Resources and links for patients and physicians.

Patient Resources

Cystinuria Private Facebook Group
This is one of the best resources on the web for people dealing with Cystinuria and their caregivers.  The group is hosted by Gayle Sweeny.  It is a private group so you will have to apply and be accepted.
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Dear Healthcare Professional
A letter for patients to provide to healthcare professionals, giving them an overview of Cystinuria.
Download Letter

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 or visit the official registry site at New York University.
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Cystinuria UK
Written and designed by healthcare professionals from Guy’s and St. Thomas’ NHS Foundation Trust in (London, UK) with contributions from several patients.
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Resources for Physicians

The Rare Kidney Stone Consortium (RKSC)
The homepage of the RKSC, facilitating cooperative exchange of information and resources among investigators, clinicians, and patients, and researchers in order to improve care and outcomes for patients with rare stone diseases.
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UK Registry for Rare Kidney Diseases (RaDaR)
The homepage of the UK Registry for Rare Kidney Diseases (RaDaR). RaDaR is where healthcare professionals register patients and enter data.
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National Library of Medicine Articles on Cystinuria
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Experiences in Accessing Mental Health Treatment
You are asked to complete this survey if: You are a parent or guardian of a child under the age of 18, with a mental health condition, a medical condition, and/or a rare disease, and the child lives in your home. If you agree to take part in this study, you will be asked questions about different aspects of accessing mental health care. Please be aware that you may find some of the questions sensitive. You do not need to answer questions that make you feel uncomfortable; however, the survey is anonymous. The information gathered from this survey is important in helping us identify ways to make access to mental health care easier for families.
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Evaluating Patients With Cystinuria
This is an open label, multicentre study, evaluating the safety, tolerability, efficacy, compliance and acceptability of alkalising treatments at long-term in patients with cystinuria.
Study Information (Recruiting now)

Evaluating Patients With Cystinuria and Efficacy and Safety Exploratory Study in the Youngest Children 
This is a multicentre, randomized, controlled versus placebo, double-blinded, 4 parallel arms, dose-ranging main study, to evaluate the efficacy, safety and tolerability and acceptability of repeated doses of ADV7103, after 7 days of treatment, in patients with cystinuria, and an efficacy and safety exploratory study in the youngest children.
Study Information (Recruiting now)

Lipoic Acid Supplement for Cystine Stone
This study evaluates how daily alpha lipoic acid supplementation affects cystine kidney stone recurrence. Half of the subjects will receive 1200 mg alpha lipoic acid orally daily for three years, while the other half will receive a placebo. The funding source for this clinical trial is FDA OOPD.
Study Information (Recruiting now)

Effect of Urine Alkalinazation on Urinary Inflammatory Markers 
It has recently been described the presence of a urinary inflammatory signature in patients with cystinuria, the most common cause of renal lithiasis of genetical origin. These data are very innovative in this pathology but deserve further studies to establish the specificity of this inflammatory signature in patients with cystinuria compared to other nephropathies and other renal lithiasis diseases. Moreover, the effect of the usual treatment of cystinuria (namely urine alkalanization) on urinary inflammatory biomarkers deserves to be tested.
Study Information (Recruiting now)

Rare Kidney Stone Consortium Biobank
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
Study Information (Recruiting now)

Rare Kidney Stone Consortium Patient Registry
The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.
Study Information (Recruiting now)

Health-related Quality of Life in Rare Kidney Stone
Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium.
Study Information (Recruiting now)

Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)
The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.
Study Information (Recruiting now)