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About 338 results

ALLMedicine™ Nephropathic Cystinosis Center

Research & Reviews  115 results

Use of Cysteamine in the Treatment of Cystinosis
https://clinicaltrials.gov/ct2/show/NCT00359684

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...

Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.
https://doi.org/10.1152/ajprenal.00277.2021
American Journal of Physiology. Renal Physiology; Hollywood JA, Kallingappa PK et. al.

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...

Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using ...
https://doi.org/10.1002/mus.27642
Muscle & Nerve; Sullivan S, Grant N et. al.

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...

Clinical and genetic characteristics of Tunisian children with infantile nephropathic c...
https://doi.org/10.1007/s00467-022-05525-1
Pediatric Nephrology (Berlin, Germany); El Younsi M, Trabelsi M et. al.

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...

CYSTEA-BONE Clinical Study
https://clinicaltrials.gov/ct2/show/NCT03919981

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...

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Drugs  4 results see all →

Clinicaltrials.gov  13 results

Use of Cysteamine in the Treatment of Cystinosis
https://clinicaltrials.gov/ct2/show/NCT00359684

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...

CYSTEA-BONE Clinical Study
https://clinicaltrials.gov/ct2/show/NCT03919981

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...

Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients
https://clinicaltrials.gov/ct2/show/NCT04246060

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.

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)
https://clinicaltrials.gov/ct2/show/NCT02837523

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...

A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
https://clinicaltrials.gov/ct2/show/NCT04069260

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...

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News  3 results

New Drug OK'd for Rare Genetic Disease
https://www.medpagetoday.com/nephrology/generalnephrology/38783

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...

FDA approves Raptor's drug for nephropathic cystinosis
https://www.reuters.com/article/us-raptor-fda/fda-approves-raptors-drug-for-nephropathic-cystinosis-idUSBRE93T0UY20130430

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...

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