David Goldfarb, MD. (Principal Investigator) | bio | New York University, New York, NY and Lenox Hill Hospital, New York, NY|
Join the Cystinuria Registry
The International Cystinuria Registry is now operational. Participation of patients will help physicians and scientists learn more about this rare disease, and help design new treatments. To learn more about the Cystinuria registry at New York University, please send an e-mail to firstname.lastname@example.org or visit the official registry site at New York University.
The biobank started recruiting and we recently mailed the first consent forms to registry participants. If you are interested in joining, email us at email@example.com and request a consent form. The biobank is open for all registry participants. We plan to collect blood, urine and stone samples (if available), for the biobank. Specimens will be stored at the Mayo Clinic in Rochester MN. Participants that are not seen in New York will receive a collection kit with instructions for the collection. There is no cost. International participants are welcome to join.
Currently there are two clinical trials recruiting patients enrolled in the cystinuria registry. The first trial is to measure cystine capacity (Cyscap) in urine to predict stone recurrence.. The Cyscap test by Litholink Corporation, Chicago, IL, measures the cystine supersaturation (SS) or capacity of a patient's urine. The clinical course in cystinuria varies greatly from person to person. Some patients have mild disease with few stones in their lifetime while others are frequent stone formers necessitating multiple urologic procedures per year. We are trying to see if Cyscap predicts how people do clinically. This study is open to registry participants from the US.
The second clinical trial is to determine the effect of increasing dosages of cystine binding thiol drugs (CBTDs) on the amount of cystine in the urine of individuals with cystinuria. This study hopes to find the best way to dose CBTDs [either D-penicillamine (Cuprimine®) or tiopronin (Thiola®)] that should be given to cystinuria patients in order to allow the urine to take up more cystine and reduce the chance of kidney stones. Although CBTDs are normally given as per the "standard of care", there is no set guideline to determining the best dosage. Therefore, this may lead to dosages that are too small, resulting in kidney stones; or too large, resulting in unnecessary side effects. This study is open to registry participants seen at Lenox Hill Hospital.
For more detailed information about these trials, please email firstname.lastname@example.org.
Quality of Life
The quality of life protocol will be operational soon. This study will be open to all participants enrolled in one of the RKSC registries.
The purpose of this study is to learn about Health-related Quality Of Life (HRQoL) in patients enrolled in the Rare Kidney Stone Consortium (RKSC) registries. All participants enrolled in the RKSC registries will be invited, via email or postal mail, to participate in this study.
Health-related quality of life in people with rare kidney stones included in the RKSC registries will be assessed. Instruments used in this protocol are the SF-10 for pediatric participants and SF-36v2 for adult participants. The administration of these surveys will be done online. Participants without a computer and/or internet access will participate using a paper version of these instruments. These surveys will be done at enrollment and annually thereafter.
International Cystinuria Foundation | www.cystinuria.org
Cystinuria Support Network | www.cystinuria.com
NYU School of Medicine, Division of Nephrology - main site for the cystinuria registry
Cystinuria Support Network, active Yahoo email group
International Cystinuria Foundation
Rare Kidney Stone Consortium, main consortium web site
Other Facebooks sites
en espanol: http://www.facebook.com/groups/153010944726588/
cystinuria awareness project: http://www.facebook.com/groups/309167699098336/?fref=ts