HOME is Where the Research is: How the RECONNECT Study is Revolutionizing Fragile X Syndrome Clinical Trials

When her infant son Sam turned one, Robin Blackwood sensed something wasn’t right.

“He wasn’t doing the things that children at that age typically start to do; like trying to say words, imitate, and clap,” says Robin. “So we turned to his pediatrician and started to search for answers.”

Discovering a genetic link

That search for answers would ultimately lead to genetic testing, where Robin and her family learned that Sam has a rare genetic condition known as Fragile X syndrome (FXS), caused by a change in the FMR1 gene, which is located on the X chromosome. This change in the FMR1 gene leads to a decrease in a protein in the brain that supports common physical and behavioral functions. And for children like Sam, this can cause intellectual disability, behavioral challenges such as anxiety and irritability, and various physical characteristics which underlie the challenges associated with FXS.

“We had never heard of Fragile X, so Sam’s diagnosis was significant,” says Robin. “We were lucky to learn about genetic testing and were able to get that diagnosis in 2011 before he was two years old. This helped us take early steps, including physical and speech therapy, that were instrumental in helping Sam catch up as an infant.”

A difficult diagnostic journey

Still, like many parents and caregivers of individuals with Fragile X — the most common inherited form of autism and it is one of the most common inherited causes of developmental and intellectual disability — Robin says trying to determine the cause of her child’s symptoms was extremely challenging.

“It took a while to get the Fragile X diagnosis, so it was a frustrating and confusing time figuring out how and why Sam was struggling and what we could do to help him.”

Misdiagnosed and misunderstood

A rare disorder, FXS affects approximately 1 in 4,000 to 1 in 7,000 males and 1 in 8,000 to 1 in 11,000 females in the United States. Additionally, the behavioral symptoms of FXS share commonalities with other childhood disorders such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), often causing a misdiagnosis or co-diagnosis that can lead to years of frustration for parents and caregivers. It’s an aspect of FXS that makes it a misunderstood and challenging disease — something that Carrie Buchanan, M.D., often sees in her practice.

“The diagnostic journey of Fragile X is tricky because it overlaps with other behavioral disorders, such as ADHD, autism and anxiety,” says Dr. Buchanan, a board-certified developmental-behavioral pediatrician at Greenwood Genetic Center in Greenville, South Carolina and trial investigator for the RECONNECT clinical trial. “It can be very difficult to get to a Fragile X diagnosis, especially when a child’s doctor stops at an intellectual disability or autism diagnosis.”

“For parents, it’s important to look further, especially if their child has behavioral challenges, such as autism and ADHD, plus developmental delays or intellectual disability. Genetic testing is an important tool in the diagnostic journey. A blood or saliva test can assess if there is a change in a gene that causes Fragile X,” adds Dr. Buchanan.

The RECONNECT clinical trial

Currently, there are no treatments approved by the Food and Drug Administration (FDA) specifically, and there is no cure. This has left many families feeling isolated and acting with urgency in seeking better support that will help their child.

A clinical trial, known as RECONNECT, is evaluating an investigational, topical treatment that may help improve Fragile X-related behavioral symptoms. The RECONNECT clinical trial is currently enrolling both males and females ages 3-29 years old who have an FXS diagnosis via genetic testing, are experiencing behavioral symptoms of FXS, and are in generally good health. As part of the trial, genetic testing may be available.

Unique trial participation options: Completely At-Home and In-Clinic

Families interested in the RECONNECT trial can participate in person at multiple clinic sites around the U.S. or participate completely from their home — through a combination of at-home and virtual visits with study personnel. The participation criteria and length of the study (18 weeks) is the same for both options.

“Since there isn’t an FDA-approved treatment for Fragile X, a clinical trial is a great opportunity for a patient to get access to investigational medications” says Dr. Buchanan. “Families are really excited and encouraged by the clinical research that is underway and the at-home option addresses a significant need of many families. “By conducting the study in home, disruption to their daily routine may be reduced and families can limit time spent traveling or sitting in a doctor’s office.”

Robin echoes Dr. Buchanan’s sentiments on the positive benefits of clinical trial involvement. “Our family is a big supporter of clinical research, which is the main driver of potential new treatments that may help children with Fragile X have a better, more optimal life.”

To learn more about participating in the RECONNECT clinical trial, visit https://fragilexhelp.com or call 1-833-680-1155.