Muri Bei Bern

Researchers are evaluating the safety, tolerability, and effectiveness of votoplam in slowing disease progression in patients with early symptomatic Huntingtons disease. This Phase 3 study compares votoplam to a placebo control group to better understand its impact on this genetic condition. The study is sponsored by Novartis Pharmaceuticals and uses the compound HTT227 formerly PTC518. Participants will be randomly assigned in a 32 ratio to receive either votoplam or placebo, both taken orally. The trial has three periods a screening period of up to 42 days to determine eligibility a double-blind treatment period lasting up to 36 months, with variable individual treatment durations and a safety follow-up period consisting of one visit or phone call 30 days after the end of the study for participants not continuing in an open-label extension. During the study, participants will undergo regular assessments including measurements of neurological function through the cUHDRS score and other clinical scales at baseline and month 36. Blood tests will monitor levels of mutant huntingtin protein and serum neurofilament light. Safety will be evaluated by tracking adverse events throughout treatment. This comprehensive follow-up aims to gather detailed information on disease progression and treatment effects over up to three years.

Researchers are conducting Enroll-HD, a large, ongoing observational study that combines and expands previous Huntingtons disease HD registries across multiple continents, including Europe, North America, Australasia, and Latin America. This study collects longitudinal clinical data and biological samples from individuals with manifest HD, those carrying or at risk of carrying the HD gene mutation, and control participants without the mutation. The goal is to build a rich database to support research into disease progression, prognosis, and developing clinical trial endpoints. Participants include those with diagnosed HD, pre-manifest carriers, relatives with unknown or negative genotype status, family controls, and community controls. The study involves annual assessments with no planned end date, allowing for long-term data collection. Researchers collect demographic, clinical, family history, genetic, and blood sample information systematically from over 150 sites worldwide. During the study, participants undergo motor, functional, behavioral, and cognitive assessments using standardized tools such as the Unified Huntingtons Disease Rating Scale and Problem Behaviors Assessment-Short. Data are updated at each visit, including clinical signs and genotyping results. The study database is periodically made available to researchers globally, and participants may contribute for many years, helping to advance understanding and support future interventional studies in HD.