Yesterday, Uniqure reported on the 24-month results of their Phase 1/2 clinical trial with AMT-130, a viral gene therapy trial for HTT lowering for the treatment of HD. See the links to the press release and investor call slides. I wanted to review some aspects of the claims made by Uniqure, and…

From a gene mutation to a lethal disease HD is caused by a single mutation in a region of the HTT gene, located at the beginning of the gene (in exon 1), which contains a repeat sequence comprised of CAG repeats; in the normal range, people have between 17-22 repeats…

Seminario del Dr. Ignacio Muñoz-Sanjuan, fundador de Factor-h, en la reunión anual de la sociedad venezolana de neurología, el 3 de junio 2023. Ignacio habla sobre programas terapéuticos actuales para la enfermedad de Huntington, comentando información actual de todos los programas sintomáticos y aquellos dirigidos a disminuir la expresión de…

News Papers like El Heraldo, with a daily circulation of 200.000 copies and around 1 million daily visits to its website, or Radio Caracol, the main national radio station of Colombia covered, among others, the 2022 Huntington Latin American Congress organized by Factor-H. El Heraldo headline Estigma social, el verdadero…

Jan Vesper, Dusseldorf University Jan Vesper spoke on the status update of the recently completed European randomized-controlled DBS trial of the globus pallidus (GP) for the treatment of HD (HD-DBS study). Prior work done in a pilot study in 2014 showed a significant reduction in chorea scores of the UHDRS.…

David Cooper David Cooper from Uniqure spoke about the current status and future plan for the first gene therapy trial for HD involving an AAV5 expressing a microRNA targeting HTT human exon-1 sequences, termed AMT-130. David described the preclinical work conducted to support the clinical trial data, in work that…

Drs. Lauren Boak and Peter McColgan (Roche) Drs. Lauren Boak and Peter McColgan discussed additional results from the tominersen Generation-HD1 phase III trial. Lauren spoke about the on-treatment and post-treatment effects of tominersen, both during the Phase III study and other studies involving this drug, with the focus of dose…

Peter McColgan & Jonas Dorn Peter McColgan from Roche spoke about the digital monitoring of cognitive and motor symptoms from the longitudinal study Generation HD1 in the tominersen trials. Peter described the digital monitoring platform employed during this therapeutic study (n=798 individuals). The platform was also used in the natural…

Jim Rosinski Jim Rosinski from the CHDI Foundation spoke about the -omics strategy at CHDI Foundation to identify early biomarkers of disease progression, with a focus today on the early analysis of the CSF and plasma samples derived from the HD Clarity study using the Somalogics platform. The goal of…

Beth Stevens Beth Stevens from HHMI and the Broad Institute spoke about her work in protecting synapses in the context of HD and the role of the immune system and microglial cells of the brain in modulating synaptic pruning in the adult brain, which enables the ‘sculpting’ of synaptic circuits.…