Clinical trials: Nephropathic Cystinosis
Non Muscle Invasive Bladder Cancer
The Necessity of a Second Transurethral Resection in High-risk Non-muscle-invasive Bladder Cancer Patients With Negative Urine Biomarker After Initial Transurethral Resection
The goal of this clinical trial is to evaluate the efficacy of using a urine biomarker test to guide the decision-making process regarding the necessity of reTURBT in NMIBC patients.
- Trial name
- NCT06287541
- Testing
- Urine biomarker -Guided without reTURBT
- Where
- China
- Volunteers
- 428 people
- Sponsor
- The First Affiliated Hospital with Nanjing Medical University
Fanconi Anemia Complementation Group A
A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A
The objective of this study is to assess the therapeutic safety and preliminary efficacy of a hematopoietic cell-based gene therapy consisting of autologous CD34+ enriched cells transduced with a lentiviral vector carrying the…
- Trial name
- NCT03814408
- Testing
- RP-L102
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Cystinosis
Kidney Transplantation in Patients With Cystinosis
This study will test the effectiveness of a combination of anti-rejection medicines in preventing complications typically seen in cystinosis patients undergoing kidney transplants.
- Trial name
- NCT00074516
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Cystinosis, Nephropathic Cystinosis
Cure Cystinosis International Registry
Cure Cystinosis International Registry (CCIR) is an online, patient self-identifying registry developed by medical and scientific experts specifically for the cystinosis community.
- Conditions
- Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome
- Trial name
- CCIR (NCT01327807)
- Where
- United States
- Volunteers
- 750 people
- Sponsor
- Cystinosis Research Foundation
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Cystinosis
Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis
Cystinosis is an inherited disease that results in poor growth and kidney disease, among other things. The damage to the kidneys and other organs is thought to be due to accumulation of cystine inside the cells of various body…
- Trial name
- NCT00001213
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 328 people
- Sponsor
- National Eye Institute (NEI)
Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I
Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
The goal of this study is to determine if the Lactate Plus meter is accurate compared to lab lactate levels, and to determine if the Accu chek guide glucometer is accurate compared to lab serum glucose levels in patients with…
- Conditions
- Glycogen Storage Disease Type IA, Glycogen Storage Disease Type I, Glycogen Storage Disease Type IB, Glycogen Storage Disease Xi
- Trial name
- NCT07459582
- Testing
- Lactate Meter, Accu Chek
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Connecticut Children's Medical Center
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Non Muscle Invasive Bladder Cancer
A Study Comparing the Necessity of a Second Transurethral Resection in High-Risk Non-Muscle-Invasive Bladder Cancer Patients With Negative Results From Post-Initial Resection Urine Genome-Wide Low-Depth Sequencing
This study is a prospective, randomized, multicenter clinical trial aiming to enroll 428 patients with non-muscle-invasive bladder cancer (NMIBC) from the Department of Urology at Jiangsu Provincial People's Hospital and its…
- Trial name
- NCT07036731
- Testing
- Urine biomarker -Guided without reTURBT
- Where
- China
- Volunteers
- 428 people
- Sponsor
- The First Affiliated Hospital with Nanjing Medical University
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
Cystinosis
Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis
OBJECTIVES: I. Establish a computerized databank to monitor the progress of patients with cystinosis treated with cysteamine. II. Track and monitor all patients including renal transplant, dialysis and post renal transplants.
- Trial name
- NCT00004312
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Center for Research Resources (NCRR)
Cystinosis, Fanconi Syndrome
Evaluation of Fanconi Syndrome and Cystinosis
OBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
- Trial name
- NCT00004350
- Volunteers
- 12 people
- Sponsor
- National Center for Research Resources (NCRR)
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
Pseudotumor Cerebri, Cystinosis
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC).
- Trial name
- NCT00071903
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Nephropathic Cyctinosis, Corneal Cystine Crystals
Efficacy of Topical Cysteamine in Nephropathic Cyctinosis
The aim of this study is to evaluate the efficacy of topical cysteamine eye drops in the treatment of corneal cystine crystals deposits in patients with nephropathic cystinosis.
- Trial name
- NCT02766855
- Testing
- Cysteamine
- Volunteers
- 26 people
- Sponsor
- The Eye Center and The Eye Foundation for Research in Ophthalmology
Fanconi Syndrome
Observational Follow-up Study of Haplo-identical Transplants in Fanconi Disease
This observational protocol will allow for an independent, prospective evaluation of the improvement in survival of patients with Fanconi disease in hematological deadlock due to the absence of an HLA-identical donor and having…
- Trial name
- HAPLO-FANCONI (NCT05903365)
- Testing
- Blood sampling
- Volunteers
- 18 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fanconi Anemia Complementation Group A, Fanconi Anemia
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial.
- Trial name
- NCT04437771
- Testing
- Safety and efficacy assessments
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Cystinosis, Cystinosis, Nephropathic
Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy
Newborn screening in Germany is a voluntary program. Cystinosis and spinal muscular atrophy (SMA) are rare autosomal recessive diseases. They are inherited in an autosomal recessive manner, i.e.
- Conditions
- Cystinosis, Cystinosis, Nephropathic, Spinal Muscular Atrophy
- Trial name
- GENESIS1 (NCT06027385)
- Testing
- molecular-based screening
- Where
- 4 sites in Germany
- Volunteers
- 300,000 people
- Sponsor
- Cystinose Stiftung