Following the presentation, a live question-and-answer session took place during which the researchers addressed the main queries raised by attendees. These were some of the most relevant topics.
The first recommendation is to speak to your regular doctor or GP, particularly if you are at an early stage without any functional impairment. You can also search for your nearest centre of excellence via the public Enroll-HD network or check for updates on centres and their contact details directly on the ClinicalTrials.gov platform. Finally, another key option is to contact patient organisations, such as the European Huntington’s Association (EHA), which actively monitor these studies and provide search tools and information to guide families towards authorised centres, like our website hdtrialfinder.net ; it is worth noting that on this occasion the study will be expanded to include countries not usually involved in this type of research, opening up new opportunities for participation in more regions, like Israel, China or Taiwan…
While studying branaplam as a splice modulator for spinal muscular atrophy (SMA) in babies, Novartis discovered it also targeted Huntington’s mRNA, prompting a clinical trial for Huntington’s disease. Although the drug successfully lowered Huntington protein levels, the trial was stopped early due to signs of peripheral neuropathy. However, researchers caught this side effect very early using a biomarker called NFL (neurofilament light chain), which has now become a standard safety measure across the industry for all splice modulators.
Compassionate use is not available at present. This program only applies to medicines that have already been approved and are marketed in at least one country worldwide. Given that the treatment in question is at a very early stage of research (Phase III trial) and its benefit-risk profile has not yet been fully established, it is not legally possible to apply for it on humanitarian grounds.
