Implications for pharmaceutical companies and clinicians from the Bayer v NHS judgement: an increasing budgetary focus for both.

The English High Court recently dismissed the Bayer pharmaceutical company's challenge against a regional clinical commissioning group's policy allowing NHS Trusts to use a cheaper, but unlicensed, alternative to a sight preserving eye treatment. This makes sober reading for companies marketing "on-label" sales of medicines which are more expensive than off-label or unlicensed alternatives. Unsurprisingly, Bayer has sought to appeal the judgement.

Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and management.

Background: Danon disease is an X-linked disturbance of autophagy manifesting with cognitive impairment and disordered heart and skeletal muscle. After a period of relative stability, patients deteriorate rapidly and may quickly become ineligible for elective heart transplantation - the only life-saving therapy.

Methods: We report a large pedigree with diverse manifestations of Danon disease in hemizygotes and female heterozygotes.

Brexit and rare diseases: big risk, bigger opportunity?

The UK's planned exit from the EU will leave its national health sector in a very dangerous position. It will also have profound consequences for domestic UK law. The impact may be particularly drastic for patients for whom EU law protects the right to treatment.

Saving orphan drug legislations: misconceptions and clarifications.

Orphan-drug sales are rocketing, with revenue expected to total $176 billion annually by 2020. As a share of the industry, orphan drugs now account for close to 15% of all prescription revenue globally (excluding generics) and the sector is set to grow at more than twice the rate (10.5%) of the overall prescription market (4.

Compassionate use of orphan drugs.

Background: EU regulation 726/2004 authorises manufacturers to provide drugs to patients on a temporary basis when marketing authorisation sought centrally for the entire EU is still pending. Individual Member States retain the right to approve and implement such 'compassionate use' programmes which companies will usually provide for free. Nevertheless some companies have opted not to partake in such programmes, in effect restricting access to drugs for patients in need.

The legal imperative for treating rare disorders.

Background: Life-saving orphan drugs are some of the most expensive medicines. European Union governments aim to accommodate their provision within stretched healthcare budgets but face pressure to reduce funding of such treatments. Patients struggle to retain or gain access to them as their special status is questioned, causing distress and in some cases, fears of premature death.