This past year has been difficult for so many people. Every A-T family I have spoken with has been enormously grateful that, thanks to many of you, research has continued, providing the hope that sustains us. Here’s a quick look at our efforts this year:
- With the start of our antisense oligonucleotide (ASO) gene therapy program, we saw a little girl begin to receive a drug that was custom-designed for her particular A-T mutation. We are working on quickly expanding this program as well as pursuing other DNA-based medicines that will address mutations carried by all A-T children.
- We discovered that the “neurofilament light chain” protein is elevated in the blood of A-T children and that measuring it may enable us to run faster, more precise clinical trials. And, while expanding on this initial discovery, we’re also exploring additional biomarkers.
- We started developing other ways to measure A-T more easily and objectively – using activities that A-T patients can do at home – such as wearing sensors (that look like watches), speaking into microphones to measure changes in speech, and clicking on dots moving on a screen while initiation, acceleration and smoothness of movement are measured using big data algorithms.
- Our trial of a supplement called nicotinamide riboside is nearing completion in The Netherlands, and we should soon be able to share the results with A-T families all over the world who have wondered whether it makes a difference.
- The pharmaceutical company IntraBio has expanded their clinical trial to test N-Acetyl-L-Leucine in A-T patients, and we will be helping with recruitment.
- We now have hundreds of A-T patients and families from all over the world participating in the Global A-T Family Data Platform. Researchers are accessing clinical and genomic data from it, and we will be expanding the types of data available during the coming year. Much more than a typical patient registry, this innovative data platform for A-T is becoming used as a model by other rare disease communities. (A-T families, if you haven’t signed up yet, you can do so here.)
Because our work is primarily funded through the grassroots efforts of families and friends of kids and young adults with A-T, we weren’t sure what was going to happen this year as we saw every event we had planned being cancelled. And then, glimmers of hope turned into powerful fundraising efforts – with socially-distanced golf tournaments, virtual 5Ks, and a phenomenal #GivingTuesday success as generous donations were matched by anonymous donors.
While we aren’t sure what 2021 will bring, we are confident that huge strides will be made toward our goal of finding significant treatments and a cure for A-T! Whether you’re a researcher, donor, A-T family member, marathoner, fundraising volunteer, or a friend of the organization … we are grateful for your belief in our work and for your support.
Wishing you and your families a Happy New Year, and please stay safe.
Jennifer Thornton, Executive Director