Health Articles

Ccir12 profupdate

Dear Friends,
The launch of the CCIR website almost two years ago marked the first
ever attempt to create a worldwide cystinosis patient registry. We would
like to congratulate you for being a part of this important movement
to make improved treatments for cystinosis a reality! With over 350
registrants from 33 countries, CCIR truly captures a global perspective
As you may know, there can be several barriers to medical advancements inrare diseases like cystinosis. Commonly, there exists an under-appreciation of the importance of rare disease research due to a lack of understandingabout the disease and its impact. Patient registries help address such short-comings by collecting essential information about a disease and the populationsaffected by it. Registry data can be instrumental in providing supportive evidence that ongoing research is necessary. The value of the information contained in CCIR cannot be over-emphasized.
As intended, the anonymous data is actively being used by the research
and medical community.
• In May of this year, an application to perform a stem cell clinical trial for cystinosis was approved at UCLA. The application included statistics fromCCIR that demonstrated that despite early intervention with cysteamine,medical complications still persists. The argument was thus made thatnovel therapies needed to be further explored. Renal Transplant Status
Graph 1. Geographical location of CCIR registrants.
Graph 2. Percentage of all CCIR registrants who
have and have not undergone renal transplantation.
Note: The CCIR website is available in English, Spanish,
French and Portuguese to help facilitate registration in
Note: 20% of those transplanted had received 2
various countries. Successful global representation in the or more transplants in their lifetime.
registry would not be possible without the help of cystinosissupport groups and treating physicians all over the world.
• Several researchers in different fields of medicine have cited CCIR data in scientific presentations at national and international conferences. They covered various CCIR medical survey topics such as gastrointestinalsymptoms, seizures, and kidney function.
• An editorial in the academic journal, Kidney International, by Dr. Stephanie Cherqui of the Scripps Research Institute in La Jolla, CA appeared in January2012 and makes reference to CCIR data on kidney transplants, muscleweakness and hypothyroidism. • An academic paper by Dr. Ranjan Dohil of the University of California, San Diego that has been accepted for publication in the journal ClinicalPharmacology in Drug Development suggests that cysteamine is most effective if taken without food. He points out in the article that this is interesting to note in light of the fact that 63% of CCIR registrants report taking the drug with food. Age at First Renal Transplant
Graph 3. The reported ages at which CCIR registrants
underwent their first renal transplant.
Note: Twenty-seven years is the average age of registrants
who responded that they had received a kidney transplant
once in their life.
• Doctors and cystinosis support groups in countries where access to medications and appropriate medical care is extremely limited believe that CCIR information can be very useful in advocacy efforts. It may help bolster their arguments that changes to institutional policy are necessary to bringabout better care for cystinosis patients.
Don't forget that as a CCIR participant, the data contained in CCIR is available to you as a resource as well. You may navigate the database at yourleisure using the "Explore" function. If you have a question about cystinosisthat you would like an expert to answer, don't hesitate to submit it via the "Ask an Expert" function. Rest assured that all communication is keptconfidential. The functions mentioned can be accessed by clicking on the respective tabs, found at the top of the CCIR homepage once logged in to your account. For your convenience, some interesting graphs and Ask an Expert Q & A strings from CCIR are included in this newsletter.
Finally, I would like to remind you that it is extremely important to have
the most current information about the affected person's health status.
Renal Transplant Status
Graph 4. Percentage of all CCIR registrants who report that they suffer from seizures, severe
headaches, learning difficulties, problems with coordination and memory loss.
Note: Cystinosis patients may require supportive therapies to help with common neurological issues.
You will receive an automatic reminder to update the person's profile andmedical survey annually. Five to ten minutes is all it takes to log in to theCCIR account and verify that the information has or has not changed.
Please do so as soon as you get a chance. This will ensure that CCIR contains accurate and up to date information.
We appreciate your time and commitment to this cause, and hope
you will help spread the word to others.
Betty Cabrera, CCIR Curator
[email protected]
*DISCLAIMER OF MEDICAL ADVICE Information or advice provided here is not intended to be a substitute for independent professionalmedical judgment, advice, diagnosis, or treatment. You should always seek the advice of your physicianor other qualified health provider with any questions or concerns you may have regarding your health.
You should never disregard or delay seeking medical advice relating to treatment or standard of care because of information provided by CCIR. QThings to keep in mind when considering growth hormone use.
Growth hormone therapy requires daily injections and careful monitoring (additional blood testing and X-rays). It is also expensive, and not without the risk of complications. For those reasons, it should be reserved for children who fail to grow when all other issues have been addressed. Correction of rickets is important for improving height, but there are a number of other problems that interfere with growth in cystinotic children. Nutrition should be optimized – this often means consultation with a nutritionist who is aware of the ongoing loss of sugar, amino acids and protein in cystinosis and, probably, caloric supplementation. Salt balance is crucial – the combination of indomethacin and oral salt supplements might berecommended. Of course acidosis should be fully corrected and cysteamine therapy should beoptimized. When all these aspects have been dealt with (and given a chance to work), then growth hormone may be worth considering.
Are there any strategies that help manage the bedwetting issues in small children
with cystinosis?
The large urine volumes in cystinosis may be decreased by 25% in babies who take indomethacin,but the decision to use this drug is complicated due to possible side effects of the drug and should be discussed carefully with the baby's physician. Indomethacin cuts down on urinarylosses of fluid and electrolytes, often reducing the amounts of supplements that must be given to the child to maintain balance. However, indomethacin is (like a very large dose of aspirin) directly irritant to the stomach and can cause nausea and vomiting. Some people are more sensitive than others. Thus, it should be given at the lowest dose that is effective – usually between 1–2 mg/kg/day in divided doses and should always be given with a medicine to block stomach acid release – like omeprazole.
Even with indomethacin, many families decide to "double diaper" their child by tearing the absorptive part of one diaper out and inserting it inside a second, slightly larger size diaper. Alternatively, you may consider using commercially available Diaper Doublers (http://www.diaperdoublers.net/), which are pads that you can place inside the diaper to help with absorption. Heavy duty, washable bed pads also help absorb the urine and preventhaving to change the sheets more than once a night.
Can you explain the difference between potassium citrate and potassium chloride?
Which one would you recommend for a cystinosis patient?
Potassium citrate can kill two birds with one stone. The potassium replaces potassium lost in the urine. The citrate is metabolized by the body, generating bicarbonate to neutralize acidosis – veryuseful for a child with cystinosis. However, if the proportions of these need to be adjusted separately, a physician may prescribe potassium chloride and some form of citrate or bicarbonate separately.

Source: http://www.cystinosis.ie/_files/ccir_patientnewsletter_083012.pdf