Edition of 30 July 2019

A new electronic reporting tool is now implemented by Endo-ERN called e-REC for e-Reporting Of Rare Endocrine Conditions. It records and measures core indicators of ERN activity and facilitates gains in knowledge regarding the occurrence of rare endocrine conditions. This allows for a mapping of the conditions, the services and other related activity. Doctors will be asked to indicate whether over the last month they have encountered any new cases of the conditions that are included in Endo-ERN and the information will be sent to the centralised office. A report on the first six months activity on the pilot phase is available on the e-REC webpage and all centres can sign up to report on the e-REC webpage.

Baroness Blackwood, rare disease minister, made a speech on 10 July 2019 at the British Paediatric Surveillance Unit rare disease summer tea party at the Royal College of Paediatrics and Child Health. She spoke of her personal quest for a diagnosis when she was a child and how she was honored to be the rare disease minister. She announced the NHS insert which represents a way to hold providers to account and improve services for rare diseases. Providers will report on three criteria: care coordination, an alert card and transition. She also declared her intention to lead a national conversation on rare diseases.

A recent study published in Genomics, focused on drug repurposing and how drug databases could foster the latter. Indeed, the article states that they can be highly beneficial in providing a tool facilitating repurposing applications. Nonetheless, the authors points to the fact that their potential is not fully exploited and could be well emphasised. It is suggested for these databases to be more available, updated, free, fully downloadable, and responsive for them to be more effective for drug repurposing purposes.

It recommended granting a marketing authorisation for Cufence (trientine dihydrochloride), for the treatment of Wilson’s disease, a rare inherited disorder that causes copper to accumulate in the liver, brain and other vital organs.

The CHMP adopted a negative opinion recommending the refusal of a marketing authorisation for Xyndari(glutamine). Xyndari was expected to be used to treat sickle cell disease, an inherited form of anemia.

Applications for initial marketing authorisations for Radicava (edaravone) have been withdrawn.

The COMP adopted 12 positive opinions recommending medicines for designation as orphan medicinal products to the European Commission, for:

• treatment of maternally-inherited diabetes and deafness
• treatment of Angelman syndrome,
• treatment of haemophilia A
• treatment of spinal muscular atrophy
• treatment of beta-thalassaemia intermedia and major
• treatment of centronuclear myopathies
• treatment of acute radiation syndrome
• treatment of Duchenne muscular dystrophy
• driving the expression of a secretable form of human acid alpha-glucosidase for treatment of glycogen storage disease type II (Pompe's disease)
• treatment of glioma
• treatment of argininosuccinic aciduria
• treatment of hyperargininaemia

The COMP also noted that 6 applications for orphan medicinal product designation were withdrawn by the sponsor before adoption of the COMP opinion.