Written by Terry-Jo Bichell, &  Barbara O'Brien, our editor in charge of the Biomarkers and Outcome Measure Alliance.

These two terms are a buzz in the Angelman Syndrome research space at the moment and have had a particular focus since the first Biomarkers & Outcome measures strategic planning session sponsored by Agilis Therapeutics in Tampa last year. These two areas have become a matter of urgency for patient organisations, researchers and pharmaceutical companies around the globe, so much so that FAST has partnered with the Angelman Syndrome Foundation to fund the Angelman Biomarkers & Outcome measures Alliance (or A-BOM).


So what is a biomarker?

"Biomarker" is short for biological marker. It is something that can be measured purely biologically, like measuring protein levels in blood or urine samples, or like measuring brain waves with an electroencephalogram (EEG). These measurements are straightforward, are often reported by machines, and do not require any surveys, interviews or other subjective measures like feelings or moods.

And what about outcome measure?

Unlike biomarkers, outcome measures are more subjective. These require history and narrative, often through interviews or surveys provided by the caregiver and/or parent. Examples of outcome measures would be how many hours a patient sleeps, when they sleep, anxiety, and how often they are hungry. Developmental testing, such as the Bayley test, is also an outcome measure. There are no simple or straightforward tests for these, but they are very important in terms of assessing if a drug or therapy is working. 

Why do we need these now?

Historically, when a new drug or therapy is tested, researchers try to measure if the known symptoms of an illness are changed by the new treatment.  For example, seizures are a known symptom of Angelman Syndrome, a drug or behavioral therapy works if it treats those symptoms. Angelman Syndrome, however, is not the same in every individual. A treatment for AS that addresses mainly epilepsy does little for the patient that has no seizures. Furthermore, the severity of a symptom ranges widely among the Angelman population. For example, some patients can walk relatively well on their own while others cannot walk independently at all. By using a combination of biomarkers and outcome measures to assess the progress of a patient undergoing therapy, we can find out if treatments are effective much faster than if we used a simple checklist of symptoms that may not apply to all individuals with Angelman Syndrome.

Sometimes new drugs fail because they just don't work. Sometimes, new drugs can fail clinical trials because they work, but they don't help the patient have a better quality of life. And sadly, sometimes new treatments fail, even when they work, simply because the clinical trial measured the wrong thing. For example, if a new drug is expected to help seizures, and it doesn't, but it does reduce aggression and anxiety, it might never make it to market unless the researchers knew to measure behavior outcome measures as well as EEGs and seizures.  This is why we must carefully find out which biomarkers and outcome measures work in Angelman syndrome and which ones are important for quality of life. The goal is to help get good new treatments to people with Angelman syndrome. 


The first A-BOM meeting, sponsored
by AGILIS Pharmaceuticals in Tampa

Visit the A-BOM Alliance 
website here 

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