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Interesting preliminary results in Fragile X Medication Trial

Comments by Dr Mark Hirst & Professor Jeremy Turk, summarised by Becky Hardiman

Recent results have been released about a trial of a new drug trofinetide, by Neuren (an Australian-based pharmaceutical company), which was carried out in the USA. The trail was a Phase 2 trial, which aims to test the safety and efficacy of medications (i.e. evidence that it does not actually do something harmful) and to decide whether it is worth looking into a medication further with a particular group. This is an important stage of the drug testing process, and must be passed before medications can go to a full Phase 3 clinical trial, to check whether the drug works.

The drug is targeting a pathway on the 'hit-list' for possible biological treatment routes for fragile X. It is derived from a naturally occurring growth hormone called IGF1 and it is predicted to act by protecting neurons (brain cells) from damage, so rather like giving cells a 'boost' to help them improve their functions. It's also being looked at as a therapeutic pathway in many other brain-related disorders, including Huntington’s.

The trial was a small, preliminary trial involving 72 males with Fragile X (full mutation, full methylation: those with mosaic Fragile X were not included) between the ages of 12-45 years, over a relatively short period of time. The participants were divided into 3 groups and given either a placebo (i.e. no medication), a low dose or a high dose (therefore there were around 25 people in each group). A strength of the study is that the participants were randomly assigned to one of the groups and neither the participants and their families or the researchers knew until the end who was in each group, which reduces bias.

The main finding of the trial is that the medication appears to be safe to use with males with fragile X. Neuren also released some preliminary data which provided indications of possible positive effects of taking the medication. Improvements were seen on the measures presented in the press release. Though, it is not possible to draw any firm conclusions about these effects given the small numbers and lack of statistical analyses to determine if any changes were meaningful (significant).

The take-home message about these interesting findings is that they are encouraging, but it is early days and more in-depth research now needs to be done in a large trial to confirm whether the medication does have an effect and, therefore, whether it may form part of a holistic approach (including other inputs such as educational support) to helping at least some people with Fragile X, in the future.

We look forward to hearing how this research develops and will keep you informed!

Click here for the full trial details.

Click here for the full Neuren press release.

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