Alnylam Pharmaceuticals said its experimental Huntington’s disease treatment brezosiran substantially reduced levels of a disease-linked protein in an early clinical trial, supporting plans for a larger study in 2027 to test whether it can slow the disorder’s progression. People with rare genetic diseases can spend years seeking a diagnosis, while researchers lack much of the […] Read more ... Rare Daily Staff Roivant and its subsidiary Priovant Therapeutics said their drug Lisraya significantly delayed treatment failure […] Read more The findings show that brezosiran is reaching its biological target, but they do not establish whether the treatment can slow Huntington’s disease or help people retain their ability to move, think or manage daily activities. Alnylam presented the results at the European Huntington’s Disease Network Clinical Research Congress in Krakow, Poland. The treatment, developed with Regeneron Pharmaceuticals, is given by injection into the fluid surrounding the spinal cord. It targets a region of the huntingtin instructions called exon 1 and is designed to lower both full-length huntingtin and a shorter mutant form known as HTT1a. Researchers are investigating the shorter form’s role in disease progression. The ongoing phase 1b trial is a randomized, double-blind, placebo-controlled study. “We plan to evaluate our differentiated huntingtin-lowering approach in a rigorous placebo-controlled study to determine whether it can alter the course of Huntington’s disease,” said Pushkal Garg, Alnylam’s chief research and development officer. ... Rare Daily Staff The U.S. Food and Drug Administration has proposed a framework that could make it […] Read more ... Rare Daily Staff Longeveron said an updated analysis of its experimental cell therapy laromestrocel found fewer major […] Read more

Gene therapy is the use of genetic material inside the patient in the treatment or prevention of a disease. Gene therapy turns what has long only been wishful thinking into a reality: addressing an inherited or acquired disease at its cause by using genetic material as a treatment. This can mean, for instance, the removal or change of a faulty or missing gene, or the introduction of genetic material into certain cells of the patient. Using the body’s own language, written in genes, gene therapy delivers specific instructions for the cells to start producing treatments in the place in the body where they are needed. This can mean the introduction, removal, or change of genetic material in the cells of a patient to treat an inherited or acquired disease. Of the other two components, the transgene holds all the genetic information for the cells to deliver the therapeutic response. Once packed into the vector, it travels to the target cell and delivers the correct instructions. The promoter, a DNA segment before the transgene, acts as a switch controlling protein production in specific tissues. This treatment can manage, halt, or reverse diseases with a single dose, providing lasting benefits. (AskBio), a pioneer in gene therapy holding more than 750 patents relating to the technology field. AskBio specializes in the use of adeno-associated viruses (AAV). Our scientists are currently working on the development of multiple treatments that are intended to help patients suffering from some of the most debilitating diseases across multiple therapeutic areas.

Early research shows a one-time gene therapy has potential for addressing both the liver and lung disease that patients with alpha-1 antitrypsin deficiency (AATD) face. Early research shows a one-time gene therapy has potential for addressing both the liver and lung disease that patients with alpha-1 antitrypsin deficiency (AATD) face. ... A groundbreaking clinical trial has achieved what researchers call a landmark moment in medicine: the first-ever precise correction of a disease-causing genetic mutation in patients with alpha-1 antitrypsin deficiency (AATD), a rare inherited disorder that can lead to early-onset emphysema and liver disease. In addition, the treatment achieved levels of functional protein above the protective therapeutic threshold, a key milestone for potential treatment success. "This landmark result represents the first clinical evidence of precise correction of a disease-causing mutation by rewriting the genetic code," said John Evans, chief executive officer of Beam Therapeutics, in a news release. A deficiency in this protein can lead to chronic obstructive pulmonary disease and may also cause the liver disease cirrhosis. The study demonstrated that a single intravenous infusion could potentially transform treatment for patients with the most severe form of AATD. The research focused on patients with the PiZZ genotype who have two copies of a mutated gene that causes alpha-1 antitrypsin to misfold and accumulate in the liver, leaving the lungs unprotected from damage. About 30% of patients have liver disease, including fibrosis and cirrhosis. About 80% of patients have lung disease, including early-onset emphysema, chronic cough, and shortness of breath. In the trial, patients received varying doses of the experimental therapy, with the highest dose group showing dramatic improvements.