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rare disease

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

Brazil’s National Health Surveillance Agency (ANVISA) has moved to authorise Amryt’s Lojuxta (lomitapide) in the country as a treatment for the reduction of low-density lipoprotein cholesterol (LDL-C) in the rare condition homozygous familial hypercholesterolaemia (HoFH). 

The therapy is recommended as an adjunct to a low-fat diet and other lipid-lowering measures in adult HoFH patients, with or without low density lipoprotein (LDL) apheresis.

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

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

2020 has seen almost unprecedented disruption for life sciences at the hands of the COVID-19 pandemic. While the industry has somewhat acclimatised and the rollout of an effective vaccine could be around the corner, challenges remain.

Patient Experience: Living with Timothy syndrome

Published on 26/10/20 at 12:33pm

Thirteen-year-old Calvin Muir lives with the ultra-rare genetic condition Timothy syndrome. Like many parents of rare disease patients, his mother Sophie had a long and uphill struggle to secure a diagnosis, but together the two have helped push research into the condition and have even made a film.

Can you give us a bit of background on your son Calvin’s condition, Timothy syndrome?

How is COVID-19 impacting the rare disease community?

Published on 22/06/20 at 12:26pm
Image credit: Araruna, Brazil

The COVID-19 pandemic has altered the life of just about everyone, especially patients in receiving continued treatment and care. But what does it mean for patients who already have trouble accessing therapies or with finding and engaging with others like them? The Cambridge Rare Disease Network provides a window into the current experience of the rare disease community:

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

Image credit: Business Wire

Alnylam has presented promising new Phase 3 data at the European Renal Association-European Dialysis and Transplant Association International Congress for its RNA interference (RNAi) drug lumasiran in the treatment of primary hyperoxaluria type 1 (PH1), an ultra-rare kidney and urinary tract disease.

The condition is often characterised by painful and recurrent kidney stones and nephrocalcinosis, and can be fatal due to accumulation of crystalised oxalate in the eyes, skin, bones and heart.

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

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

The world remains in thrall to COVID-19; even as national governments try to instil some sense of control and stability enough to begin to fire their economies back up, everything is still seen through the veil of the pandemic. The life sciences industry has all of its big guns trained on one target, and day by day it pushes our knowledge of COVID-19 and how we can beat it.

Living with multiple ‘invisible’ conditions

Published on 26/05/20 at 01:05pm

Darren Taylor lives with a range of conditions including Dercum's disease, cystic fibrosis, fibromyalgia with chronic fatigue, and Tietze syndrome, many of which are misunderstood. He relays the impact that these coexisting conditions have had on his life, and discusses in his personal experience the social attitudes that the public and even medical staff have towards non-visible conditions.

Can you retrace your steps to how you reached your numerous diagnoses? 

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

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

There’s one big story on everyone’s mind, and with the whirlwind of information (and misinformation) around the COVID-19 pandemic, it’s easy to get disorientated. The latest issue of Pharmafocus aims to cut through that by providing a blow-by-blow account of some of the key milestones on the journey to where we are today.

Patient Experience: Living with multiple rare diseases

Published on 17/02/20 at 11:59am

Carole Scrafton discusses her experience living with Ehlers-Danlos syndrome alongside other rare conditions that have manifested throughout her life, and introduces her charity FibroFlutters, which aims to reach out and help others living with rare diseases around the world.

Can you talk us through each of your diagnoses? Rare disease patients often relate the difficulty in finding diagnoses or even medical professionals who have heard of their condition. This must have been even truer in your case?

Patient experience: Living with desmoid fibromatosis

Published on 04/12/19 at 12:51pm

Lisa Pascoe lives with a rare, benign desmoid tumour in her abdomen. She opens up to Pharmafocus on her diagnosis and experience with the UK healthcare system, as well as her advocacy for Desmoid United UK and her proactive approach to change things for the better.

Can you explain a bit about your condition?

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Site content is produced by our editorial team exclusively for and our industry newspaper Pharmafocus. Service company profiles and listings are taken from our pharmaceutical industry directory, Pharmafile, and presented in a unique Find and Compare format to ensure the most relevant matches