rare disease

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FDA approves first ever treatment for rare CHAPLE disease

August 21, 2023
Research and Development CHAPLE disease, FDA, Rare Diseases, rare disease

The US Food and Drug Administration (FDA) has approved Regeneron’s Veopoz (pozelimab), a new treatment for CHAPLE disease for both …

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AstraZeneca’s Alexion partners with Pfizer for rare disease therapies

July 28, 2023
Research and Development Alexion, AstraZeneca, Pfizer, Rare Diseases, genomics, rare disease

Alexion, AstraZeneca’s Rare Disease division, has announced that it has entered a definitive purchase and licence agreement with Pfizer. The …

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Amryt’s Lojuxta approved in Brazil to reduce cholesterol in homozygous familial hypercholesterolaemia patients

December 9, 2020
Research and Development, Sales and Marketing Amryt, Brazil, rare disease

Brazil’s National Health Surveillance Agency (ANVISA) has moved to authorise Amryt’s Lojuxta (lomitapide) in the country as a treatment for …

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The Autumn 2020 edition of Pharmafile is available to read for free online now!

December 1, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing infectious diseases, pharmafile, rare disease, respiratory

The Autumn 2020 edition of Pharmafile is available to read for free online now! 2020 has seen almost unprecedented disruption …

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Patient Experience: Living with Timothy syndrome

October 26, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing Timoty syndrome, feature, patient experience, rare disease

Thirteen-year-old Calvin Muir lives with the ultra-rare genetic condition Timothy syndrome. Like many parents of rare disease patients, his mother …

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How is COVID-19 impacting the rare disease community?

June 22, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing COVID-19, cambridge rare disease network, pharma, rare disease

The COVID-19 pandemic has altered the life of just about everyone, especially patients in receiving continued treatment and care. But …

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Alnylam’s lumasiran hits main Phase 3 goal in rare renal disease primary hyperoxaluria type 1

June 9, 2020
Manufacturing and Production, Research and Development Alnylam, lumasiran, pharma, rare disease

Alnylam has presented promising new Phase 3 data at the European Renal Association-European Dialysis and Transplant Association International Congress for …

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The June 2020 issue of Pharmafocus is available to read free online now!

May 27, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing COVID-19, Vaccine, coronavirus, data management, pharma, rare disease, treatment access

The latest monthly edition of Pharmafocus, the June 2020 issue, is available to read for free online now! The world remains …

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Living with multiple ‘invisible’ conditions

May 26, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing feature, patient experience, rare disease

Darren Taylor lives with a range of conditions including Dercum’s disease, cystic fibrosis, fibromyalgia with chronic fatigue, and Tietze syndrome, …

Feature

The April 2020 issue of Pharmafocus is available to read free online now!

April 1, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing COVID-19, UK, US, coronavirus, generic medicines, pharma, rare disease, real world data, real-world data

The latest monthly edition of Pharmafocus, the April 2020 issue, is available to read for free online now! There’s one …

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Patient Experience: Living with multiple rare diseases

February 17, 2020
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing feature, patient experience, pharma, rare disease

Carole Scrafton discusses her experience living with Ehlers-Danlos syndrome alongside other rare conditions that have manifested throughout her life, and …

Feature

Patient experience: Living with desmoid fibromatosis

December 4, 2019
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing desmoid fibrosis, feature, patient experience, pharma, rare disease

Lisa Pascoe lives with a rare, benign desmoid tumour in her abdomen. She opens up to Pharmafocus on her diagnosis …

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FDA approves Alexion’s Ultomiris in atypical haemolytic uremic syndrome for adults and children

October 21, 2019
Sales and Marketing Alexion, FDA, Ultomiris, pharma, rare disease

The FDA has moved to expand the existing label for Alexion’s Ultomiris (ravulizumab-cwvz) to include the treatment of atypical haemolytic …

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Boehringer’s Ofev scores first-of-its-kind FDA approval in rare lung disease

September 10, 2019
Manufacturing and Production, Sales and Marketing Boehringer Ingelheim, FDA, US, lungs, ofev, pharma, rare disease

Boehringer Ingelheim’s Ofev (nintedanib) capsules have now secured marketing authorisation in the US, it has emerged, for the treatment of …

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Finding the needle in the haystack of rare disease

August 19, 2019
Business Services, Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing AI, Genomenon, Rare Genomics Institute, pharma, rare disease

Through the use of Genomenon’s AI-driven Mastermind Genomic Search Engine, the Rare Genomics Institute succeeded where a leading genetics laboratory …

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