Author Archives: Marta Figueiredo PhD

The interaction between FAN1 and MLH1 — two DNA repair proteins known to be genetic modifiers of Huntington’s disease — protects against further expansion of disease-causing CAG repeats, according to a study using human and mouse models of the disease. Specifically, this interaction prevents MLH1’s recruitment to a DNA…

No significant safety concerns were identified in the first eight Huntington’s disease patients treated with uniQure’s potential gene therapy AMT-130 in a U.S. Phase 1/2 clinical trial. Six of these patients received the low dose of the therapy — which is delivered directly into the brain — and two…

Progression in Huntington’s disease may be due more to a gradual loss of the system that maintains the health of brain cells than to accumulated damage caused by the disease itself, a computational analysis of large and complex datasets suggests. This analysis, called Geomic, showed that while brain cells most vulnerable…

Roche has discontinued dosing in the Phase 3 GENERATION HD1 trial of its investigational therapy tominersen in adults with Huntington’s disease. The decision was made after a pre-planned review of trial data by an independent data monitoring committee, which issued a “no go” recommendation based on tominersen’s potential benefit/risk…

Women with Huntington’s disease have worse motor, cognitive, and depressive symptoms than men with the condition, according to data from the global Enroll-HD observational study. Notably, no sex-specific differences were found for age at diagnosis and symptom progression over the four years of follow-up. These findings help to increase…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The British Psychological Society has released evidence-based recommendations for health professionals managing the psychological health of people with Huntington’s disease and other neurodegenerative disorders. Its document noted the lack of research on psychological interventions and the poor access to specialized mental health services for these patient groups, highlighting an urgent…

Higher-than-normal levels of mu-opioid receptor 1 (MOR1) in the striatum — a brain region particularly affected in Huntington’s disease — may contribute to both early psychiatric symptoms and late motor difficulties seen in Huntington’s patients, according to a study in a mouse model of the disease. The data also…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Prilenia Therapeutics, in partnership with the Huntington Study Group (HSG), has launched the Phase 3 PROOF-HD clinical trial to evaluate the company’s lead experimental oral therapy, pridopidine, in people with early stage Huntington’s disease. Pridopidine “is a first-in-class [therapy] candidate, with promising previous clinical results and…