3rd  International Cystinosis Congress 2004


Click Here to See a Slideshow of the Congress & Families that Attended

Abstract Book from the Conference is at the publisher and will be available soon.

The Third International Cystinosis Congress was held, July 9-11, 2004 in Tarragona, Spain. This Congress was a collaboration among the Cystinosis Foundation, AIRG France, AIRG Spain, Sigma Tau, and Orphan Europe.

Friday, July 9th

The Conference or Congress, as they say in Europe, began with a taste of Spanish cuisine and continental breakfast. Our conference heads, William van't Hoff from the UK and Angel Vila López from Spain began the conference with introductions and explanations to the entire group. During the sessions with presentations to the entire group, earphones were available so that you could hear translations of the presentations in English, French or Spanish. Then the group was split into two so that families could become acquainted with each other and the professionals could share information about Cystinosis in their medical jargon and terminology during which most of us without a medical background get easily lost and start daydreaming.

For the medical professionals, Dr. Corinne Antignac from France presented a talk on the Molecular Basis of Cystinosis. Guido Laube from Switzerland and Dr. William van't Hoff from the UK discussed the Biochemical Basis of Cystinosis. Dr. Neil Dalton from the UK gave his talk on Leukocyte Cystine: the Key Measurement. Then from the U.S., Dr. Craig Langman talked about Supportive Therapy using L-Carnitine in caring for children with chronic kidney disease. Dr. Guillém Pintos Morell from Spain discussed Proteinuria in Cystinosis. The professional talks ended with Dr. Minnie Sarwal presenting Management of the Cystinosis Transplant.

The families shared their stories with discussions led by Jean Hotz, President of the Cystinosis Foundation from the U.S., Francois Couppey of AIRG -France and Roser Torra of AIRG- Spain. Families from Spain, France, Italy, Germany, the Netherlands, Belgium, Great Britain, Ireland and the U.S shared the stories of their children or their own story and then translations were given in French, Spanish and English so that everyone could understand. As always this was a touching and emotional experience that made us laugh and cry.

After lunch, the groups were joined together to hear information from the various foundations around the world. Jean Hotz spoke about the Cystinosis Foundation in the U.S., Roser Torra spoke about the newly formed AIRG-Spain and Jean Claude Barre talked about AIRG -France. Next, Anne Marie O'Dowd gave an exciting summary about the fundraising successes of the Cystinosis Foundation, Ireland. Dr. Leticia Belmont Martínez from Mexico spoke on behalf of Víctor Gómez on the Cystinosis Foundation, Mexico. Then, we heard updates on Cystinosis in various countries. Suzanne Collin spoke about the UK Cystinosis Registry, Carmen Garcia Meseguer and Angel Vila López spoke about Cystinosis in Iberia, and Conceicao Mota and Dulce Quelhas talked about Cystinosis in Portugal. The day ended with Dr. Corrine Antignac discussing Cystinosis Mutations across the globe.

In the evening, we went to the town hall in Tarragona and had a very nice reception with the mayor. They provided some drinks and Tapas (typical Spanish appetizers). After a nice dinner, we went to watch the International Fireworks Festival on the beach. The end to a wonderful and overwhelming Friday.

Saturday, July 10th

The morning sessions began with Dr. Gianfranco Rizzoni sharing Growth: Long Term Data from Italy. Then, Dr. Doris Trauner from the U.S. described the Neurology of Cystinosis. Dr. Patrick Niaudet from France explained the Endocrine System and Dr. Ranjan Dohil discussed Gastrointestinal problems in Cystinosis. From the UK, Dr. Alan Watson presented information on the Transition from child to adult care and how to know when a transition is appropriate. Dr. Chantal Loirat spoke on Compliance especially in the adolescent years. (**Interesting tidbit: Compliant child reached adolescence and completely stopped taking Cystagon developed renal failure between 4-6 months later.) Dr. Philippe Duverger from France spoke about Psychological Challenges for the Cystinosis Patient. The morning sessions ended with a presentation by Dr. Barbara Enke from Germany discussing the Medical Challenges for the adult with Cystinosis.

In the afternoon, Dr. Elena Levtchenko from the Netherlands spoke about Looking after the Adult with Cystinosis and Jonathan Terry, founder of the Cystinosis Foundation, UK gave a summary about his life and Forever Growing with Cystinosis. The group was then split into two. One group, chaired by Dr. William van't Hoff from the UK held a question/ answer discussion session for families with young children. The panel helping to answer questions consisted of Dr. William Gahl from NIH in the U.S., Sheila Stanley, a nurse from the UK and Seandradh O'Cathasaigh, mom from Cystinosis Foundation Ireland. Many topics were discussed including children with poor eating habits or some who were eating too much, eye drop therapy, ways of giving Cystagon and getting children to swallow the capsules, social problems in school or having friends and others. The other group, chaired by Hubert Nivet discussed the Transition from Pediatric to Adult Care in Cystinosis. The panel consisted of Dr. Philippe Duverger from France, Dr. Barbara Enke from Germany and Jonathan Terry, adult with Cystinosis from UK. Sunday: In the morning sessions selected abstracts were presented. Dr. Farzad Alemi spoke on "Expression analysis of mouse model of Cystinosis using high-density microarrays" and Dr. Suryadevara Pratap from UK discussed "Design, synthesis and in vitro evaluation of novel prodrugs for treatment of Cystinosis". Dr. Thomas Jeitner from the U.S. presented "y-Glutamylcysteamine: a novel cysteamine therapy". Dr. Henk Blom from the Netherlands discussed "Comparison of cystine determination in mixed leukocytes versus polymorphonuclear leukocytes for diagnosis of Cystinosis and monitoring of cysteamine therapy". Dr. Elena Levtchenko also from the Netherlands spoke on "ATP depletion and increased oxidized glutathione in cultured cystinotic fibroblasts". The oral presentations ended with Dr. Ali Ahmadzadeh reporting on "Nephropathic Infantile Cystinosis" in Iran

The day was broken up a bit when Jean Hotz presented Dr. Suryadevara Pratap, a doctor from India, working with the doctors from University of Sunderland in the UK an award for the best presentation. Some flowers were given to the woman in charge of daycare for the children and also to Jean Hotz with a standing ovation for all of her hard work, which made the international conference a success.

Dr. William Gahl spoke about Cysteamine Therapy: the first 25 years, followed by Dr. Michel Broyer from France who spoke on the Long Term Follow-up of Patients treated by Cysteamine. The presentations ended with Dr. Jerry Schneider who talked about the future of Cystinosis. He highlighted what we know from the past and also what is successful: 1)early diagnosis & treatment 2)compliance with medicine: especially taking Cystagon every 6 hours 3) frequent measurement of leukocyte cystine from blood (drawn 5-6 hours after taking Cystagon).

The conference ended with lunch and a lot of photo taking and goodbyes. Many new friends were made & other friendships renewed. Some of the conference attendees went to Universal Mediterranean, a theme park near Tarragona. Others toured the city of Tarragona, which contains Roman ruins, a coliseum and aqueduct and a beautiful beach and port.

*A special thanks to Dr. William van't Hoff and Samantha Parker from Orphan Europe for their enormous contributions to the success of this important event. Jean Claude Barre, president of AIRG and Francois Couppey from AIRG France should also be recognized for their devoted service.

We also want to thank the following people who collaborated and using their various skills made this event attended by families, their relatives and friends, researchers, physicians and others in the medical profession a reality:

CONFERENCE HOSTS
Angel Vila Lopez, MD 
Chairman of Congress William Vant'Hoff, MD 
Co-Chairman of Congress Jean Hotz, President Cystinosis Foundation 
Ramon Quintilla, President AIRG - Spain 
Isabelle Manciet, President AIRG-France 
Samantha Parker, Orphan Europe

EXECUTIVE COMMITTEE
Angel Vila Lopez, MD 
Chairman, Spain Jean Hotz, President Cystinosis Foundation, USA 
Ramon Quintilla, AIRG - Spain 
William Vant'Hoff MD, Co-Chairman, UK 
Francois Couppey & Nicole Patin, AIRG - France 
Samantha Parker, Orphan Europe


INTERNATIONAL ADVISORY BOARD
Atif Awan, MD 
Ireland Leticia Belmont, MD, Mexico 
Barbara Enke, MD, Germany 
Craig Langman, MD, USA 
Brian Long, UK 
Mara Fogliarda, Italy 
Anne Marie O'Dowd, Cystinosis Foundation, Ireland 
Samantha Parker, Orphan Europe 
Gianfranco Rizzoni, MD, Italy 
Susan & Serena Scott, Australia 
Jonathan Terry, Cystinosis Foundation, UK 
José Ballarin, MD, Spain 
Marjolein Bos, Cystinosis Foundation, Netherlands 
Victor M. Gomez Molina, Cystinosis Foundation, Mexico 
Elena Levchenko, MD, Netherlands 
Sue Maguire, Cystinosis Foundation, Ireland 
Patrick Niaudet, MD, France 
Seandradh O'Cathasaigh, Cystinosis Foundation, Ireland 
Frank Ritchie, Cystinosis Foundation, USA 
Jerry Schneider, MD, USA 
Claudia Sproedt, Germany 
Roser Torra, MD, Spain

**Abstracts of the presentations should be available on the web soon!

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