Dec 13, 2019
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Healx Pharma has recently partnered with Boehringer Ingelheim to advance the treatment market and invest in R&D related to rare neurological disorders.
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Under the deal signed, Healx Artificial Intelligence (AI) drug discovery platform- Healnet will help in identifying the indications that can be treated with the use of therapies and drugs from the Boehringer Ingelheim’s pipeline.
AI-powered biotechnology company, Healx has proven that its AI-driven Healnet has identified around eight drugs that can be repurposed to offer a potential and efficient cure for Rare neurological disorders such as FXS.
Fragile X syndrome (FXS) is a genetic condition. Caused by the mutations in the gene- Fragile X mental retardation 1 (FMR1). The condition is also known as Martin-Bell syndrome.
The gene FMR1 is usually responsible for transcribing a protein, namely, Fragile X mental retardation protein (FMRP), which is required for normal protein development. The rare genetic disease– Fragile X Syndrome occurs in people who fail to make this protein.
Fragile X syndrome symptoms comprise of a range of developmental disorders hampering learning abilities, causing cognitive impairments. The patients also suffer from delayed speech and language development. In addition to speech impairment, FXS patients also face mild to moderate intellectual disability. Interestingly enough, the FXS symptoms are more severe in boys as compared to girls. People afflicted with this rare genetic disorder might suffer from mild to moderate intellectual disability whereas, as per NCBI, about one-third of female FXS patients have intellectual disabilities.
Moreover, Young FXS patients may also have anxiety and hyperactivity behavior such as fidgeting and can be impulsive in nature. About one-third of individuals afflicted with FXS, as per NCBI, may show autistic behaviors such as hand-flapping and uncomfortable in making eye contact.
Attention deficit disorder (ADD) is another common Fragile X Syndrome symptom, which results in reduced attention and concentration on any task. They also have problems with loud noises and bright lights referred to as sensory integration problems. Moreover, Seizures affect around 15 percent of the males and 5 percent of the females with Fragile X syndrome.
Fragile X syndrome has been found in all major ethnic groups and races.
As per the Orphanet registry, worldwide Fragile X syndrome prevalence is estimated at approximately 1/4000-1/5000. disorder than females.
Fragile X syndrome is the most commonly inherited cause of mental retardation in males. It afflicts 1 in 4000 boys, however, in girls the Fragile X Syndrome incidence is 1 in 8000. So, the FXS is double in males as compared to females. The higher male preponderance of FXS is due to the genetic makeup of a human being. Since, women have two copies of the X chromosome, about four times as many females are altered Fragile X Carriers when compared with males (1:250 females and 1:1000 males). In the case of altered Fragile X carrier males, the premutation is passed on to the daughters and not sons, however, if the female is the carrier of altered Fragile X gene, the premutation can be passed to both.
According to the estimates by the Centers for Disease Control and Prevention, FXS incidence is around 1.4 per 10,000 males and 0.9 per 10,000 females.
Moreover, talking about the FXS epidemiological trends geography-wise, about 1 in 4000 males and 1 in 6000-8000 females are affected by FXS in the US.
FXS diagnosis is based on clinical testing since physical symptoms are quite similar to other indications and are often mild or absent. Testing a person’s DNA from a blood test to evaluate the functioning of the FMR1 gene is often carried out in Autistic patients or with intellectual deficiency.
The trends reveal that the average age of the FXS diagnosis for boys ranges between 35 to 37 months whereas the average age for girls is 42 months.
At present, Fragile X syndrome has no cure.
Fragile X syndrome treatment market is still at the infancy stage due to the lack of any approved standard Fragile X syndrome treatment.
At present, the FXS treatment market comprises a number of treatment options that are symptomatic in nature. The available FXS therapies help in improving the quality of the lives of the Fragile X syndrome patients. Lifestyle modifications such as special education, speech therapies, occupational, sensory integration training, and behavior modification programs also help in improving overall conditions of the FXS patients. Additionally, recommendation of Genetic counseling to affected FXS individuals and their families is also common.
Prescription of medications such as Sympatholytic including Clonidine, Propranolol, and Antidepressants like Tricyclic Antidepressants (TCAs) is also given to FXS patients. In addition to these, administration of monoamine oxidase inhibitors (MAOI’s), Selective Serotonin Reuptake Inhibitors (SSRIs), such as Sertraline, Escitalopram, Duloxetine, and Paroxetine) and Mood Stabilizers, such as Lithium, Carbamazepine, Valproic acid, Clonazepam, Risperidone is also prevalent in Fragile X syndrome patients.
Due to a dearth of substantial effective Fragile X syndrome, there and increasing Fragile X syndrome prevalence, as estimates DelveInsight’s analysts, the Fragile X syndrome Market is expected to grow considerably. There are many researchers who are actively working towards developing treatments for the disease. FRAXA, an organization actively searching for an FXS cure, raises funds and supports extensive efforts for FXS. Some researchers also focus on new targeted treatments for FXS that can target the mGluR5 pathway abnormalities in FXS.
The dynamics of the Fragile X syndrome market are anticipated to change in the coming years owing to the rising awareness of the disease, incremental healthcare spending across the world and expected launch of emerging therapies during the forecast period of 2018-2027.
Pharma players and biotech companies across the globe are working towards the development of new Fragile X syndrome treatment therapies. Some of the Fragile X syndrome Companies in the Fragile X syndrome therapeutic market at the global level are Zynerba Pharmaceuticals, Seaside Therapeutics, Ovid Therapeutics, Neuren Pharmaceuticals, Tetra Discovery Partners and Neurotrope Bioscience and many more.
Despite some of the companies recently shifted their focus towards this indication, other companies such as Healx and Boehringer Ingelheim are also working to create a significant influence on the market size during the forecast period.
Fragile X syndrome pipeline as several therapies such as ZYN002 (Zynerba Pharmaceuticals), STX209 (Seaside Therapeutics), OV101 (Ovid Therapeutics), Trofinetide (Neuren Pharmaceuticals), BPN14770 (Tetra Discovery Partners), and Bryostatin (Neurotrope Bioscience), which will positively impact the Fragile X syndrome market during the study period (2017-2028).
Moreover, Fragile X syndrome research for a better understanding of anxiety and the precursors to behavioral will further accelerate the manufacturing of the Fragile X syndrome therapy market.
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