Learn about Fragile X syndrome
Fragile X syndrome (FXS) is a rare genetic disorder where affected individuals have neurodevelopmental delay and life-long neurological symptoms like intellectual disability, autistic behaviors, speech and motor disorders, sleep problems, ADHD, and anxiety.
The genetic cause of FXS is the hyper elongation of the CGG trinucleotide sequence of the FMR1 gene located on the X-chromosome. Typically, the FMR1 gene allows neurons to make FMRP, a protein that is essential for normal brain development. In people with FXS, the abnormal length of the CGG repeat causes the FMR1 gene to shut down, resulting in a loss of FMRP production and function.
Today, 1 in every 4,000 males and 1 in every 8,000 females has FXS, making it the leading monogenic cause of autism and responsible for ~50% of all X-linked intellectual disability cases. Yet, there is no cure for FXS, with current interventions only partially improving some symptoms.
Nospharma is a clinical-stage therapeutics company developing innovative treatments for rare neurological disorders. Our goal is to improve the lives of people living with rare neurological disorders. By using a multi-therapeutic approach for a given disorder, with each targeting a unique biological cause of the condition, we are making medicines with enhanced effectiveness.