New guidance from the National Institute for Health and Care Excellence in agreement with NHS England, on accessing a potentially life-transforming drug for Hypophosphatasia.
Hypophosphatasia (HPP) is an extremely rare inherited bone condition that can appear any time from before birth to adulthood.
In babies it is often fatal, and in older children and adults it can be debilitating, leading to bone deformities. The disease is more common in older children and adults, affecting 1 in 6,370.
More patients with HPP will access a potentially life-transforming drug due to a first of a kind agreement between NHS England and the manufacturer. The drug asfotase alfa was previously only recommended for use in babies by National Institute for Health and Care Excellence (NICE) in draft guidance, as evidence showed it could be life-saving. An agreement between NHS England and pharmaceutical company Alexion, alongside new draft NICE guidance, will broaden access to infants, children and adults with paediatric-onset HPP, who experience the most disabling symptoms and are expected to benefit most from therapy.
Signs and symptoms
Symptoms vary widely and can appear anytime from before birth to adulthood. They include rickets, softening and weakening of the bones, bone deformity and higher rates of fractures. HPP can also lead to chronic debilitating pain, muscle weakness, generalised seizures and renal and respiratory complications. The most serious cases affect babies. Between 50 to 100% of babies diagnosed in the first six months of life die in their first year.
Causes and risk factors
HPP is a genetic metabolic condition that causes a deficiency of alkaline phosphatase and comes in a number of different forms including odonto-hypophosphatasi, which only affects the teeth. The genetic mutation disrupts the process in which calcium and phosphorous are deposited in developing bones and teeth.
How you can help your patient
While many nurses will never see a patient with HPP, be aware that patients with low levels of alkaline phosphatase need further investigation. Care for patients with HPP will be focused on specialist centres. Patients are not always diagnosed swiftly as there is such a range in the type and severity of symptoms, and many healthcare staff have little knowledge of the condition.
Elaine Walker-Beals is lead nurse for paediatric bone disease at Sheffield Children’s NHS Foundation Trust
'The development of the drug asfotase alfa has revolutionised the outcomes of babies who have accessed it through trials. We have babies who would have died who are doing well five years later, after being given this treatment.
'Before we did not generally care for babies at the specialist centre as they died in days or weeks. While it is early days, we think it will have an enormous impact on the children and adolescents who will now be able to access the medication. These children have been tired, in pain, constantly uncomfortable, have struggled to get around, and are unable to keep up with their peers. It can also be difficult for families.
'This drug is likely to change that entirely. It has saved lives for the most serious cases and we will move on and improve lives now that access has been widened.'