Clinical trials: Cystinosis
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
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)
Cystinosis, Myopathy
Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
Background: -(Degree)ystinosis is an inherited disease. If not treated correctly, it can cause muscle wasting and weakness and kidney damage. Researchers want to learn if growth hormone (GH) can help people with cystinosis.
- Trial name
- NCT02124070
- Testing
- rh Growth Hormone
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Cystinosis
Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis
OBJECTIVES: I. Determine the proportion of patients with cystinosis who experience a serious adverse effect when treated with a new formulation of cysteamine hydrochloride for corneal cystine accumulation. II.
- Trial name
- NCT00010426
- Testing
- cysteamine hydrochloride
- Volunteers
- 30 people
- Sponsor
- FDA Office of Orphan Products Development
SIOD, Cystinosis
Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor
This is a single center, non-randomized, non-controlled open-label phase 1b/2a trial of performing sequential αβdepleted-HSCT and KT in patients requiring KT to prevent kidney rejection post-KT, in the absence of any post-KT…
- Conditions
- SIOD, Cystinosis, FSGS, SLE Nephritis
- Trial name
- NCT05508009
- Testing
- Cyclophosphamide 1200 mg/Kg, Fludarabine, Cyclophosphamide 100 mg/Kg
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Alice Bertaina
Cystinosis
The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients
Cystinosis is a rare autosomal recessive disorder, characterized by the abnormal accumulation of cystine in the lysosomes. Cystinosis is mostly caused by mutations in the cystinosin gene (CTNS).
- Trial name
- NCT02533076
- Testing
- Challenge agent: capsaicin, Mechanical stimulation with Von Frey filaments, Temperature sensitivity measurement with Advanced Thermal Stimulation
- Where
- Belgium
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Renal Disease, Cystinosis
N Acetyl Cysteine for Cystinosis Patients
This study intends to verify the interference of N acetyl cysteine in the progression of chronic kidney disease in patients with Nephropathic Cystinosis.
- Trial name
- NCT01614431
- Testing
- N acetyl cysteine
- Volunteers
- 23 people
- Sponsor
- University of Sao Paulo
Cystinosis
A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
This is a multinational, long-term follow-up study to assess the long-term safety and durability of CTNS-RD-04 treatment in participants who received a single dose administration of lentiviral gene therapy.
- Trial name
- NCT05146830
- Testing
- Safety and Efficacy Assessments
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Stephanie Cherqui
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
Renal Fanconi Syndrome, Photophobia
Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood
- Conditions
- Renal Fanconi Syndrome, Photophobia, Hypophosphatemia
- Trial name
- BioCystinosis (NCT02837523)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Cystinosis
PK and PD Study of NPI-001 and Cysteamine Bitartrate
Safety, pharmacokinetics, and pharmacodynamics of NPI-001 oral solution in cystinosis patients compared with cysteamine.
- Trial name
- INCA (NCT05994534)
- Testing
- Cysteamine Bitartrate, N-Acetylcysteine Amide
- Where
- Australia
- Volunteers
- 8 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Cystinosis
European Cystinosis Cohort
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe).
- Trial name
- RaDiCo-ECYSCO (NCT05901077)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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.
Nephropathic Cystinosis
Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients
Most of the real world evidence data related to efficacy of cysteamine therapy is retrospective. This study is a ambispective study to investigate the impact of cystine depletion therapy on the quality of life of patients and…
- Trial name
- PROREAL (NCT04246060)
- Testing
- Cysteamine Bitartrate
- Where
- 7 sites in Belgium
- Volunteers
- 31 people
- Sponsor
- Chiesi SA/NV
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
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