FDA approves first treatment for Hutchinson-Gilford Progeria Syndrome
NEW FINDINGS — THERAPEUTICS
Hutchinson-Gilford progeria syndrome (progeria) is an extremely rare genetic disease characterized by the appearance of advanced aging in children. Although they are born seemingly healthy, during their first two years of life children with the disease begin to show signs and symptoms such as slow growth and hair loss. Children with progeria often appear old and frail before they reach school age. Most patients die before the age of 15 from heart failure, heart attack, or stroke. Progeria is caused by a single gene mutation in the LMNA gene that codes for lamin A protein. Lamin A is part of the scaffolding that holds the nucleus of a cell together. When the gene is mutated, an abnor- mal version of lamin A protein, called progerin, is produced. Scientists believe progerin makes the nucleus unstable, leading to the process of premature aging. Although the cause of disease is known, treat- ment options are limited and include supportive care and therapies to treat complications arising from the disease. In late 2020, the U.S. Food and Drug Administration approved a drug called Zokinvy to reduce the risk of death due to progeria. The drug works by preventing the buildup of the defective progerin protein. In patient trials, the drug increased the average lifespan by about two and a half years. REFERENCES: www.npr.org/2020/11/22/937708600/fda-approves-first-drug-for-ra- re-rapid-aging-genetic-disorder “FDA Approves First Treatment for Hutchinson-Gilford Progeria Syndrome and Some Progeroid Laminopathies” FDA, 20 November 2020, www.fda.gov/news-events/ press-announcements/fda-approves-first-treatment-hutchinson-gilford-progeria-syn- drome-and-some-progeroid-laminopathies. Accessed 20 August 2021. Press Release.
Human gene editing guidelines developed
Although human genome editing has the potential to improve human health and medicine, it also raises important ethical and social issues. In 2018, after a Chinese scientist announced that he had genetically modified embryos that became twin babies, the World Health Organization (WHO) established an expert advisory committee tasked with developing internation- al standards for human genome editing. In July 2021, WHO released two reports outlining global recommendations for regulating human genome editing, with an emphasis on ensuring ethical and equitable use of the technology. The reports present a framework to help people who regulate human genome editing, providing suggestions on how such regulations could be implemented and enforced. Within the reports, the committee also outlines nine key rec- ommendations related to the ethics of human genome editing, including the establishment of an international registry of gene-editing experiments and ways for whistleblowers to re- port illegal and/or unethical research. It also provides several hypothetical scenarios that the proposed strategies may help prevent, such as conducting gene editing trials in low-income countries to develop therapies that would ultimately be too costly for all but the wealthiest ones to buy. Throughout the reports, the WHO reiterates its existing oppo- sition to using genome editing on germline cells (sperm and egg cells) until researchers have a better understanding of the implications it could hold. Overall, the recommendations in the report form an important first step in the uniform regulation of human genome editing. REFERENCES: www.who.int/news/item/12-07-2021-who-issues-new-rec- ommendations-on-human-genome-editing-for-the-advancement-of-public- health WHO Expert Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing. Human Genome Editing: recommendations. Geneva: World Health Organization; 2021. ISBN: 978-92-4-003038-1.
SCID gene therapy effective out past 2 years
Babies born with severe combined immunodeficiency (SCID), also known as bubble baby disease, usually die from infection within one to two years of life if they do not receive treatment. The most common form of the disease is caused by mutations in the ADA gene that im- pairs the activity of an enzyme needed for healthy immune function. Patients with SCID can be treated with enzyme replacement therapy, but this treatment does not fully restore immune function and must be taken once or twice weekly for their whole life. Bone marrow transplants have also been used to treat the disease, but donors are not always available and the procedure carries risks. Gene therapies have emerged as a promising treatment for patients with SCID. One type of gene therapy involves inserting a normal copy of the ADA gene into the patient’s own blood-forming stem cells. A harmless virus is used to deliver the ADA gene into the patient’s extracted stem cells in the laboratory. The genetically corrected stem cells are then infused back into the patient. During a clinical trial, researchers found that 48 of 50 children who received the gene therapy retained their replenished immune system function two to three years later and did not require additional treatments for their condition. REFERENCE: Kohn D.B. et al., Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency, New England Journal of Medicine (2021) 384:2002- 2013. DOI: 10.1056/NEJMoa2027675.
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