Due to lack of awareness among people regarding genetic disorders which leads to mutations in one’s DNA, the prevalence of fragile-x syndrome is increasing, across the globe. Smoking, alcohol consumption during pregnancy and hereditary disorders are few of the primary reasons to for the increase in prevalence of fragile-x syndrome. The therapeutic pipeline of fragile-x syndrome is expected to grow more rapidly in the future on account of active involvement of pharmaceuticals & biotechnology companies carrying out research programs to develop effective therapeutic agents or drugs for eradicating fragile-x syndrome. According to a study conducted by Centers for Disease Control and Prevention (CDC) in 2012, around one female in every 151 females & one male in every 468 males in the U.S., was affected by fragile-x syndrome. Moreover, according to the study, occurrence of fragile-x syndrome is higher in females as compared to males.
Fragile-x syndrome is a genetic disorder that affects the development and learning capabilities of an individual. It is also called as Marker-x syndrome and Martin-Bell syndrome. Fragile-x syndrome causes trinucleotide repeat in Fragile-x mental retardation 1(FMR-1) gene present on X chromosome. This gene is responsible for making a protein called Fragile-x mental retardation protein (FMRP), which is required for normal neural development. In case of an individual suffering from fragile-x syndrome, production of FMRP is constrained due to the repetition of CGG (trinucleotide) in FMR1 gene. The symptoms associated with fragile-x syndrome are mental retardation, learning disability, impulsiveness, stuttering, development delays, seizures, depression, hyperactivity, etc.
The therapeutic pipeline of fragile-x syndrome includes some of the important therapeutic agents or drugs are available under the pipeline of different pharmaceutical companies. OV-101 is a drug being currently developing by Ovid therapeutics Inc., and is under Phase I stage of clinical trials. The drug, OV-101, is orally administered, and targets GABA-A (gamma-aminobutyric acid) receptor delta (GABRD) & agonist to GABA-A receptor delta (GABRD). Bellus Health Inc. in collaboration with AMO Pharmaceutical, is developing a drug by the name, AMO-01, for the treatment of fragile-x syndrome. It is currently under Phase II stage of clinical trials. AMO-01 is a small molecule which targets peripheral benzodiazepine receptor (PBR). Ganaxolone, a drug being currently developed by Marinus pharmaceutical, is under Phase II clinical trials and is orally administered. Ganaxolone is a small molecule which modulates gamma-aminobutyric acid (GABA). NNZ-2566 is a drug being developed by Neuren Pharmaceuticals, which shows the efficacy to treat Rett syndrome and Fragile-x syndrome. NNZ-2566 is under Phase II clinical trials and inhibits the activity of cytokines in the human body.
Some of the companies having a pipeline of Fragile-x syndrome therapeutics include Ovid therapeutics, Marinus pharmaceuticals, Neuren pharmaceuticals, Bellus health Inc., AMO pharmaceuticals, Eli-lly& co., Anavex Life Sciences Corp., Kareus Therapeutics, and Zynerba Pharmaceuticals, Inc.