Clinical trials: a journey towards hope in rare diseases

Clinical trials have been a fundamental pillar in the advancement of medicine and pharmaceutical research. Their evolution has been a testament to the human commitment to understand, improve and treat disease.

These studies, involving the evaluation of treatments in humans, have been the cornerstone for determining the safety and efficacy of new therapies, and continue to be the main tool for bringing therapeutic innovations from the laboratory to clinical practice.

Pharmaceutical research has come on leaps and bounds in recent decades, especially in the development of therapies for rare diseases. Among the most promising innovations are therapeutic oligonucleotides, a class of molecules designed to modulate gene expression and treat diseases at their molecular origin, offering hope to patients who previously lacked effective treatment options. As part of the 7th installment of the #DiscoveringOligonucleotides series from the OLGOFASTX consortium, we bring you this post dedicated to oligonucleotide clinical trials.

The four phases for the validation of medical treatments

Clinical trials of any promising drug are structured in four distinct phases, each with its own set of objectives and methodologies.

  • Phase I: Safety evaluation in a small group of healthy volunteers or patients.
  • Phase II: Evaluation of efficacy and side effects in a larger group of patients with the target disease.
  • Phase III: Confirmation of efficacy in an even larger group, comparison with standard or placebo treatments, and monitoring of side effects.
  • Phase IV: Continued evaluation after regulatory approval to gather information on long-term safety and efficacy in a broader setting. It is also known as pharmacovigilance.

In the context of clinical trials, therapeutic oligonucleotides are undergoing rigorous evaluation to determine their safety and efficacy in the treatment of rare diseases. These clinical trials are crucial to ensure that treatments are safe and effective before they become available for widespread use.

Future perspectives: expanding outreach and effectiveness

The future of clinical trials in the field of therapeutic oligonucleotides is promising. As more evidence accumulates on their safety and efficacy, we are likely to see an increase in the number of clinical trials investigating their use in a variety of rare diseases. In addition, advances in delivery technologies could improve the efficacy and accessibility of these treatments, further expanding their reach and potential impact on healthcare.

In conclusion, therapeutic oligonucleotides represent an exciting frontier in pharmaceutical research, especially for the treatment of rare diseases. With an increasing focus on precision and personalisation, these treatments offer new hope for patients and families facing untreated or difficult-to-diagnose medical conditions.

The OLIGOFASTX project is working to create an industrial fabric in Spain dedicated to the development of oligonucleotide-based therapies for rare diseases, opening the door to more accessible and effective medical care for those who need it most.

At the time of publication of this article, our partner Arthex Biotech has received FDA approval to initiate the clinical trial of its molecule ATX-01 for Myotonic Dystrophy type 1.

As we continue to advance clinical research, it is crucial to maintain a firm commitment to the safety, efficacy and accessibility of these innovative therapies.



How clinical trials work | NHLBI, NIH

What is a clinical trial?

20% of clinical trials in Spain are already focused on rare diseases – FarmaIndustria

US clinical trials “AELMHU

Source of 2nd image: RNA Leaders Explore New Frontiers in mRNA-Based Medications