Welcome to our series of interviews dedicated to the leading figures in the world of biomedical research and development. Today, we are privileged to have a conversation with Professor Dastoli, a distinguished expert in the field of biotechnology and regenerative medicine. In this dialogue, we will address some of the most significant challenges and discoveries in the field, exploring how these innovations are redefining the boundaries of what is possible in terms of disease treatment and care.

During the interview, Professor Dastoli will answer critical questions such as the definition and importance of Clinical Trials, the role of Orphan Drugs in the treatment of rare diseases, and the specific prospects and challenges in the trials of these drugs. Join us in this in-depth exploration of the dynamics transforming the global health landscape.

1. What is a Clinical Trial? Why is it important, and how is it developed?

A Clinical Trial, or Clinical Study, is a fundamental type of research to test the safety and efficacy of new treatments, including drugs, cells (so-called Advanced Therapies), and other biological products, or surgical procedures, radiological procedures, devices, and preventive care. Some studies may have an “observational” purpose to evaluate the progression of certain parameters and/or effects of therapies that may be missed in the course of normal clinical practice. Clinical trials are carefully designed, reviewed, and completed and must be approved by Regulatory Authorities and the Ethics Committee before they can begin. Individuals who participate in clinical trials volunteer after being adequately informed about the goals of the study, the possible risks, and benefits. People of all ages, including minors and children, can participate in clinical trials. In such cases, consent to participate will be provided by the parents or guardian, after the goals of the study are also explained to the child, and assent is sought based on age and maturity.

2. What is an Orphan Drug, and why is spinal cord injury classified as a rare disease?

So-called Orphan Drugs are used for the prevention and treatment of rare diseases. In Europe, a disease is considered rare when it affects no more than 5 people per 10,000 inhabitants.

The first regulation on orphan drugs was introduced in the United States in 1983 with the enactment of the Orphan Drug Act, after which it became evident that there was a need to formulate a legislative framework in this area. In 1999, the European Union adopted Regulation EC 141/2000 and subsequently Regulation EC 847/2000. These Regulations establish the criteria and procedure for the designation of the orphan drug, the granting of such status by the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMA), the incentives offered, and finally, the approval process for Orphan Drugs.

To obtain the designation of an Orphan Drug in the EU, a medicinal product must meet several criteria:

1) It must be intended for the treatment, prevention, or diagnosis of a life-threatening or chronically debilitating disease;
2) It must be intended for a rare clinical condition, and its prevalence in the EU must not exceed 5 per 10,000 inhabitants;
3) There should be no valid alternative treatment available or, if such alternatives exist, the drug must offer significant benefits to those affected by the condition.

Spinal cord injury is considered rare as it affects 1 case per 2,000 inhabitants.

3. What prospects and challenges arise in the trials of orphan drugs?

Clinical research and trials on rare diseases face several obstacles mainly due to the low prevalence of these conditions, which complicates patient recruitment. This often represents the most frequent problem in clinical studies on rare diseases. To meet recruitment goals, it might be necessary to extend the studies for longer periods or increase the number of centers, although often the specialized expert centers are few and geographically dispersed. For this reason, in the European Union (EU), the United States (USA), and Japan, incentives have been implemented for the industry to promote the development of orphan drugs. These incentives have shown some success, resulting in an increase in marketed drugs.