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Researchers are evaluating the safety, tolerability, pharmacodynamics, and pharmacokinetics of ALN-HTT02 in adult patients with Huntingtons Disease. This phase 1 study focuses on patients with stage 2 or early stage 3 Huntingtons Disease. Participants are randomly assigned to receive either ALN-HTT02 or a placebo in a double-blind manner to assess the effects of this intrathecally administered drug. Participants receive a single dose of ALN-HTT02 or placebo during the double-blind part of the study. Those who received ALN-HTT02 initially will not get another dose in the open-label part, while placebo recipients may receive a single ALN-HTT02 dose then. Additionally, participants can opt for repeat doses of ALN-HTT02 in an open-label extension lasting up to 36 months. Throughout the study, participants undergo monitoring for adverse events for up to 12 months during the double-blind and open-label parts, and up to 36 months in the extension. Researchers measure levels of mutant huntingtin protein in cerebrospinal fluid, as well as concentrations of ALN-HTT02 in plasma, cerebrospinal fluid, and urine. Safety, pharmacologic effects, and long-term tolerability are carefully assessed during this extended participation period.

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.

Researchers are conducting a long-term observational study called HDClarity to collect cerebrospinal fluid CSF and plasma samples from at least 2,500 participants at various stages of Huntingtons disease HD. The main goal is to gather high-quality CSF samples to study biomarkers and disease pathways that may help develop new treatments for HD. Additionally, plasma samples will be collected to support biomarker research relevant to HD. Participants attend two annual visits a Screening Visit and a Sampling Visit. The Screening Visit involves collecting medical history and clinical data. Those eligible and willing continue to the Sampling Visit, where blood is drawn via venipuncture and CSF is collected through lumbar puncture after fasting for at least six hours or overnight. Some participants may also attend an optional Repeat Sampling Visit 4-8 weeks after the first Sampling Visit during their first year of enrollment. Annual visits continue regularly with a two-month window. Throughout the study, participants health and clinical status are monitored, with the option to skip visits without leaving the study. If a participant misses Sampling Visits for three consecutive years, they may be discontinued but can re-enroll later with consent. The study collects detailed clinical and phenotypic data alongside biological samples to evaluate biomarkers and pathways related to HD, supporting therapeutic development. The study is open-ended and ongoing.

Researchers are evaluating pridopidine to see if it can slow the clinical decline of Huntingtons Disease HD in adults aged 23 to 65 who have adult-onset HD. This Phase 3 study compares pridopidine to a placebo to understand its effects on HD progression, including daily functioning, cognition, motor skills, and quality of life. The study also assesses the safety of pridopidine. Participants will take either pridopidine or placebo capsules twice daily for one year, starting with a 2-week period of once-daily dosing and then switching to twice daily. They will have six clinic visits and five safety phone calls during this placebo-controlled year. Afterward, all participants can join a 2-year open-label extension where everyone receives pridopidine, including those who initially took placebo. This extension includes a 2-week retitration period and 102 weeks of twice-daily dosing, with six clinic visits and six phone calls planned. During the trial, participants will be monitored through regular clinic visits and telephone safety calls. Researchers will measure changes in the Composite Unified Huntingtons Disease Rating Scale over one year as the primary outcome. Secondary outcomes include changes in functional capacity, motor function, and cognitive performance. Safety and tolerability will be continuously evaluated throughout both study periods, with a total participation time of three years for those completing both phases.