Trofinetide holds promise for fragile X syndrome

Trofinetide shows signals of activity against core fragile X syndromes, leading to improvements in communication, repetitive movements, and social avoidance, among others according to a new study.

Researchers conducted a placebo-controlled, double-blind, parallel group study of oral trofinetide in 72 adolescent and adult males with fragile X syndrome. Participants were assigned to receive either a 35-mg/kg or 70-mg/kg twice-daily dose of trofinetide, or placebo. The trial ran for 28 days, during which the active treatment was given only in the last 14 days.

Trofinetide showed better efficacy over placebo (p<0.2), as evaluated by the Fragile X Syndrome Rating Scale (FXSRS) score, which indicated an overall improvement in the major symptoms of fragile X syndrome.

Likewise, trofinetide showed superiority over placebo in terms of the Fragile X Syndrome Domain-Specific Concerns (FXSDSC) visual analogue scale (VAS), suggesting that the treatment had an effect on the most concerning areas of fragile X syndrome. Both FXSRS and FXSDSC were clinician-accomplished tools.

Caregivers also noted improvements in fragile X syndrome symptoms, as reflected by the Aberrant Behaviour Checklist-Community Version (ABC-C). This also indicated that trofinetide-treated participants saw improvements in common behavioural issues associated with fragile X syndrome.

Both trofinetide doses were relatively safe and well-tolerated. Adverse events during the trial period included upper respiratory tract infections and diarrhoeas, both of which were observed across all treatment arms. No evidence of withdrawal was reported after drug discontinuation, and there were no cases of deaths and serious adverse events.