ALLMedicine™ Nephropathic Cystinosis Center

Aug 3rd, 2022 - Patients with nephropathic cystinosis have been treated with the cystine-depleting agent cysteamine since 1978. This therapy prevents or delays renal deterioration, improves growth, and depletes parenchymal tissues of cystine. Based largely upon d...

Jun 14th, 2022 - The lysosomal storage disease cystinosis is caused by mutations in CTNS, encoding the cystine transporter cystinosin, and in its severest form leads to proximal tubule dysfunction followed by kidney failure. Patients receive the drug-based therapy...

May 27th, 2022 - Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), a vali...

Apr 22nd, 2022 - Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African populati...

Mar 16th, 2022 - Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin. Patients with NC usually receive c...

Aug 3rd, 2022 - Patients with nephropathic cystinosis have been treated with the cystine-depleting agent cysteamine since 1978. This therapy prevents or delays renal deterioration, improves growth, and depletes parenchymal tissues of cystine. Based largely upon d...

Mar 16th, 2022 - Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin. Patients with NC usually receive c...

Nov 29th, 2021 - 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 their parents.

May 13th, 2021 - Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, Cystinosis...

May 27th, 2020 - This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele. Six patients will be enrolled in the t...

Oct 14th, 2015 - A supplement to Internal Medicine News. Faculty Larry A.

May 1st, 2013 - SILVER SPRING, Md. -- A long-acting oral form of cysteamine bitartrate (Procysbi) has won FDA approval for treating nephropathic cystinosis for patients age 6 and older, the agency said. The disease, which the FDA said affects some 500 patients in...

Apr 30th, 2013 - The corporate logo of the U.S. Food and Drug Administration (FDA) is shown in Silver Spring, Maryland, November 4, 2009. REUTERS/Jason Reed WASHINGTON (Reuters) - The Food and Drug Administration has approved an experimental drug from Raptor Pharm...