Brian Long presented Jean Hobbs Hotz with a Lifetime Achievement Award
Click Here to See a Slideshow of Families that Attended
Click Here is read the Abstract Book from the Conference
The Second International Cystinosis Congress, NEW FRONTIERS for HOPE, was held June 28-30, 2002, in Vanves, near Paris, France. The International Congress was hosted by the Cystinosis Foundation of the United States and AIRG of France.. This collaboration brought together the greatest group of cystinosis authorities in the history of cystinosis. Professor Michel Broyer, of Necker-Enfants Malades Hospital. Paris, was Chairman of the event. He received the Froundation's Lifetime Achievement Award at the First International Congress in Ranica, Italy, 2000,
Professor Broyer was ably assisted by Francois Couppey and Isobelle Manciet, President of AIRG, We are grateful to Samantha Parker, Orphan Europe for her expertise and willingnes to go, "the extra mile." Samantha's creativity produced the Abstract Book. From the United States we are beholden to Frank and Karen Ritchie, Bruce Mund, Tom Melang. and Jean Hobbs Hotz.
Speakers converged from England, Sweden, Saudi Arabia, Germany, The Netherlands, Australia, Ireland, France and the United States to share knowledge with families, guests,and others in the medical profession.
Filling the need for adults with cystinosis and doctors, to meet and share their concerns, an informal Adult Issues Session was held at the hotel June 29. The session was facilitated by Tom Melang, Board Member. Lively discussions ensued as the adults asked questions that were of interest or concern to them. Of particular interest was Tom's question of Sleep Apnea. Dr. Maggie Fitzpatrick, from Leeds, England, clearly explained Sleep Apnea, how it occurs and treatment.
Families from Belgium, the Netherlands, Australia, Ireland, Germany, France, England, France, and the United States shared their stories and experiences during the Family Stories Session, facilitated by Karen Ritchie. Official languages were French and English, with translations available.
Dr. William Gahl reported it is "Better to take fewer large doses of cystagon than several small doses." 500 milligrams, 4 times daily is the normal adult dose.
Doctors who deal with adults are not necessarily well informed about cystinosis. Pediatricians are better informed about this disease.
Dr. Jerry Schneider presented the history of the disease.
Dr. Vant' Hoff explained that there are 119 patients in 15 centers in the UK. 40 have a transplant. The average age of diagnosis is 1-½ years of age.
Dr. Essam Al-Sabban from Saudi Arabia has 15 patients with cystinosis. He is constructing an international database for cystinosis. The main website is www.cystinosisdb.org. Sept. 30 is planned for a trial run. October 30 it is expected to run full-time. Dr. Sabban's e-mail address is: esabban@cystinosisdb.org. Dr. Sabban trained in medicine in Canada for 6 years.
Dr. Corrine Antignac from Neckar Hospital, Paris, related that chromosome 17 is the location of the gene for cystinosis. (called CTNS.) This discovery was accomplished in collaboration with Dr. Vant'hoff and each doctor's respective research team.
Stephanie Cherqui, from Dr. Antignac's lab, illustrated experiments with 32 cystinotic mice. (4 models shown). Eye and bone irregularities were indicated with the mice.
Dr. Ranjun Dohil from UCSD related research with gastro intestinal problems resulting from cysteamine. One hour after ingestion of cysteamine, stomach acids increase. Dr. Dohil is experimenting on the use of ant-acids to correct the intestinal problems. Priolosec is one of the ant-acids.
Patrick Niaudet showed growth curves indicating cysteamine q promotes growth. It appears a number of patients are under dosed.
Chantal Loirat of France: "ndomethacin reduces urine output by 30%. It is a favorite in France. A side-effect is bleeding of the gastro tract." No living vaccine should be given to a patient after transplantation. We are depending on the pharmaceutical industry for time-release medications.
Dr. Schneider: Mylan might be convinced to work on this with a three-year end result. (time release).
Georgette Bohron - Caprice (a nursing consultant in France.) "OROPUR" is available in France to combat bad breath. It costs 38 euro a month and no insurance covers it. One patient quit cysteamine but returned because of OROPUR.
Jonathan Terry, UK, likes Breath-Assure from the USA.
Dr. DorisTrauner, UCSD showed problems in the brain; three studies. 37 individuals in study 2. Visual learning and memory were lower than normal. With more time permitted to process the information the result is normal performance in processing visual information. Cystinosis persons can learn at normal level if given more time to process the visual material, especially problems with math.
Georges Finidori , France, showed computer slides of skeletal problems. (orthopedic problems.) Compliant patients do not have so many bone problems.
Jean Jacques-Robert, France, speaking about diabetes in nephropathic cystinosis. 45% need diabetic treatment after 15 years of graft in the French study. As age progresses, diabetes more likely. Easily treated diabetes.
Craig Langman, M.D. (From Chicago) no growth in cystinotic patients after transplant. Most have poor nutrition. Carnitine prevents excess build-up of lactic acid. Acquired carnitine deficiency reduces growth hormone effectiveness. In an oral L-carnitine study, over 36 months, muscles gave normal carnitine levels.
Jean-Pierre Grunfeld, Neckar
Hospital, Paris, (an adult nephrologist) stressed the importance of good
transition of patient from pediatric to adult nephrologist. Adult nephrologists
must be informed of pediatric nephrology.
Dr. Marc Dommergues, an obstetrician., from Neckar Hospital, Paris. "Impacts on pregnancy." Cystagon prevents pregnancy.
This was an extremely successful conference; aided by simultaneous translation in English to French and vice-versa; there was state-of-the-art projection equipment and a comfortable, large meeting room with excellent lighting and darkening controls.
THANK YOU TO ALL OF
OUR VOLUNTEERS,
OUR MOST GENEROUS SUPPORTERS, AND THE
SPEAKERS
The
2nd Cystinosis International Conference was a united effort by the Cystinosis
Foundation to bring the Cystinosis Community together. Many volunteers donated
much of their time and talents, for their love of families and individuals with
cystinosis.
Our sincere gratitude to Francois
& Beatrice Couppey, Isobelle Manciet, Samantha Parker, Frank & Karen
Ritchie, Tom Melang, Jr, Bruce & Merle Mund, and Jean Hobbs Hotz. We would
also like to recognize and thank Sigma-Tau Pharmaceuticals, Inc., United
States, providing major funding for the Congress, while additional funding was
received in France, from AIRG, AFM, Pharmacia Endocrinologie, Association
Theodora, Orphan Europe, Mercure, Sylive Voyages, and Euro Disney S.CA. Without
the support of these generous companies this great event could not have taken
place.