• First therapy to treat two types of Niemann-Pick disease, a rare genetic metabolic disorder: Xenpozyme (olipudase alfa), a therapy for the treatment of non-central nervous system (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD), a rare and progressive genetic disease. Xenpozyme is indicated for use in children and adults of all ages with type A/B or type B ASMD. Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), ASMD is a genetic disorder.

• First treatment for children with Progeria or progeroid like syndromes (rare premature aging syndromes): Zokinvy (lonafarnib), a treatment for patients with a genetically confirmed diagnosis of Hutchinson-Gilford Progeria Syndrome or progeroid laminopathies. Zokinvy is indicated for use in children one year of age and older.Hutchinson-Gilford Progeria Syndrome is an ultra-rare multi-systemic ‘premature aging’ disease.

• First therapy to treat rare genetic nervous system disorder AADC deficiency: Upstaza (eladocagene exuparvovec), a therapy for the treatment of adult and paediatric patients with severe aromatic L-amino acid decarboxylase (AADC) deficiency with a genetically confirmed diagnosis. AADC deficiency is an ultra-rare, inherited genetic disease which typically manifests within the first year of life.

• First gene therapy to treat severe haemophilia A: Roctavian (valoctocogene roxaparvovec) for the treatment of severe haemophilia A in adults who do not have factor VIII inhibitors (auto-antibodies produced by the immune system which make factor VIII medicines less effective) and no antibodies to adeno-associated virus serotype 5 (AAV5). Patients with haemophilia A cannot produce factor VIII (an essential protein required for blood to clot and stop bleeding); they are more prone to bleeding and have prolonged bleeding, e.g. after injury or surgery. Haemophilia A is a rare debilitating disease affecting approximately 0.7 in 10,000 people in the EU.

The webinar will take place on September 27, 2021 from 16.00 – 17.00 CET.

This webinar will present the value of health preference research to study the promise of gene therapy in rare diseases, through three short presentations in which the speakers will present their respective studies on gene therapy in Duchenne muscular dystrophy, spinal muscular atrophy (SMA), and hemophilia. This will be followed by a moderated discussion on the specific value of health preference research in this context, and the interpretation and implications of the outcomes.

More information and registration here: https://www.ispor.org/conferences-education/calendar/event/2021/09/27/default-calendar/health-preference-research-in-the-context-of-gene-therapy-in-rare-diseases

In this scenario, the European Paediatric Translational Research Infrastructure (EPTRI) and the EU-funded RESTORE project are collaborating to describe the map of competences available in the framework of the paediatric ATMP research in pan-European countries in order to have the chance to promote the development of tailored paediatric advanced drugs and facilitate collaborations.

To this aim, a survey has been developed and it is available at this link.

The survey is addressed to professionals involved in the development of ATMPs and it takes around 20 minutes to complete.

gene therapy SKYSONA

SKYSONA, developed by bluebird bio, is a one-time treatment which can only be given in a specialised hospital by doctors who are experienced in treating patients with CALD, transplanting bone marrow, and using gene therapy medicines. This therapy was accepted into PRIME, a support scheme developed by EMA for promising new medicines that address an unmet medical need.

Path to patient access: The EMA opinion will now be sent to the European Commission (EC) for the adoption of a decision on an EU-wide marketing authorisation. Once a marketing authorisation has been granted, decisions about price and reimbursement will take place at the level of each Member State in the context of the national healthcare system.

More information here: https://www.ema.europa.eu/en/news/first-gene-therapy-treat-children-rare-inherited-neurological-disease

The webinar will take place on May 11, 2021 from 12.00 – 13.00 CET.

The event will discuss how innovation in gene and cell-based medicine can bring a transformative value for patients, with the following themes:

• The cutting-edge science behind gene therapies, why they are considered so transformative, and what promise they hold to addressing unmet patient needs.
• The changing paradigm of providing health for cancer patients and how innovation will help achieve the objectives of Europe’s Beating Cancer Plan.
• The webinar will also engage policy makers reflecting live on how EU policies can truly harness the ground-breaking potential of advanced therapies.

More information and registration here: https://www.europabio.org/event/taking-health-medicine-up-a-gear-value-of-advanced-therapies/