Ceruloplasmin

Orphalan announces publication of results from the CHELATE trial in The Lancet Gastroenterology & Hepatology

Retrieved on: 
Friday, September 30, 2022

It was the first treatment for Wilson's disease to be approved by the FDA in over five decades.

Key Points: 
  • It was the first treatment for Wilson's disease to be approved by the FDA in over five decades.
  • During the trial, an innovative assay was developed to measure non-caeruloplasmin bound copper (NCC), the free and potentially toxic pool of copper in the blood.
  • The results of the CHELATE trial mark an important milestone for the Wilsons disease community, providing further evidence on the efficacy of trientine tetrahydrochloride for prescribing physicians and evidence-based options for patients.
  • Orphalan commercializes Cuprior, its trientine tetrahydrochloride product for the treatment of Wilsons disease in Europe, and will be launching Cuvrior, recently approved by the FDA, in the US.

Orphalan announces publication of results from the CHELATE trial in The Lancet Gastroenterology & Hepatology

Retrieved on: 
Friday, September 30, 2022

It was the first treatment for Wilson's disease to be approved by the FDA in over five decades.

Key Points: 
  • It was the first treatment for Wilson's disease to be approved by the FDA in over five decades.
  • During the trial, an innovative assay was developed to measure non-caeruloplasmin bound copper (NCC), the free and potentially toxic pool of copper in the blood.
  • The results of the CHELATE trial mark an important milestone for the Wilsons disease community, providing further evidence on the efficacy of trientine tetrahydrochloride for prescribing physicians and evidence-based options for patients.
  • Orphalan commercializes Cuprior, its trientine tetrahydrochloride product for the treatment of Wilsons disease in Europe, and will be launching Cuvrior, recently approved by the FDA, in the US.

Ultragenyx Initiates Cyprus2+, a Pivotal Clinical Trial Evaluating UX701 Gene Therapy for the Treatment of Wilson Disease

Retrieved on: 
Monday, October 18, 2021

This study evaluating UX701 for the potential treatment of Wilson disease is designed with 3 seamless stages.

Key Points: 
  • This study evaluating UX701 for the potential treatment of Wilson disease is designed with 3 seamless stages.
  • In stage 2, a new cohort of patients will be randomized 2:1 to receive the selected dose of UX701 or placebo.
  • Wilson disease is a rare inherited disorder caused by mutations in the ATP7B gene, which results in deficient production of ATP7B, a protein that transports copper.
  • UX701 is an investigational AAV type 9 gene therapy designed to deliver stable expression of the ATP7B copper transporter following a single intravenous infusion.

Orphalan announces FDA acceptance for filing of New Drug Application (NDA) for trientine tetrahydrochloride (TETA 4HCl) for the treatment of Wilson’s Disease

Retrieved on: 
Thursday, September 2, 2021

Wilsons Disease is a rare inherited disorder of copper transport primarily affecting the liver and brain, affecting about 1 in every 30,000 people worldwide.

Key Points: 
  • Wilsons Disease is a rare inherited disorder of copper transport primarily affecting the liver and brain, affecting about 1 in every 30,000 people worldwide.
  • The Companys NDA submission follows its previous Orphan Drug Designation by the FDA.
  • Treatment with TETA 4HCl is supported by Orphalans novel NCC assay, for which the Company plans to file for FDA approval as a companion diagnostic.
  • Orphalan was founded in 2011 andhas launched Cuprior across Europe with its own commercial organisation.For more information, visit www.orphalan.health and follow us on LinkedIn .

CENTOGENE Expands Partnership with PTC Therapeutics to Generate New Insights for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Retrieved on: 
Wednesday, November 25, 2020

AADC deficiency is a life-shortening, ultra-rare genetic disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life.

Key Points: 
  • AADC deficiency is a life-shortening, ultra-rare genetic disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life.
  • The REVEAL CP study will screen patients for AADC deficiency with CentoCard CENTOGENEs CE-labeled dried blood spot collection kit by evaluating blood samples for above normal levels of 3-OMD.
  • Patients with elevated 3-OMD will be further tested for decreased levels of AADC enzyme activity and the presence of variants in the DOPA decarboxylase (DDC) gene.
  • PTC is proud to continue and expand our partnership with CENTOGENE.