Beatrice Vola, can you briefly introduce yourself to our readers?

I live in the province of Sondrio and I teach in an art high school. I have 4 children, two attend university and two are in high school. Two of them have LGMD2E girdle muscular dystrophy or LGMDR4. My husband and I founded GFB ONLUS association in 2013, for the illness of our children.

Let's talk about GFB Onlus. When and for what purposes was it born?

GFB Onlus means Beta-sarcoglycanopathies Onlus Family Group and was born in 2013 because the disease that affected our children was unknown, there was no information, not even on the internet, there were no associations that specifically dealt with the disease, and above all they did not exist. research projects aimed at finding a cure for the disease. It was also our desire to meet other people with this disease. We have been active since 2010, when we created our website

The main purpose of the association is to finance scientific research on LGMD2E or LGMDR4, to find a cure for our families.

In particular, your Association focuses on beta-sarcoglycanopathies, but not only. Which pathologies are included in your interest?

We initially started in 2012 with the financing of a specific project for LGMD2E or LGMDR4, a gene therapy project, led by Prof. Jerry Mendell at Nationwide Children's Hospital in Columbus Ohio. This project was funded solely by our association with over $ 1,300,000.

Then our interest extended to all Limb girdle muscular dystrophies and in particular to the other three forms of LGMD2C (or LGMDR5) , LGMD2D (or LGMDR3) and LGMD2F sarcoglycanopathy.

At the moment we collect information on patients affected by these pathologies, both Italian and foreign. We started in 2010 with 5 patients and now we have more than 200 with sarcoglycanopathy and others with various Limb girdle muscular dystrophies.

Can you briefly tell us about the origin of this family of diseases and its effects on patients?

These diseases are recessive forms of genetic diseases, in which the alteration is present on only one gene. Each type of these diseases involves a different gene, and patients have a single defective protein.

The effect on patients is of various types, in the mildest forms the sick can walk up to 30-40 years and the progression of the disease is quite slow. In the most severe forms, however, the symptoms appear around the age of 6 and patients lose the ability to walk around the age of 12. Then problems also arise in the use of the upper limbs and in cardiac and respiratory function.

What can currently be done to combat beta-sarcoglycanopathies and other Limb girdle muscular dystrophies?

At the moment there are no resolutive therapies for these diseases, patients can only take cortisone-based drugs, which slow down the course of the disease a little.

In 2012 we discovered that the definitive solution for this disease could be gene therapy, that is a therapy that brings the correct gene into the cell, with the use of some viral vectors, and that reconstructs the missing protein. Since 2012 our efforts have focused on Prof. Mendell's gene therapy project. It was already underway for LGMD2D or LGMDR3 and we started a similar project for LGMD2E or LGMDR4.

What prospects does scientific research present us in the short and long term?

The GFB Onlus alone financed the preclinical phase of the gene therapy project on LGMD2E or LGMDR4, sending, starting from 2012, 1,300,000 dollars to American laboratories. All the results obtained were published in two scientific publications in 2015 and 2017.

On June 15, 2017, the GFB Onlus sent another $ 225,000 to Columbus, but this time the funds were sent for the establishment of the Myonexus Therapeutics Company. From today, the GFB Onlus is no longer alone but has joined other American bodies and two American patient foundations (for LGMD2D or or LGMDR3 and 2C or LGMDR5). The GFB is the only European entity present in the Company. Families are alone, in Italy and in the USA they must be the ones to set up these small associations to give hope to their loved ones.

The company's program is very ambitious, with the development of five new therapies expected by 2027.

A clinical trial for LGMD2E or LGMDR4 on the first patients in Columbus is planned as early as the end of 2017, which will then be extended to many other patients in 2020 and will be carried out in various clinical centers. The main goal of the GFB ONLUS is to bring the trial to Milan as soon as possible. In 2024 it is expected to arrive at drug recognition for LGMD2E or LGMDR4.

Another 4 forms of limb girdle muscular dystrophy (LGMD2C-2D-2B-2L) will be developed in the following years, by 2027. Subsequently, the therapy can also be applied to other genetic diseases.

The GFB Onlus is continuing following his commitment in support of therapy, the association's first SMS campaign, "Curiamoli 4.0", started in May, which will allow another payment to be made to the American company in 2018.

I noticed the logo of the Italian Union for the fight against muscular dystrophy on your website. What is your relationship with Uildm?

Most of the families in our group have been members of Uildm since before the GFB was born and are still active members of the association now. In 2014 the GFB organized the “LGMD DAYS” conference in Venice and on the third day the UILDM-GFB convention was signed, which formalizes the collaboration relationship between the two associations.

What message do you feel you are sending to those who discover they have a rare disease and to their families?

People who discover they have a rare disease feel very lonely, due to a lack of information about their disease. An effective way to carry out research and understand what we are talking about is certainly the web, therefore the internet and social networks. It is very important to be able to find associations that deal specifically with your disease, even if only informal groups on social networks.

My message is not to stand by, but to face the disease, without suffering it. The bureaucracy and the system around these diseases is complex today, but we must never give up!

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Via Civasca 112 23018 Talamona - SO  Italia

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