Angelman syndrome: A Rare Genetic Disorder

Posted on Jan 1, 2020 by Delveinsight

Angelman syndrome

Angelman syndrome is a rare genetic disorder, which affects the nervous system. The people who are affected by the disease, show the characteristics like intellectual disability, severe speech impairment, delayed development and issues with movement and balance.

Angelman syndrome causes are due to genetic abnormalities that involve the chromosome 15q11-13 region, which is subjected to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, point mutations or small deletions within the UBE3A gene, which lies within this region. 

Angelman syndrome Epidemiology

As per DelveInsight estimates, the total Angelman syndrome prevalent population in the seven major markets was 58,351 in 2017. The estimates suggest higher Angelman syndrome prevalence in the United States with 21,996 cases in 2017. 

Among the Europe 5 countries, Germany had the highest prevalent population of Angelman syndrome with 6,671 cases whereas Spain had the lowest prevalent population of 3,761 cases in 2017. The United States reported the largest Angelman syndrome market size when compared to EU5 (the United Kingdom, Germany, Italy, France, and Spain), and Japan. 

Angelman syndrome Market

“The therapeutic Angelman syndrome market was USD 330.2 million in 2017 in the seven major markets.”

Angelman syndrome treatment is concentrated solely on the management of symptoms and supporting the health and well-being of the affected child or adult. The management aims at the therapies for physical and neurological problems. The emphasis is laid on the specific cognitive profiles and behavioural features of the condition.

The treatment for the disease include Speech therapy, Behavior modification (to address hyperactivity, aggressive behaviour, sleep disorders, self-injury), Communication therapy (to assess speech development), Occupational therapy (to teach self-care), Physical therapy (to achieve functional mobility), Special education, Social skills training and Anti-epileptic medication- the available treatment targets on managing seizures and the physical and behavioural symptoms of the disease. 

Angelman syndrome Emerging Drugs 

With the ongoing research studies at both industry and university level, the future of Angelman syndrome treatment seems promising. The research for future treatment options is focused on gene therapies, topoisomerase inhibitors, minocycline, cannabidiols and PP2A inhibitor.

There is a slew of companies that are developing drugs like Gaboxadol (Ovid Therapeutics) that has been granted with Fast Track Designation and Orphan Drug Designation by US Food and Drug Administration.

Other than this, the future therapy of Angelman syndrome involves gene therapy candidates like GTX-101 by GeneTx Biotherapeutics; GT-AS/AGIL-AS by PTC Therapeutics. It is expected that it will capture the Angelman syndrome market share. 

Hence, the increasing prevalence of the disease along with the promising emerging pipeline therapy with a new mechanism of actions will fuel the Angelman syndrome market during the forecasted period of 2018-2028.

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