EMA Grants Orphan Drug Designation to Elamipretide for Barth Syndrome

According to a recent news release from PR Newswire, the European Medicines Agency (EMA) has recently awarded elamipretide its Orphan Drug designation for the treatment of Barth syndrome. This treatment, given via subcutaneous injection, is meant to improve the characteristic symptoms of this ultra-rare disease.

Now that elamipretide has received this designation, its developer – Stealth BioTherapeutics – is eligible for a number of benefits. These include access to a centralized marketing authorization procedure, assistance with clinical protocol, and in certain countries, differentiated evaluation procedures for Health Technology Assessments. On top of all of these things, the product also becomes eligible for ten years of market exclusivity within the European Union.

Hopefully, this is just another step towards approval, and ultimately, towards putting the drug in patients’ hands. Barth syndrome is an extremely rare condition with very few treatment options, so the approval of elamipretide would mark a very large improvement.

About Barth Syndrome

Barth syndrome is a metabolic, neuromuscular disorder that is characterized by abnormal skeletal and heart muscles, stunted growth, and trouble fighting infections. It is the result of a mutated TAZ gene, which is passed down through the X chromosome. Because of this, it almost exclusively impacts males. The mutation causes issues with the production of tafazzins, a group of proteins that play a role in the function of mitochondria and the development of bone cells. This results in the characteristic symptoms, which include:

  • Learning disabilities
  • Cardiomyopathy
  • Learning Disabilities
  • Hypotonia
  • Skeletal myopathy
  • Delayed development of motor skills
  • High levels of 3-methylglutaconic acid in the blood and urine
  • Weakness of the facial muscles
  • Neutropenia
    • This makes affected individuals prone to infection

There is no cure for this condition; treatment is symptomatic. Doctors will focus on preventing heart failure, which may require a heart transplant.

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