Clinical trials: Cystinosis
Cystinosis
Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
The primary objective of the study is to evaluate the change in motor function of patients with cystinosis. The secondary objectives of the study: assessment of the respiratory function; assessment of the muscle function…
- Trial name
- Cystinose (NCT05545774)
- Where
- 2 sites in France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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)
Diabetes Mellitus, Sarcoidosis
Salivary Proteins in Disease and Health
This study will examine saliva samples from healthy volunteers and patients with various diseases to learn more about how disease affects the mouth and salivary glands.
- Conditions
- Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome
- Trial name
- NCT00100204
- Where
- United States
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
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, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
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
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
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
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
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
Transfusional Iron Overload
A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity
The purpose of this open-label, non-comparative, multi-center protocol was to further evaluate safety and to provide treatment with ICL670 to patients who had or were at risk of life threatening complications due to transfusional…
- Trial name
- NCT01044186
- Testing
- ICL670
- Where
- 18 sites in United States, Greece and 1 more
- Volunteers
- 30 people
- Sponsor
- Novartis Pharmaceuticals
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
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, 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
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Cystinosis
Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Cystinosis is a rare congenital, inherited metabolic disorder that results in the storage of cystine in the cells of many organs of the body.
- Trial name
- QUALIFY (NCT05959668)
- Where
- Germany
- Volunteers
- 300 people
- Sponsor
- Cystinose Stiftung
Cystinosis
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.
- Trial name
- NCT00822250
- Testing
- analysis of pigmentation
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
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
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
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)