Noordwijkerhout, The Netherlands
This Conference
was made possible because of very generous funding provided by:
Orphan Europe, Sigma Tau, Pfizer, J.Tromp Beheer BV, UMC St Radboud, The
Cystinosis Foundation, USA, AIRG of France, and The Cystinosis Group for
The Netherlands and Belgium
We owe them our heartfelt thanks for this
event!
Click Here to See a Slideshow of the Congress & Families that Attended
"WORKING TOGETHER FOR CYSTINOSIS"
The Fourth International
Cystinosis Congress was held, June 30 - July 2, 2006 in Noordwijkerhout,
the
Doctors Morocco, Turkey, Egypt, Netherlands, Germany, U.K., U.S.A., France, Australia, and Greece were in attendance as well as parents, children, and adults from Poland and Romania. Speakers were from the Netherlands, USA, France, UK, Germany and Australia. Marjolein Bos from The Netherlands deserves a big thank you for all of her work organizing hotel and conference registrations.
Friday, June 30th - Day 1
Dr. Willima Gahl, using a PowerPoint presentation, illustrated how cysteamine promotes transport of crystals out of the cell. Cysteamine helps growth and kidney function. Coronary artery calcification increases if not on Cysteamine. Cysteamine improves the outcome of retinopathy. Diabetes may be avoided by staying on Cysteamine.
Dr.Nine Knoers discussed gene therapy and what we can learn from other diseases. There are 25,000 Genes in the Human DNA. There are more than 1800 known gene disorders. Studies evaluating gene therapy for cystinosis are just starting. Use of this therapy is many years off.
The conference had a parallel sessions for the professionals. Dr. Corrine Antignac spoke of the Molecular pathogenesis of Cystinosis. V. Kalatzis gave a talk about new aspects that they have learned from mice lacking in cystinosin. F. Emma talked about the pathogenesis of cell dysfunction in Cystinosis. Dr. Elena Levtchenko and Marten Wilmer discussed the cystine dimethyl ester model of Cystinosis and whether this is still reliable, and L. van den Heuvel spoke concerning new technologies to study the pathogenesis of Cystinosis. Later some abstracts were presented.
The other parallel session was for the families. Dr. Doris Trauner, Dr. Ineke Hulstein and A. van den Berg were on the panel to discuss feeding issues, compliance, overprotection and coping for siblings and parents. Reports were given from the foundations around the world. Later, some of the families shared their stories. Shenadrah O’Cathsaigh showed slides of Devin, a boy in Ireland that had bruises on his elbows and also some growths. He died last fall. She expressed concern about this side effect and asked the doctors to discuss this and try to come to some conclusions before the conference was over.
Dr. Fletcher from
Debbie Woodward - a parent from Brisbane, Australia reported that Australia has 30 patients with cystinosis. New Zealand has 3.
Ms.Bosouw, an intern in a Dutch Laboratory, Nijemegen presented a paper to the doctors showing a special component coming from the lungs. After metabolism of Cystagon a small body of gas has been tracked and has been identified as the reason for bad smell. She received a special award at the conference for this work. The Award is the "Rizzoni Award" in honor and memory of Dr. Rizzoni, an Italian pediatrician who worked with Cystinosis patients. Dr. Rizzoni was very active in all of the International Cystinosis Conferences.
There was a wonderful reception after the last session and families got a chance to talk while tasting some hors d’oeuvres and sampling the Dutch beer and wine.
Saturday, July 1st - Day 2
Dr. Loirat, of France, spoke on Treatment of Kidney disease in Cystinosis. The need for children to have free access to water and salty foods. Pickles, Pizza, and Potato Chips. DO NOT mix Cysteamine in orange juice but it is O.K. to mix it in other drinks and food. Indomethacin is a beneficial treatment. It reduces the need of water intake and urination by about 30%. Side Effect: It may induce gastro-intestinal bleeding and ulcers. An antacid such as Omeprazol is recommended.
Dr. Barbara Sonies from the USA reported that Cysteamine is important to keep good swallowing mechanism and retain good muscles in the hands. Some patients have died from swallowing difficulties. Swallowing food which improperly enters the airway or lungs is termed aspiration. As age progresses swallowing difficulty increases. Cysteamine improves the outcome of swallowing. Carnitine replacement can help.
Dr. Craig Langman from the USA presented information on renal bone disease in children. Cystinotics are deficient in Vitamin D. There is a defect in Vitamin D metabolism. Vitamin D is important in the diet even after transplants. When the children develop Fanconi Syndrome, they can’t absorb phosphate. They develop rickets which is worsened by the carnitine deficiency and often have a Vitamin D deficiency due to a decreased exposure to the sun. Then minutes exposure to sunlight is needed to get natural Vitamin D (He said that they should have a 10 minute exposure to the sun per day for Vitamin D). With the loss of kidney function, they develop Renal osteodystrophy (ROD) and also CKD-MBD (Chronic Kidney Disease Bone Disorder).
Dr. Patrick Niaudet from
Dr. Doris Trauner explained some of the results
of her studies in the
Dr. Hulstijn also found the same results with her
patients in the
Dr. William Van’t Hoff of the U.K. showed the UK Cystinosis Registry with data from the last 10 years. There have been 5-6 new cases of cystinosis diagnosed each year for the past 5 years in the U.K. He also stated that the Blue growth on the elbows is due to high doses of Cystagon. Six cases are now reported. This is a rare disorder of blood vessels.
Henk Blom from the
Dr. Dalton from King’s College London discussed the use of quantitative leucocyte cystine to diagnose Cystinosis. He stressed the importance of clinic appointments coinciding with the blood draw, when monitoring cystine levels.
Dr. Dohil of the USA, explained some the GI symptoms related to Cystinosis. Acid blockers such as Prilosec or Nexium have been shown to be effective when taken 30 minutes before eating (or medicine). It has been shown to give 10-12 hours of acid reduction. His lab has done experiments administering Omeprizole (Prilosec) or Nexium 30-6- minutes before a mean. A naso-enteric tube is used. His study was in the Journal of Pediatrics 2006. He also said a double coated enteric cystagon is impressive - more drug reaches the tissue. Controlled release Cysteamine is a possiblity.
Dr. Robert Kleta spoke about the importance of Cystaemine therapy staring from an early age.
Dr. Elena Levtchenko of the Netherlands, discussed compliance and explained that the maximum effect of Cystagon is at two hours after ingestion. At six hours blood returns to pre-level. A Dutch study shows compliance become poorer with age progession.
Dr. William Gahl spoke on the effects of cysteamine
on the late complications of Cystinosis.
Dr. R. Anderson from the
The afternoon sessions for families were divided between families of young children and adults or families of adolescents.
Sunday, July 2nd - Day 3
D. Creemers discussed the benefits of physical exercise for patients with renal disease. Even post-transplant, it was discussed that modifications could be made so that they could participate.
Mack Maxwell gave a demonstration of his work out routine. He showed the therapy putty and hand grips which can help strengthen muscles in the hands. He also showed how to exercise your calf muscles by standing on your toes and alternating legs. Mack does walking with some sprints or jogging, weight lifting, swimming and deep breathing exercises using an incentive spirometer.