First treatment for rare genetic condition

The first and only drug designed to address Morquio A syndrome is now available in Europe and the UK for children and adults with this rare genetic condition. Vimizim®  (elosulfase alfa) replaces the key enzyme (GALNS), deficient in people with Morquio A syndrome. This condition, affecting approximately 3,000 people in the developed world, causes progressive multi-organ dysfunction, including cardiac and respiratory complications, leading to loss of endurance/stamina, increased disability and early death.

Morquio A syndrome (also known as mucopolysaccharidosis type IVA (MPS IVA)) is commonly diagnosed in early childhood and is life-long with no cure. People with Morquio A syndrome rarely live beyond the second or third decade of life, with respiratory and heart failure being the leading causes of mortality. As healthy children grow up, their endurance, as measured by the 6-minute walk test, improves and they can walk further each year.¹ However, the distance children with Morquio A syndrome can walk in six minutes falls every year as their endurance decreases.² By the time they are teenagers they have 75% less endurance than teenagers unaffected by Morquio A syndrome.^1,2 This lack of endurance leads to increased wheelchair use, loss of independence, high caregiver burden and poor quality of life.

By replacing the missing enzyme activity, Vimizim® significantly improves the endurance of patients with Morquio A syndrome as demonstrated by improved performance on the 6-minute walk test. In clinical trials, compared with placebo, patients treated with a once-weekly infusion of 2 mg/kg of Vimizim® for just 24 weeks significantly increased the distance they could walk in six minutes.³ The significant improvement seen in the walk test translates to an improved ability to perform endurance-based daily tasks, such as walking, bathing independently and getting dressed.

“This is fantastic news for all affected patients as they now have the choice of a disease modifying therapy to add to other measures to improve their quality of life. The impact for patients will be significant as they are now able to slow the progression of this devastating disorder,” said Dr Chris Hendriksz at Salford Royal NHS Foundation Trust, UK.

References

1. Geiger R et al. J Pediatr 2007;150:395-399.
2. Harmatz P et al. Mol Genet Metab 2013;109:54-61.
3. Vimizim SmPC.