We attended the Conference held in Turin from 25 to 28 January “Immune Pathology and Orphan Diseases 2017” organised by CMID (Interregional Coordination Rare Diseases Network of Piedmont and Valle d’Aosta) in cooperation with many universities and medical institutions. In particular, we focused on the session dedicated to innovative treatments in neuropathies and neuromuscular diseases.

The recent echoes we have heard relating to this subject are very interesting and promising. Many studies are ongoing and some therapies have already been scientifically approved and administered. The speeches related to some diseases wich have a number of important aspects in common with CMT2A were of particular concern to us. In particular:

• “Repositioned orphan medicines and rare diseases: the case of Leber Optic Hereditary Neuropathy”

Prof Tiziana Mongini (head of S.S. Neuromuscular Diseases, Neuroscience Department of San Giovanni Battista Hospital in Turin) spoke of new therapies against Leber Optic Hereditary Neuropathy, a rare disease due to mitochondrial DNA mutation which leads to the loss of vision. The interesting news was that a new medicin called IDEBENONE, very effective in relieving the progression of the disease, has been found: it is a synthetic form of Coenzyme Q10, a powerful antioxidant. The use of this medicinal product is being studied also for other mitochondrial diseases, for some neurodegenerative diseases and for Duchenne muscular dystrophy.

• “New treatments in Duchenne muscular dystrophy and Spinal Muscular Atrophy”

Dr Federica Ricci, from child neuro-psychiatry Department of Regina Margherita Children’s Hospital in Turin, presented the latest on SMA and DMD treatments. She spoke about the many studies on drug and gene therapy which are under way and about new drugs already approved for the treatment of some form of those diseases.

• “Respiratory insufficiency in neurodegenerative neuromuscular diseases”

Dr Fabrizio Racca, anaesthetist at the children’s hospital of Alessandria, said that the breathing situation of patients who suffer from neuromuscular diseases often having respiratory failure should be carefully monitored by a doctor. He recommended medical examinations on respiratory status and spirometries to evaluate the lung capacity. In case of chronic respiratory insufficiency, doctors will decide if you should have cough machine, non invasive mechanical ventilation, monitoring of saturation (blood oxygenation) or doing respiratory exercises. Furthermore, Dr Racca added that a special attention should be given to those patients in case they need an anesthesia, because not every anesthesia is good for them (we are going to discuss that in a moment more).

If you need more information about the Conference, do not hesitate to write us!