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Research

Fundamental research

To make the right clinical decisions or develop effective diagnostic test and treatment, it is important to understand the underlying mechanisms of a disease. Therefore, (fundamental) research is essential. FSHD was first distinguished as a disease in the 1870s and 1880s. In the following years the DUX4 gene was discovered, and the genetic mechanism was elucidated in 2010. To see an overview of the findings in FSHD click on the button below.

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Drug development

The first step in drug development is finding a target or biological disease mechanism, that can be modified by a therapy. In case of FSHD, the DUX4 gene is considered as target. Candidate compounds are identified based on their ability to “engage the target” and alter the disease mechanism (typically done in a test tube). Compounds that have the best properties to succeed as a drug are selected to be a “lead” (this is “lead optimization”). Lead compounds then go through a series of “preclinical” experiments, such as testing in an animal model. If a compound looks promising, a company may seek permission from the European Medicines Agency (EMA) to begin clinical trials in humans. The drug must then go through several trial phases before the company can file a new drug application, seeking permission from the EMA to put the drug on the market.

Not only newly developed compounds or drugs can be tested, but there are also the so-called repurposed drugs. These are compounds that were developed for other diseases and tested in the clinic. Some of them may have been approved for treatment of a specific disease, while others may have been shown to be safe but failed to be effective in these other indications and thus were abandoned. When a repurposed drug is found to work in the ‘engage the target’ stage, it can often rapidly advance to the clinic, saving years and millions of dollars in preclinical testing.

Currently many pharmaceutical companies and academic labs are engaged in FSHD drug development.

The pipeline

What is a clinical trial?

Clinical trials are a type of research that studies new tests (outcome measures) and treatments and evaluates their effects on human health outcomes. People volunteer to take part in clinical trials to test medical interventions (such as drugs, biological products, surgical procedures, devices, behavioral treatments, and preventive care).

Clinical trials are carefully designed, reviewed, and completed, and need to be approved before they can start. In clinical research, a specific group of patients is selected to participate based on set inclusion and exclusion criteria that define who can be included or excluded from the study. The inclusion criteria identify the study population in a consistent, reliable, uniform, and objective manner. The exclusion criteria include factors or characteristics that make patients ineligible for the study. These factors may be confounders for the outcome parameter.

There are 4 phases of clinical trials:

  • Phase I studies usually test new drugs for the first time in a small group of people to evaluate a safe dosage range and identify side effects.
  • Phase II studies test treatments that have been found to be safe in phase I but now need a larger group of human subjects to monitor for any adverse effects.
  • Phase III studies are conducted on larger populations and in different regions and countries and are often the step right before a new treatment is approved.
  • Phase IV studies take place after country approval and there is a need for further testing in a wide population over a longer timeframe.
Clinical trials

Participate in research

Although many breakthroughs and insights were gained over the past years of research, there is still no treatment available for FSHD. Therefore, patient participation is indispensable. When you participate in research, you:

  • help researchers understand how FSHD progresses;
  • help establish the tools needed to see if new drugs are effective;
  • increase understanding of the costs of living with FSHD;
  • advance knowledge about the diversity in the FSHD community;
  • improve care at the doctor’s office.

If you want to participate in research, it is important to register in a patient registry.

Learn more about research?

When you are interested to learn more about scientific research concerning FSHD, you can search on PubMed. fshd – Search Results – PubMed (nih.gov)

If you want to learn more about research in general or other interesting topics, look at the EURORDIS Open Academy for free online courses:

Learn with the EURORDIS Open Academy – EURORDIS Open Academy

Patient registries

Patient registries are databases containing information about individuals who are affected by a specific disease, such as FSHD. In rare diseases, they play an important role in the development of new therapies.

Registries can:

  • Identify participants in clinical trials
  • Help develop care standards, to help improve the care people receive
  • Support specific research questions for doctors and scientists
  • Contribute to the natural history of FSHD
  • Provide a link to the research community enabling people to receive information directly relevant to their condition.

We encourage all FSHD patients to register yourself in a national patient registry. Not all countries may have a specific FSHD patient registry, some have neuromuscular registries. Please contact the patient organization in your country or ask your healthcare provider to learn more about this.