IntraBio, a UK-based biopharmaceutical company, has received approval from the US Food and Drug Administration to run a clinical trial in patients who have Ataxia-Telangiectasia (A-T). The company will test their investigational new drug, IB1001, an orally-administered version of N-Acetyl-L-Leucine, to evaluate its safety and efficacy in improving symptoms, functioning, and quality of life. N-Acetyl-L-Leucine … Read More
It’s been several months since I last updated you on our progress toward testing an antisense oligonucleotide (ASO) gene therapy in a child with A-T. In this update, I thought I’d go a little deeper on a couple aspects of our development efforts, including some challenges we’ve recently overcome and some opportunities that have emerged … Read More
The A-T Children’s Project has funded the laboratories of E. Alice Lee, PhD and Christopher Walsh, MD, PhD of Boston Children’s Hospital and Harvard University to examine how DNA damage accumulates and how genes are turned on and off differently in brain cells obtained from post-mortem patient brain tissue samples donated by A-T families. Children … Read More
Dear Friends, The start of the new year is less than 24 hours away, and for families impacted by A-T, 2019 promises to be a year unlike any other. As you may know from our recent updates, we’re on track to deliver a gene therapy drug (an antisense oligonucleotide) to an 18-month-old girl with A-T … Read More
Hi Everyone, It’s settled. We’ve selected a little, 18-month girl on the west coast of the U.S. to be the first A-T child in history to receive gene therapy. We had the pleasure of letting her parents know the exciting news last week. How did we pick the first kid? The laboratory of Dr. Tim … Read More
Liver problems, such as non-alcohol fatty liver, fibrotic changes and even non-alcoholic cirrhosis, have been seen as children with A-T become adults. In addition, liver disease has been associated with insulin resistance, which is also seen in A-T patients. To better understand liver disease in A-T by investigating the correlation between insulin resistance, inflammation and … Read More
Gene therapy, one of the most promising approaches now being tested on a range of rare and single-gene diseases, relies on using a modified virus to deliver a functioning copy of a gene into the cells of patients. But the viruses that work best for delivering genes to the brain, called adeno-associated viruses (AAVs), are … Read More
Email from Volunteer Chairman and Founder, Brad Margus: As you know, to develop an urgently needed treatment for A-T, we’ve been eager to use a gene therapy approach called “antisense oligonucleotide” or “ASO” therapy to produce a functional ATM protein in children who have A-T. While (with your help!) we’ve been steadily overcoming the financial … Read More
The A-T Children’s Project has begun funding a highly respected scientist’s lab to make cerebellar Purkinje cells from A-T patients. Ever since Shinya Yamanaka and John Gurdon shared the Nobel Prize in 2012 for converting mature blood and skin cells into stem cells, neuroscientists have been trying to take the next step: converting those stem … Read More
In collaboration with Valerie Natale, PhD of the Forgotten Diseases Research Foundation, the A-T Clinical Center at Johns Hopkins, funded by the A-T Children’s Project, is analyzing growth data for patients with A-T who have been followed over time to develop growth curves for A-T. The collaborators will then examine the effects of disease severity, … Read More