Clinical trials: Nephropathic Cystinosis, open to volunteers
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
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
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
Nephropathic Cystinosis, Cystinosis
Pilot Study of TTI-0102 in Cystinosis
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with…
- Trial name
- NCT07837726
- Testing
- TTI-0102 (cysteamine-pantetheine disulfide)
- Volunteers
- 6 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
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
Nephropathic Cystinosis
DFT383 in Pediatric Participants With Nephropathic Cystinosis
An open-label, multi-center, phase I/II study to assess the safety, tolerability and efficacy of DFT383 in pediatric participants with nephropathic cystinosis, followed by a long-term extension phase.
- Trial name
- CYStem (NCT06910813)
- Testing
- DFT383
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- Novartis Pharmaceuticals
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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