Genetic diseases

Chiesi’s Lamzede (velmanase alfa) will now be funded on the NHS in England and Wales as an option for treating the non-neurological signs and symptoms of mild to moderate alpha-mannosidosis following a recommendation by the National Institute for Health and Care Excellence (NICE). The treatment must be started in people under 18 years of age, […]

Takeda’s Adzynma has become the first recombinant protein product approved in the US for prophylactic or on-demand enzyme replacement therapy (ERT) for congenital thrombotic thrombocytopenic purpura (cTTP). A very rare, inherited blood clotting disorder, cTTP is caused by a disease-causing mutation in the ADAMTS13 gene, which is responsible for making an enzyme, also named ADAMTS13, […]

This is the latest episode of the free DDW narrated podcast, “Challenges and tactics for transformative drug development”. It covers two articles written for Volume 23, Issue 2 – Spring 2022 of DDW. They are called “Balancing speed and quality in CLD for faster drug development”, and “Sitting down with BridgeBio Pharma”. In the first article, Soojin Han, Chief Technical Lead […]

Israeli researchers have developed a drug that is effective in treating a rare genetic muscle disease. The research team from Ben-Gurion University of the Negev and Soroka Medical Center discovered the severe hereditary muscle disease that develops around the age of 40 years, progressing to complete immobility of the limbs and the chest muscles. The […]

The European Medicines Agency (EMA) has granted PRIME (Priority Medicines) status to the gene therapy, GNT-0003, currently in clinical trials for Crigler-Najjar syndrome, a rare liver disease.   This status, granted only to drug candidates with major therapeutic potential, follows the successful completion of the first phases of the clinical trials.  The manufacturer, Genethon, is a […]

Metrion Biosciences, a specialist ion channel contract research and drug discovery company, and The KCNC1 Foundation, a not-for-profit organisation focused on the development of a treatment for an ultra-rare genetic disorder, have entered a collaboration to progress a hit identification research project for small molecule modulators of the potassium ion channel Kv3.1, targeting KCNC1-related disorders […]

Scientists have unlocked key insights into virus evolution, revealing new information that could help develop treatments for a wide variety of genetic diseases.  The research focuses on a group of small, ubiquitous viruses called ‘parvoviruses’ (from the Latin word ‘parvus’ meaning ‘small’, ‘puny’ or ‘unimportant’). It was led by scientists at the MRC-University of Glasgow […]

Listen to this article on the DDW Podcast: Michael Henderson, MD, Chief Business Officer of BridgeBio Pharma, tells Lu Rahman about the company’s pursuit of transformative medicines to treat genetic diseases. BridgeBio’s mission is to discover, create, test and deliver transformative medicines to treat patients who suffer from genetic diseases and cancers with clear genetic drivers […]