Clinical trials: Cystinosis
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)
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
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
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, Primary Hyperoxaluria
Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
In Germany parents of newborns are offered newborn screening (NBS) for 17 congenital diseases as a standard benefit of statutory health insurance. NBS in Germany is voluntary. Cystinosis and hyperoxaluria are very rare diseases.
- Trial name
- GENESIS (NCT05843851)
- Testing
- Diagnostic test
- Where
- Germany
- Volunteers
- 200,000 people
- Sponsor
- Cystinose Stiftung
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
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, 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)
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)
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
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
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
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
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, 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)
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
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
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
Fanconi Anaemia
Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
Patients with Fanconi anaemia have an increased risk of developing squamous cell carcinoma of the head and neck. In addition, their genetic vulnerability limits the use of genotoxic treatments such as radiotherapy and…
- Trial name
- Fanc-Oral (NCT07242261)
- Testing
- Oral brushing
- Volunteers
- 115 people
- Sponsor
- Institut Jean-Godinot
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