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rare disease

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?

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

The FDA has moved to expand the existing label for Alexion’s Ultomiris (ravulizumab-cwvz) to include the treatment of atypical haemolytic uremic syndrome (aHUS) to inhibit complement-mediated thrombotic microangiopathy in patients aged one month and older.

Atypical HUS is an ultra-rare condition characterised by blood clots and progressive damage to walls of blood vessels, leading to loss of function or even sudden failure of vital organs, particularly the kidneys.

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

Boehringer Ingelheim’s Ofev (nintedanib) capsules have now secured marketing authorisation in the US, it has emerged, for the treatment of interstitial lung disease associated with systemic sclerosis or scleroderma (SSc-ILD), a rare lung condition.

The decision, made under the FDA’s Priority Review pathway, was supported by data which demonstrated that the drug reduced lung function decline compared to placebo, and makes Ofev the first and only FDA-approved therapy to slow the rate of decline in this condition,

Finding the needle in the haystack of rare disease

Published on 19/08/19 at 11:53am

Through the use of Genomenon’s AI-driven Mastermind Genomic Search Engine, the Rare Genomics Institute succeeded where a leading genetics laboratory had failed in securing diagnosis for an ultra-rare disease patient. Romina Ortiz, Chief Operating Officer and Vice President, Patient Advocacy at the Institute explains how the platform could prove transformative in tackling the challenges of ultra-rare disease diagnosis.

Rare genetic diseases pose a challenge for diagnosis in three ways.

Celgene's Inrebic becomes second FDA-approved therapy for rare bone marrow disorder

Celgene is celebrating the approval in the US of its Janus kinase (JAK) 2 inhibitor Inrebic (fedratinib) in the treatment of intermediate-2 or high-risk primary or secondary myelofibrosis, a rare disorder of the bone marrow.

A chronic condition, myelofibrosis is characterised by the formation of scar tissue in the bone marrow, disrupting the production of blood cells and leading to severe anaemia and the enlargement of the body’s organs.

Regeneron therapy halves LDL cholesterol levels in rare genetic condition

Regeneron has reported a strong showing for its investigational angiopoietin-like 3 (ANGPTL3) antibody evinacumab in the treatment of the rare genetic condition homozygous familial hypercholesterolemia (HoFH), showing that the therapy met its primary endpoint.

The trial examined the efficacy of evinacumab in patients who, despite treatment with other lipid-lowering therapies including maximally-tolerated statins, PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors, ezetimibe, LDL apheresis and lomitapide, had an average LDL cholesterol level of 255mg/dl.

Living with a rare genetic neurodevelopmental disorder

Published on 05/08/19 at 12:36pm

Vaila Morrison’s daughter Eilidh was born with the ultra-rare condition KAT6A. As a designer and architect by profession, Vaila told Pharmafocus the ways in which having daughter with a disability transformed the way she sees the world.

What can you tell us about KAT6A?

Living with mal de debarquement syndrome

Published on 01/07/19 at 11:40am
Dr Dai, Dr Mucci and Dr Yakushin at the 2018 Barany Society Meeting

Polly Moyer reflects on her experiences living with the rare condition mal de debarquement syndrome, and discusses how connecting with other rare disease patients in professional and personal contexts has helped her maintain optimism. 

Can you provide a bit of background on mal de debarquement syndrome?

Alnylam and Sanofi close research phase of 2014's $700m RNAi rare disease partnership

Alnylam and Sanofi have announced their intention to bring to an end the research and option phase of a $700 million partnership originally launched in 2014 to develop RNAi therapeutics for rare conditions.

As part of the collaboration, Sanofi’s rare disease unit Genzyme snapped up the global rights to three Alnylam drugs: patisiran, vutrisiran and fitusiran. The unit had previously licensed the rights to patisiran in the treatment of hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) in 2012.

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