Clinical trials: Cystinuria
Colic, Nephropathy
Neonatal Outcome of Children With Antenatal Colic Hyperechogenicity
Fetal colic hyper-echogenicity is a presenting symptoms for cystinuria lysinuria. A few cases of fetuses with dibasic protein intolerance (more complex prognosis) presented with colic hyper-echogenicity antenatal.
- Trial name
- COLONECHOGENE (NCT04983069)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- University Hospital, Montpellier
Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency
Sulfamethoxazole for the Treatment of Primary PREPL Deficiency
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
- Trial name
- SPPD (NCT02640443)
- Testing
- Sulfamethoxazole
- Volunteers
- 15 people
- Sponsor
- Universitair Ziekenhuis Brussel
Cystinuria
TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
The goal of this research project is to establish that in short-term use, tolvaptan is a safe and potentially effective new therapy for cystinuria, by conducting a short-term pilot study of the safety and tolerability of this…
- Trial name
- TCUPS (NCT02538016)
- Testing
- Tolvaptan
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Caleb Nelson
Nephrocalcinosis, Renal Calculi
Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis
Kidney stones are very common. They affect 3-5% of the population in the United States. Many people are hospitalized for the treatment of kidney stones and some may die.
- Conditions
- Nephrocalcinosis, Renal Calculi, Hypercalciuria, Hyperparathyroidism
- Trial name
- NCT00169806
- Testing
- videotape for mapping of renal anatomy and papillary biopsy
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Indiana Kidney Stone Institute
Primary Hyperoxaluria, Cystinuria
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
- Conditions
- Primary Hyperoxaluria, Cystinuria, Adenine Phosphoribosyl Transferase Deficiency, Dent Disease
- Trial name
- NCT02124395
- Testing
- Health-related Quality of Life in Rare Kidney Stone Questionnaire
- Where
- 3 sites in United States, Iceland
- Volunteers
- 365 people
- Sponsor
- NYU Langone Health
Cystinuria
Registry of Thiola EC Therapy
Thiola EC represents several modifications of Thiola that promise better, more efficacious therapy of cystinuria. First, pill size has changed from 100 mg to 300 mg, meaning that typical pill burden will be reduced from, on…
- Trial name
- NCT05048563
- Where
- 4 sites in United States
- Volunteers
- 25 people
- Sponsor
- NYU Langone Health
Cystinuria, Nephrolithiasis, Calcium Oxalate
Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones
We will investigate the safety and effectiveness of a mixture of 9 east Indian herbs known as Cystone regarding their ability to dissolve existing kidney stones and prevent formation of new ones.
- Trial name
- NCT00381849
- Testing
- Cystone
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mayo Clinic
Cystinuria
The Effect of Sodium-glucose Cotransporter (SGLT) 2 Inhibitors on Cystine Stone Formation: A Preliminary Study
Cystinuria is an inherited autosomal recessive disorder of the kidney that is the result of an inability to reabsorb cystine from the urine.
- Trial name
- NCT04818034
- Testing
- Dapagliflozin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of California, San Francisco
Cystinuria, Renal Lithiasis
Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria
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.
- Conditions
- Cystinuria, Renal Lithiasis, Glomerulonephritis, Interstitial Nephritis
- Trial name
- NCT03836144
- Testing
- Potassium citrate
- Where
- France
- Volunteers
- 63 people
- Sponsor
- European Georges Pompidou Hospital
Hyperoxaluria, Cystinuria
Prospective Research Rare Kidney Stones (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…
- Conditions
- Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome
- Trial name
- ProRKS (NCT02780297)
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 220 people
- Sponsor
- Mayo Clinic
Cystinuria
Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria
The purpose of this study is to evaluate the effect of escalating doses of cystine biding thiol drugs, including tiopronin and d-penicillamine, on the urinary cystine capacity, which is a measure of the amount of cystine in the…
- Trial name
- NCT02125721
- Testing
- Tiopronin 1g per day, Tiopronin 2g per day, Tiopronin 3g per day
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- NYU Langone Health
Cystinuria
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…
- Trial name
- ALA (NCT02910531)
- Testing
- Alpha lipoic acid
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Thomas Chi, MD
Rare Kidney Stone Diseases
Monogenic Kidney Stone - Genetic Testing
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease.
- Trial name
- NCT03305835
- Where
- United States
- Volunteers
- 6,000 people
- Sponsor
- Mayo Clinic
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Primary Hyperoxaluria, Dent Disease
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.
- Conditions
- Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
- Trial name
- RKSC (NCT00588562)
- Where
- 4 sites in United States, Iceland
- Volunteers
- 730 people
- Sponsor
- Mayo Clinic
Primary Hyperoxaluria, Dent Disease
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.
- Conditions
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
- Trial name
- NCT02026388
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Mayo Clinic
Cystinuria
Cystine Capacity Clinical Study (CysCap)
The purpose of this study is to determine whether urinary cystine capacity, an assay used to measure the amount of cystine in the urine, can be used to predict stone recurrence in patients with cystinuria.
- Trial name
- NCT02120105
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- NYU Langone Health
Cystinuria
Bucillamine Phase 2 Trial in Patients With Cystinuria
Subjects on a standard regimen of tiopronin (cystine binding thiol drug; CBTD) plus prescribed first-line therapy (i.e. on a hydration, alkali therapy and dietary restriction) who are failing therapy will be selected for this…
- Trial name
- NCT02942420
- Testing
- Bucillamine
- Where
- 5 sites in United States
- Volunteers
- 30 people
- Sponsor
- Revive Therapeutics, Ltd.
Cystinuria
Long Term Clinical Efficacy of Sodium-glucose Cotransporter-2 (SGLT-2) Inhibitor in Cystinurics
Cystinuria is an inherited autosomal recessive disorder of the kidney that is the result of an inability to reabsorb dibasic amino acids, including cystine, from the urine.
- Trial name
- NCT05058859
- Testing
- Dapagliflozin
- Where
- United States
- Sponsor
- University of California, San Francisco
Cystinuria
This Study Evaluates the Superiority of Daily Self-pH Monitorization of Lit-control®pH Meter Compared to the Monitorization of Reactive Strips (Standard of Care).
This study evaluates the superiority of daily self-pH monitorization of Lit-control®pH meter compared to the monitorization of reactive strips (standard of care).
- Trial name
- NCT03539926
- Testing
- Lit-control®pH Meter, Reactive strips
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- Devicare S.L.