Informazione

Pivot-HD: new hope for the treatment of Huntington Disease

PTC518 is a small molecule capable of reducing the protein that causes Huntington's disease (HD).

Pridopidine has a long history. The drug was initially tested by the NeuroSearch company which believed that it had an effect on dopamine as its main mechanism and was therefore able to act on movement coordination. On this assumption, starting from 2007, two studies were conducted, MermaiHD and HART, both failed.

In 2012, Teva Pharmaceuticals bought the right to test pridopidine again and promoted a third study, PRIDE-HD, which tested different doses, again with the aim of verifying the drug's effects on motor function.

The Rare Disease Day 2023  theme is the metaphorical 'journey' that a person with a rare disease takes before receiving the diagnosis. This 'journey', in European Countries, lasts about 4 years.

LIRH Foundation, as always, supports the official Eurordis campaign, implemented in Italy through Uniamo - the Italian Federation of Rare Diseases and contributes with its own specific message.

The last five years have led to great milestones in the history of Huntington's disease research. At least three can be highlighted:

1) The setting up of the largest research network ever created for a rare disease, capable of connecting researchers from all over the world;

2) The launch of experimental therapies potentially capable of modifying the course of the disease by directly affecting its cause;

As always, we are closely following the developments of the HD ongoing trials. Unfortunately, not too encouraging news arrives on the studies of Novartis (with branaplam) and UniQure (gene therapy with AMT-130). Both pursue the strategy of huntingtin lowering, both mutated and normal length - with different tools - to counter Huntington's disease.

The Abbey of San Miniato al Monte, one of the most visited places by people from all over the world, a splendid synthesis of art, spirituality and history, together with the Municipality of Florence, participates in the International HD Awareness Month through a symbolic initiative of great significance: on Thursday 26 May at 9.30 pm the Abbey will light up in purple magenta, the color of the LIRH Foundation - and will remain illuminated also the following evening - to testify proximity to those who face and fight Huntington's disease.

In the HD Awareness Month, LIRH Sardinia Association promotes a meeting open to Huntington families, to share spaces and times, thoughts, needs and information on the current available therapeutic options and on the disease management.

"Sardinian families have been isolated for too long." - said Alessia Zurru, President of the LIRH Sardinia Association - The time has come, also for us, to be taken in charge and to access experimental programs ".

We are happy to announce that last Saturday, March 19, 2022, on the initiative of a group of patients and family members willing to advocate for their right to treatment, the Italian League Huntington Research Association (LIRH) Sardinia was officially born.

On the occasion of World Rare Disease Day 2022, we asked HD patients, researchers and practitioners what color they associate with Huntington's disease and why.

we are the italian league for research on huntington disease and these are our colors!!

On the last February 2, 2022 uniQure sent out a press release with new updates on their gene therapy for Huntignton Disease.