Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina

new research on biomarkers for Fragile X syndrome

bio·mark·er, noun, a distinctive biological or biologically derived indicator of a process, event, or condition.

Doesn’t help?

Well, it’s perfectly clear to Argentinian researchers Patricia Cogram, PhD, and Paulina Carullo, MD, from the FLENI Institute in Buenos Aires, Argentina. They understand there is an urgent need for validated biomarkers after recent Fragile X syndrome clinical trials have failed on their primary endpoints.

“Biomarkers are key to learning more about their correlation with clinical and behavioral characteristics across diverse developmental stages in Fragile X syndrome,” said Dr. Cogram, the principal investigator of FRAXA’s Drug Validation Initiative (FRAXA-DVI) to test preclinicaly potential compounds for FXS. “We are searching for biomarkers that could potentially be used for clinical trials for treatment in children, teenagers, and adults with Fragile X.”

Cue parents. Yes, you.

Targets: your Child’s Cognitive, Behavioral and Emotional Impairments

Dr. Cogram and Dr. Carullo are looking for families of children with Fragile X to participate in their study to identify blood-based and neurophysiologic biomarkers. Their study will be divided into three age groups with full families: the patient mother, father, affected and unaffected siblings. If you fit this criteria, are interested in participating in the study and traveling to Buenos Aires, Argentina, email or

“This is a multidisciplinary project that works hand in hand with families,” said Dr. Carullo, who has worked in clinical research projects in Rett Syndrome and Autism Spectrum Disorders in the Infant Sibling Project at Children’s Hospital in Boston. “If it succeeds, it will be an enormous help to future clinical trials.

Drug Validation Initiative (FRAXA-DVI)

Since 2011, Dr. Cogram has received more than $350,000 from FRAXA for the Drug Validation Initiative.

“FRAXA’s support of our project is of great value to our translational research group and gives the FXS families in Latin America the opportunity to participate in the latest global research,” said Dr. Cogram, a neuroscientist working in neurodevelopmental diseases who has dedicated her entire research career to understanding and curing FXS. “Thanks to FRAXA, I participate in international biomedical research that promotes the understanding of FXS. It is a unique experience!”

Dr. Carullo, a child neurologist working in behavioral neurology with FXS patients and their families, says Fragile X has profoundly changed her life.

“From the moment I met the FXS families and began working with them, my life and research aims changed drastically,” she said. “Fragile X research is intellectually challenging and highly motivating and rewarding, and helps me grow as a person.”


Explore Current Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

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