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Bright Futures

Articles and Updates from Phoenix Children's

June 16, 2021, Richard E. Frye, MD, PhD
Phoenix Children’s Improving Treatments for Genetic Disease, Fragile X
Phoenix Children’s Improving Treatments for Genetic Disease, Fragile X

Fragile X is the leading cause of inherited intellectual disability as well as the most common genetic cause of autism spectrum disorder (ASD) accounting for between 1-5% of cases of ASD. Despite its prevalence as an inherited childhood disease, treatments for Fragile X, as well as standards for caring for individuals with Fragile X, are not well developed.

To improve the treatment and care of children with Fragile X, Phoenix Children’s has developed a Fragile X Clinical and Research Program and joined efforts with the National Fragile X Foundation as part of their national network of clinics throughout the United States called the Fragile X Clinical & Research Consortium. The goal of these clinics is to provide families with the best care by developing standards of care for individuals with Fragile X as well as their family. Doctors and researchers in these clinics share knowledge, research and clinical experiences with each other to improve the knowledge base of how to care for children with Fragile X as well as their family.

What is Fragile X?

Most common genetic disorders involve an error in the genetic code like a spelling error. However, Fragile X is a unique genetic disorder. Fragile X syndrome is a trinucleotide repeat disorder. It occurs when a certain sequence of genetic code starts repeating itself over and over again. This sequence of repeats does not happen all at once but gets longer with more repeats over successive generations. Thus, over generations, a region on the X chromosome becomes more abnormal changing from normal to a gray zone of abnormality until it eventually becomes abnormal enough to cause Fragile X syndrome. However, family members with repeat sizes in the gray zone can sometimes have associated medical disorders, usually in adulthood. Two associated syndromes are Fragile X-associated primary ovarian insufficiency in women and Fragile X–associated tremor/ataxia syndrome in men. This unique type of genetic disorder is called anticipation when the disease gets more severe and affects younger individuals in the family with successive generations. Thus, treatment of Fragile X extends beyond the individuals, sometimes affecting the whole family.

Education can lead to better treatment

In order to learn more about Fragile X, Phoenix Children’s is a site of the Center for Disease Control and Prevention funded Fragile X Online Registry With Accessible Research Database (FORWARD) study. This effort integrates our clinic efforts with discovery of new information about Fragile X. By carefully collecting data about individuals with Fragile X, we can understand the challenges they face throughout life. Additionally, this effort carefully follows various treatments used for behavioral challenges faced by individuals with Fragile X to better understand which treatments may be most helpful. This effort requires patients to sign up for the database. The more individuals who sign up, the quicker we can better understand Fragile X - so we encourage all families to get involved.

Fragile X clinical trials

We are also investigating new treatments through clinical trials. We are a site for a pioneering industry-sponsored study investigating the use of a CBD gel that may improve Fragile X symptoms. Given there are currently no FDA-approved treatments available for Fragile X, this treatment has the potential to have a significant impact on the lives of many individuals with Fragile X.

Through these clinical and research efforts we hope to improve the lives of children with neurodevelopmental disorders like Fragile X and their families.

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