By Fabiola M. Bertinotti (volunteer and international representative of the association at the most important organizations for FSHD)

 

The TOP question

The queen of all the questions coming from the world of FSHD patients is “when will we have a cure?”. In more concrete terms, this question translates into understanding what the panorama of the various scientific studies currently underway in the world looks like.

The UILDM FSHD patient group has explored this topic for you, so here is my testimony. When I started my career as a patient lawyer in 2005, the genetic mechanism that gives rise to the FSHD had not yet been discovered, and without it, of course, one could not even dream of catching a glimpse of a cure. Things are different today. In 2010, the mechanism of the genetic defect was identified and, subsequently, the scientific world agreed that the DUX4 protein is the main culprit of the disease.

  

The response from IRC 2022

The UILDM FSHD group followed the two intense days of the International Research Congress (IRC) organized by the FSHD Society for patients and today we are pleased to offer you a brief overview of the ongoing research, overview that we will develop even more clearly and accomplished in a forthcoming webinar organized by UILDM-FSHD. In fact, it should be noted that UILDM is a member responsible for the communication of the international research project EPIThe4FSHD led by Dr Davide Gabellini. This will continue to produce beneficial effects of updating and communication in terms of information for the public of patients, as well as offering timely updates on EPIThe4FSHD research.

 

Let’s understand the process together

In order to facilitate the understanding of the diagram, it must first be explained what it is and how to read it in simple and understandable terms.  This chart represents the pipeline of FSHD research, that is the process of developing a clinical trial as provided by the FDA, the Federation Drug Administration. The FDA represents the American agency that supervises and ensures that the drugs that reach the public meet all the criteria imposed to protect the patient; just to be clear, the European equivalent of the FDA is the EMA, European Medicine Association which has been heard a lot during the time of Covid. Let’s get to the point: the diagram shows that in the United States the research process for the development of the drug begins with an initial phase aimed at identifying the potential therapeutic target (Target ID); such a target may be a gene or protein involved in the disease process. At this stage many potential therapeutic agents are selected to find the one that has the best features to be a drug (lead optimization). Subsequently, the scientific laboratory will conduct what are called preclinical studies (often in animal models) in order to be able to claim that the drug will be safe and effective; This phase includes the so-called IND-enabling studies to generate the essential data to be submitted to the regulatory agency (the FDA) in the form of an investigation application for new drugs (IND). If the IND is granted, the laboratory will start the clinical trial or trial which, generally, involves three stages [Step 1: Investigate the efficacy of dosages, the interaction with the body and the assessment of possible side effects; Step 2: Research is extended to more volunteers; Step 3: further widening of the scope of the study on a more extended number of patients internationally, always in the maximum respect of the fundamental criteria for patient safety]. If the drug completes Phase 3 with the highest number of volunteers and with outcomes indicating that the active substance provides a significant benefit to patients, then the scientific laboratory may submit the application for a new drug to the FDA regulatory agency, by requesting an authorization to place the drug on the market. Such application is called NDA, or New Drug Application. Needless to say, the process described above requires the utmost professionalism on the part of the researchers and all the staff involved, a broad involvement of patients who must be put in a position of greater safety and convenience in accessing the scientific trial and, of course, a substantial financial budget because research has huge costs.

 

Various projects

Having said that, the graph finally appears clearer and we can appreciate a good number of research projects by understanding what stage they are at. Note that Lospaminod, the active ingredient currently used by the American company Fulcrum Therapeutics, has reached phase 3. But the good news does not end here! As you can see, several other research projects are under development. Definitely, today the hopes are much more concrete and that is why we invite you to visit the site of FSHD Society and to register here for more information.

 

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