A Momentous Milestone for People Living with Hypophosphatasia

We were delighted to share in February that following a second committee meeting, NICE released final draft guidance to recommend the use of Asfotase alfa (Strensiq) for the treatment of all patients with perinatal and infantile forms of paediatric-onset hypophosphatasia (HPP) and additional recommendations for those with juvenile forms who meet the entry requirements set by the Managed Access Agreement (MAA).

So, what is Strensiq?

Strensiq is a drug that is life-saving in the youngest and life-changing in older children, young people, and adults with paediatric-forms of HPP. We share in the emotion, the relief, and the future hope that this guidance brings all of those living with HPP their families, and all those involved in their care.

Helen Morris, Individual Support Manager.

Our Individual Support Manager, Helen Morris, has steered this work from within MSUK with great attention, care, and emotion. We have been privileged to represent the HPP community throughout this process and to work alongside those affected by HPP, their parents and carers, Soft Bones in the UK and US, and metabolic bone consultants and other specialities.

For the HPP community this process has been long and there have been many uncertainties along the way. We have worked with NICE and NHS England to unpick each stage and what it means for those receiving Strensiq and we are absolutely delighted that this new guidance relieves a great deal of anxiety and concern for many.

A key message here is that in the case of rare disorders, no matter how little you feel you can share, your voice really does matter!

We are celebrating this huge success as a result of the time, effort and dedication of those living with HPP and their families and carers. Throughout this process they have completed questionnaires not just as part of the MAA but from MSUK too. These, and the interviews, calls, and emails sharing vital insights and experiences of life with HPP have been what has got this over the line and helped us to ensure decision makers understand the true impact of HPP and the differences Strensiq has made.

"Patient Expert" Melanie Williams

Throughout the latest stages of the consultation we were pleased to be joined by our nominated ‘patient expert’ Melanie Williams, who as a person living with HPP, as well as having a daughter and a granddaughter with HPP, has vast experience.

Melanie Williams, on the right, pictured with her daughter and granddaughter.

Mel’s knowledge, eloquence, and strong passion for advocacy and awareness-raising has had a massive impact on this process and we’d like to thank Mel for her unwavering energy and drive which contributed to getting this treatment over the line.

Mel shared their thoughts on the experience and outcome:

"As your patient representative on the NICE panel it was a great relief to firstly hear the news that perinatal and infantile onset patients would be able to receive Strensiq in the UK. But what a blow it was to hear that NICE was not minded to recommend for Juvenile onset. Then came the call to action from Metabolic Support UK for us to present our evidence to fight for Juvenile onset patients.

Thank you so much for completing the questionnaires and writing your stories. This gave us the ammunition we needed to fight our corner. The process wasn’t simple by any means and many weeks of work writing papers and learning went on behind the scenes to collect the varied evidence needed by NICE to be able to approve the medication.

To hear we have approval for Strensiq for Juvenile onset HPP is monumental. As I live with HPP, have a daughter and granddaughter with the condition I know the toll this disease takes on not only the sufferer but on those caring for us too.

I breathe a huge sigh of relief at this wonderful news and look forward to brighter futures.”

MSUK would like to say thank you again to the HPP Community, Melanie Williams, and our own Helen Morris; for all the effort, care, and resilience they afforded this work.