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Cystadrops® is currently indicated in adults and children from 2 years of age diagnosed with cystinosis with corneal crystal accumulation observed.
However administration of Cystadrops® in patients below 2 years old could be of value for these patients and prevent the crystal deposit. It is the reason why as part of the Cystadrops® pediatric investigational plan (PIP), RECORDATI Rare Diseases committed to conduct a clinical study to assess Cystadrops® safety and efficacy in the pediatric population from 6 months to less than 2 years old.
Not yet recruiting
Recordati Rare Diseases
Published on BioPortfolio: 2019-10-18T11:21:36-0400
The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.
OBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and 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 transpla...
Development of a new MS-based biomarker for the early and sensitive diagnosis of Cystinosis disease from plasma.
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolo...
Cystinosis is a rare genetic lysosomal storage disorder characterized by the accumulation of cystine in lysosomes. Many organ systems are vulnerable to this cystine accumulation including the CNS. A p...
Little is known about the long-term progression of adult nephropathic cystinosis patients. Our objective was to study central nervous system complications in cystinosis patients in the era of early cy...
Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome ...
Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the manageme...
Ctns mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns mice are 25(OH)D and 1,25(OH) D insufficient. We i...
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
A radiation-protective agent that oxidizes in air to form CYSTAMINE. It can be given intravenously or orally to treat radiation sickness. The bitartrate has been used for the oral treatment of nephropathic cystinosis.
Compounds and drugs that react with CYSTINE and convert it into a compound that can be more easily metabolized or intracellularly transported. Drugs in this class have been used to treat CYSTINOSIS.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...