Nearly $500K Awarded to Support Search for Rett Syndrome Biomarkers

The National Institute for Neurological Disorders and Stroke, a division of the National Institutes of Health (NIH), awarded nearly $500,000 for a study seeking biomarkers of Rett syndrome.

The $498,572 grant was awarded to DiamiR to conduct a study called “Circulating Organ-enriched microRNAs as biomarkers of Rett Syndrome.”

To be developed over one-a-half years, the project builds on a previous study that identified certain microRNAs — or miRNAs — abundant in the brain and detectable in the blood as potential biomarkers of disease course in Rett. This could help address the lack of peripheral, minimally invasive biomarkers of Rett, according to DiamiR.

“We are very grateful to the NIH for their continued support for the development of our platform technology based on the targeted selection and quantitative analysis of organ-enriched, including brain-enriched, microRNAs circulating in plasma [blood],” Samuil Umansky, MD, PhD, chief scientific officer of DiamiR, said in a press release.

miRNAs are small fragments of RNA. Rather than providing instructions for making proteins, as in the case of messenger RNA, they act to regulate the expression (activity) of other genes. Loss of MECP2, the faulty protein in people with Rett, may change the concentrations of miRNAs in the blood by switching “on” or “off” target genes.

The prior study, conducted in mice and in blood samples of girls and women with Rett, found that altered levels of certain miRNAs could help track disease progression and the presence of symptoms such as seizures and walking problems. Other miRNAs could help diagnose Rett.

Finding and validating markers of disease progression could improve therapeutic monitoring, help screen potential treatments, and define specific patient populations for clinical trials.

“Our goal is to provide drug developers and clinicians with much needed accurate and minimally-invasive diagnostic solutions early in the disease progression continuum to enable more effective therapeutic intervention and better planning of care,” said Umansky.

Kira Sheinerman, PhD, CEO of DiamiR, added that she expects the CLIA-compliant tests the company is developing to be used initially “to better define target patient groups in clinical trials, and later in broader clinical practice.” (CLIA is an abbreviation for Clinical Laboratory Improvement Amendments.)

The National Institute on Aging of the NIH also awarded DiamiR a grant of nearly $3.36 million over two-and-a-half years to support late-stage development of CogniMIR for early detection and prediction of progression of mild cognitive impairment and Alzheimer’s disease.