has attended several of the National Marfan Foundation Annual Conferences. He and his wife, Kate -who serves as secretary - are a great team, along with the cooperative effort of many people working to bring support and information to the Victoria area in South East Australia. Their newsletter was chock full of pictures, which are always fun to see and many activities.

Recent Meetings and Dates to Remember

The German Society of Connective Tissue Research (DGBF) and the Swiss Society of Matrix Biology (SSMB) held the XXIInd FECTS Meeting in Davos from July 3rd - 7th 2010. Unfortunately this newsletter will be out after this date, but we were pleased to learn of this meeting. The non- European colleagues were invited too, because the meeting was arranged as a joined meeting with the International Society of Matrix Biology.

As usual the topics included all aspects of the extracellular matrix. Since the 'Gordon Research Conference on Basement Membranes' will not be continued in 2010, this meeting offered a focus on basement membranes. The conference also covered acquired and genetic diseases, cell therapy, stem cells, biomaterials and biomechanics, inflammation and angiogenesis, tissue engineering, and regenerative medicine.

The meeting included plenary lectures given by outstanding scientists in the field, workshops with short talks selected from submitted abstracts, and poster sessions for individual scientific discussions. At the meeting the most recent data from all aspects of basic and applied extracellular matrix research were shown. This meeting also serves to foster the scientific exchange between junior and senior scientists and provide opportunities for lively discussions between researchers from academic and industrial institutions.

European Marfan Syndrome Network (EMSN) -
Annual Meeting - September 2 - 5, 2010

The EMSN meeting 2010 is being hosted by the Landsforeningen for Marfan Syndrome, Denmark, in Ebeltoft, in Denmark on September, 2 - 5, 2010. The EMSN will host a number of the European Marfan organizations and focus on future plans and challenges for the future. The EMSN will hold, simultaneously, the EMSN Young Adults Meeting, which has a program that will focus on their particular interests. More information can be found at EMSN e-mail: preston5@bluewin.ch

The 8th International Research Symposium on Marfan Syndrome and Related Disorders Meeting will be held on September 11 - 14, 2010. The meeting will be held at the Airlie Center in Warrenton, Virginia, USA. The focus will be on current progress and controversies in diagnosis, treatment and pathogenesis of Marfan syndrome and related disorders. The five- year hiatus since the last meeting has been the period of greatest clinical and basic research. Therefore the symposium will be aimed at: · understanding mechanisms by which mutations are translated to phenotype · recognition of the broad clinical range of aneurysm related syndromes · identification of genes that harbor mutations · defining a new generation of effective therapies · the initiation of trials to determine their efficacy in people. This conference will bring together investigators to share the results of new studies; to consider how mechanisms identified in one disorder could be operative in others; to plan new studies in single gene disorders; assess new therapies, and work on collaborative arrangements to further our understanding of these disorders and to apply therapies in novel settings. This is a valuable setting in which investigators who work on a diverse set of genes can compare their findings and explore the implications of their own work in a new context. The previous meetings have brought truly transformative results and we expect this one to do the same Additional information available from Jgrima@marfan.org

The 2010 - American Society for Matrix Biology (ASMB)

2010 ASMB Meeting - Celebrating 10 years of ECM Connections!
The 10 Year Anniversary Biennial Meeting of the American Society for Matrix Biology is set to be held October 24-27, 2010 in Charleston, South Carolina, U.S. at The Francis Marion Hotel. The Meeting Organizer, Bill Parks and Program Chair, Jean Schwarzbauer, have put together an excellent program and updates are added regularly. Please select from the links below for further details about the program, registration, accommodations etc. You may check this link for registration information: http://www.asmb.net/2010_registration.php

Dr. Hal Dietz, (Johns Hopkins, U.S.) speaking at the Congress International Marfan, SIMA Asociación de Afectados Síndrome de Marfan, in April, 2010.

The Congreso Internacional Marfan, which was held by the Asociación de Afectados Síndrome de Marfan, (SIMA), on April 27, 2010 at Alicante, was a great success. The program was ambitious and featured many of the international research community. The conference was recorded in video and some of Congreso will be available on DVD with highlights of the event. They may possibly be subtitled in English. We understand that the next annual SIMA Journal will be out sometime in the summer and will be dedicated to the Congress and its events. You can obtain additional information from: info@marfan.es, or check out their web site: www.marfan.es

In Memorium

We were saddened to learn of the death of Leena Peltonen, well know researcher for her work as a matrix biologist and one who contributed to the mapping of the Marfan gene. Her death on March 11, 2010.was a great loss to the research world and to the world communities of Marfan and heritable disorders of connective tissue who benefited from her lifetime of research. We will all miss her.

We also lost another long time person in the world of research and of the National Institutes of Health, Ruth I. Kirschstein, M.D., who passed away on October 6, 2009. She blazed a trail for women in science and served as Principal Deputy Director of NIH and several times as Acting Director. She was honored by her friends and colleagues of the NIH, and members of Congress, at a memorial held at the Natcher Building, NIH, Bethesda, MD, on May 17, 2010.

The next IFMSO newsletter be in October and will feature information about the 8the International Research Symposium on the Marfan Syndrome.

Priscilla Ciccariello
President, IFMSO
Chair emeritus, National Marfan Foundation

June 30, 2010

Priscilla Ciccariello, IFMSO President and Editor of IFMSO E-News
February, 2010

Please contact the Editor: Priscilla Ciccariello if you have any questions regarding the IFMSO E-Newsletter, or if you wish to contribute to the articles and news page. E-mail me at: cilla71@aol.com or Peter Ciccariello , webmaster.

IFMSO
C/O National Marfan Foundation
22 Manhassett Avenue, Port Washington, NY 11050
http://www.marfanworld.org

Contact Information

President: Priscilla Ciccariello

Vice Presidents:
Wenche Snekkevik, (Norway),
Justin Nix, (Australia),
Yoko Shimozaki, (Japan)
Pernille Mai Strauss Warren, (Denmark)

Treasurer: Cheryl Williams, United States

Webmaster: Peter Ciccariello