Rare Disease Center funded by NIH
From Dr. David Goldfarb
Director, Kidney Stone Prevention Program, St. Vincents Hospital
Professor of Medicine and Physiology, NYU School of Medicine
Dear Cystinuria Community,
I have exciting and important news. Our Rare Disease Center grant, which includes a Cystinuria Center, was funded by the National Institutes of Health for 5 years starting in September 2009.
Our group is formally called the Consortium for Hereditary Causes of Nephrolithiasis and Kidney Failure and informally, the Rare Kidney Stone Consortium.
The grant’s principle investigator (PI) is Dr. Dawn Milliner at the Mayo Clinic. Dawn is a pediatric nephrologist. The co-PI is John Lieske at the Mayo. John is an adult nephrologist.
There are 4 rare kidney stone components of our group:
1. Primary hyperoxaluria: PI is Dawn Milliner at Mayo Clinic
2. Cystinuria: I am PI, at NYU (though I see patients only at St. Vincents Hospital)
3. APRT deficiency, a cause of dihydroxyadenine (DHA) stones; PI is Vidar Edvardsson in Reyjkavik, Iceland.
4. Dent Disease, a cause of calcium stones, PIs are John Lieske and is Lada Beara-Lasic, who works with me at NYU.
The reason we got this grant is in part due to our PAGs: our patient advocacy groups. These are two, whose letters of support accompanied our application: Sue Holden of the Cystinuria Support Network (CSN; cystinuria.com) and Matt Lewis, of the International Cystinuria Foundation (ICF; cystinuria.org). We were able to convincingly demonstrate that we are in touch with the cystinuria community by showing the activity of emails on CSN and the postings in the forums of ICF. Your participation in our Quality of Life survey last year, which included more than 200 people with cystinuria, was also evidence that we were in touch with people around the world with cystinuria. (The results were presented last year at the American Society of Nephrology last year and Frank Modersitzki, my research coordinator, is finishing the paper which we’ll then be able to publish and then disseminate to you soon.)
Right now our new website is www.rarekidneystones.org: Please check it out. It was put together for us by Matt Lewis of the ICF. We will work to make it better but for now it links to the 2 websites.
The goals of the consortium are to strengthen the scientific work and especially to work with the PAGs. The first goal is to set up a registry for people with cystinuria. This has been a frequent topic of conversation on CSN for years. We’re going to do it at a high level. The Mayo Clinic’s experience with a registry for primary hyperoxaluria was another reason that our Rare Kidney Stone group received funding. We want to get every person, as many as possible, with cystinuria, to send us medical records (paying attention to the obvious privacy issues) and keep track of what happens to them. How many stones, how much kidney dysfunction, what quality of life, what treatments and side effects, etc. This is ambitious and important and a significant reason for the NIH to fund this work. We are going to a workshop on building registries at NIH in January. (Please don’t send me your medical records now! We’re getting ready to do start in 2010.)
The second goal is to establish that the cystine supersaturation test is the best way to manage cystinuria as I believe. The test is done by Litholink in Chicago and currently not available elsewhere. We hope to show that it predicts which patients are most likely to have recurrent stones and then also show that it is a better way to dose drugs. The grant will not pay for the test to be done, but your insurance will. I have encouraged many of you to have your doctors do this test (call Litholink 800-338-4333); I’ve sent many of you the medical literature to give to your doctors); and I have offered to help physicians less familiar with the results interpret and use them. We hope to collect all these data. (Note: I have no financial relationship with Litholink; just a scientific one).
Third, we are likely to be able to have some patients genotyped, i.e. to have some DNA sequences determined. I now have collaborations with Virginia Nunes and Manuel Palacin in Barcelona, the leading geneticist and the leading physiologist of cystinuria in the world and they have a grant from the Spanish government to do DNA and will do some patients from the registry eventually. This is probably not important from a treatment point of view, but may help understand the disorder better. There’s lots of data about the mutations that affect the European population, but little about the American population.
So what can I ask of all of you? We need you to be committed to participating in this research effort. We need strong Patient Advocacy Groups that are active in helping us do research, gather data, be representatives of the PAGs on phone calls and planning sessions. We need to show the NIH that this is a group that cares about this effort and is collaborating with the researchers who are doing the work. We are funded for 5 years and if we can be renewed in 2014 it will only be because we’ve been productive, done something useful with the money we received, and demonstrated the support of the cystinuria community.
The PAG that worked with Dawn Milliner to put together the primary hyperoxaluria registry and served as the basis for the current grant is the OHF: Oxalosis and Hyperoxaluria Foundation. http://ohf.org/
The president of the OHF, which is about 4 staff members more than CSN or ICF has is Kim Hollander who is very glad to discuss being a PAG with the cystinuria community. She attended the meeting at NIH with us, as we were asked to bring one PAG member with us. Kim went out to dinner at that meeting with other PAGs and thought the perspective to be very useful and educational. This Rare Disease Center thing is in part driven by parents of children with rare diseases and they were at the meeting discussing their experiences as PAGs, learning how to do it effectively and getting people interested in their disorders.
This is an extremely important opportunity. There are many opportunities to learn something and maybe even treat cystinuria in a different way and improve the care. I hope you think this is exciting and I hope that you’ll join me in making this happen. Your efforts to date have led to something that is now at fruition and I will need your help.
With best wishes,
David
David S. Goldfarb, MD