Clinical trials: Cystinuria
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
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
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
Study 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.
- Trial name
- NCT04137978
- Testing
- ADV7103, Standard of Care
- Where
- 13 sites in Belgium, France
- Sponsor
- Advicenne Pharma
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
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
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
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
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
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
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
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
Cystinuria
Study Evaluating Patients With Cystinuria and Efficacy and Safety Exploratory Study in the Youngest Children
This is a multicenter, 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…
- Trial name
- NCT04147871
- Testing
- ADV7103
- Where
- 12 sites in Belgium, France
- Sponsor
- Advicenne Pharma