Rare diseases, Ucb confirms its commitment with special initiatives scheduled for the month of June

2023-06-01 11:07:30

The month of June is full of initiatives dedicated to some rare and ultra rare diseases Ucb Pharma. On the calendar the Belgian biopharmaceutical company has a number of events for neurological pathologies (forms of epilepsy such as Dravet syndrome, Lennox-Gastaud syndrome and Cdkl5), immunological (myasthenia gravis) e mitochondrial (TK2d, an ultra rare disease), for which he has developed innovative therapies, changing the history of the disease and improving the lives of patients and their families.

For the Dravet syndrome, whose World Day is celebrated on 23 June – informs UCB in a note – a reading is scheduled within the 46th National Congress of the Italian League against Epilepsy (Lice), in Naples from 7 to 9 June. This rare type of epilepsy begins in childhood and is characterized by seizures that are difficult to treat with anti-seizure drugs, cognitive, behavioral and motor disturbances that persist into adulthood. For this serious pathology, Ucb has developed a drug that has been on the Italian market for about a year.

“Reducing the frequency of seizures – he explains Simona Borroni, president of the Dravet Onlus family group association – is the first important step in the treatment of children with Dravet syndrome, regardless of age. Those affected by this pathology do not respond uniformly to the available therapies. Most patients are subjected to important pharmacological polytherapies which involve side effects, and which do not allow the control of epileptic seizures. For this reason, we view with great interest any new therapy that can offer added value and represent a step forward in improving seizure control, breaking down the limits they set for carrying out a full social life. For the future, we hope that research will also conduct more studies on adult patients, to allow this part of the population to benefit from the new therapies according to adequate dosages”. Isabella Brambilla, president of Dravet Italia Onlus: “The new therapeutic options certainly offer new concrete benefits in the control of epileptic seizures, however not for all patients. For this reason the Residras Pathology Registry (dravet-registry.com), with regular annual follow-ups, will allow to add evidence of efficacy in patients and to analyze the most effective therapeutic combinations. It will also monitor long-term safety and efficacy, as well as any other benefits in behavioral and psycho-intellectual terms”.

Ucb – continues the note – has recently obtained EU approval for a drug indicated in Lennox-Gastaud syndrome, a severe childhood epileptic encephalopathy characterized by several types of drug-resistant seizures. Furthermore, the approval process is underway at European level for another rare form of epilepsy, Cdkl5, which manifests itself during the first weeks of life with drug-resistant epileptic seizures, and in the later phases with absence of language and a motor disability and severe cognition.

Again, for the myasthenia gravis, whose World Day is celebrated on June 2, during the 23rd National Congress of the Italian Myology Association (Aim), in Padua (June 8-10), some symposiums and readings dedicated to the pathology will be held. Furthermore, on 22 June, Uniamo-Italian Federation of Rare Diseases will organize a dedicated event, also thanks to the support of Ucb. Myasthenia gravis – recalls the company – is a rare, chronic, fluctuating autoimmune disease characterized by morphological and functional alterations responsible for the disturbance of neuromuscular transmission at the level of the neuromuscular junction. It manifests itself with palpebral ptosis (drooping of the eyelids), double vision, difficulty swallowing, chewing, speaking, breathing. Two phase 3 studies conducted by UCB were recently published in ‘The Lancet Neurology’ for this pathology: MycarinG and Raise.

Finally, in the very heterogeneous area of mitochondrial diseases the company is developing a treatment for Tk2 deficiency, a pathology in which there is a thymidine kinase 2 deficiency, at an advanced stage. The mitochondria are unable to supply the necessary energy to the cells: hence the serious weakness muscle and a series of symptoms that may involve breathing, walking, swallowing, up to the loss of these abilities.

“The basis of our commitment to rare diseases – he says Federico Chinni, CEO of Ucb Pharma Italia – there is the awareness that many of these are often orphan pathologies, of limited interest to researchers and doctors, for which no therapy is available. Choosing to undertake this path for Ucb meant committing oneself with courage and responsibility, to make a difference in the lives of patients with pathologies that are still little known and not properly treated. Our goal is to transform the life of every single person with a rare disease by developing innovative medicines, improving diagnostics and exploring new approaches to treatment.”

In this regard, continues the CEO, “Ucb aims to carry out research programs aimed at personalizing therapies through the identification of genetic characteristics, to respond to the specific needs of individual patients. Using new digital health technologies, we are helping to reshape the landscape of what it is like to live with a rare disease. Anyone living with a rare disease knows that it often requires complex and demanding lifelong management, especially when it comes to children. For this reason, the company works closely with all players in the health system, to create collaborations and partnerships with communities of experts, patient associations and doctors, so that the voice of the sick is ever more present, making it possible to find ‘designed’ solutions on their needs”.