cystinosis


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cystinosis

(ˌsɪstəˈnəʊsɪs)
pl n
a disease caused by a build-up of the amino acid cystine in the body
References in periodicals archive ?
is a leading, Phase 2 gene therapy company focused on the development of its investigational gene therapy, AVR-RD-01, in Fabry disease, as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease, cystinosis and Pompe disease.
"Clinical milestones anticipated later this year include the transition to our plato platform and the dosing of the first patients in the Gaucher and cystinosis trials.
Net proceeds from the offering, along with its existing cash resources, may be used by the company to fund the support its current programmes in Fabry disease, Gaucher disease, cystinosis and Pompe disease, to fund research and development activities of the clinical and preclinical activities, general and administrative expenses and working capital, as well as other general corporate purposes.
The capsules are FDA-approved for children one year of age and older and adults living with nephropathic cystinosis.
Similarly, medicines for rare diseases like Wilson's disease and Cystinosis disease are proposed to be exempted from import duties.
In lieu of flowers, donations to the American Cancer Society, www.cancer.org or Cystinosis Research Network, www.cystinosis.org would be appreciated.
As a rare autosomal-recessive metabolic disorder, cystinosis is caused by defective transport of cystine across the lysosomal membrane.[1] Once the diagnosis of cystinosis is confirmed, specific treatment with cysteamine, an aminothiol, should be applied to the patient as soon as possible in order to preserve renal function and improve growth in affected children.[2] Cysteamine is the only specific drug approved by the Food and Drug Administration for cystinosis.
Previous research by the team had shown that transplanting wildtype or normal mouse HSPCs resulted in long-term kidney, eye and thyroid preservation in a mouse model of cystinosis, another genetic disorder.
share the case of a 7-year-old girl who was diagnosed with asymptomatic nephropathic cystinosis when pathognomonic white crystals were detected in the cornea during a routine eye examination.
Eloxx is planning to initiate multiple clinical studies for ELX-02, its lead development candidate, and anticipates achieving substantial clinical milestones over the course of 2017 and 2018, particularly in the lead clinical programmes in cystic fibrosis and cystinosis patients carrying nonsense mutations.