New to RUDY? Register here: https://rudystudy.org/register

You can join in 3 ways:
As an adult with XLH – I have a rare disease & am an adult – so we can report on what it is like to life with XLH in adults who have never had burosumab, had burosumab in past, are still on burosumab.
As an adult who looks after a child (under 16) with XLH – especially teenagers – I am registering on behalf of a child with a rare disease – so we can report the effect on teenagers who have had or are still on burosumab.
As an adult who looks after an adult with XLH – I am a family member – so we can report the impact of XLH on carers.

Already known to RUDY? Sign in here: https://rudystudy.org/

Details on why Rudy is critical and the data we most need can be found in the Q&A below. Also a webinar walking through areas to focus on at https://www.youtube.com/watch?v=DYKu0h15QIc&t=1s

The XLH UK Family & Carer Survey has been created to fill a gap in carer burden evidence which cannot be captured on RUDY.

This survey is now closed: https://forms.office.com/e/nfLdwrJJq9

NICE want to hear directly from you during this public consultation phase. To ensure that your feedback is constructive and concise please help NICE to understand:

1. Daily Life Impact:
   How does XLH impact you or your family member? Please describe any challenges in daily life such as pain, mobility/stiffness, fatigue and impact on social life and employment opportunities.
2. Fractures:
   If you’ve had fractures related to XLH, could you share how they impacted your daily life? How long did they affect you for? How has your experience of fractures differed when receiving different treatments (including medicines or surgeries)?
3. Caregiving and burosumab:
   What type of care or family support do you need (or do you provide to someone else) because of XLH? Please give examples of emotional, physical and daily life care, including support from friends or family members. Please include how the level of care has changed over time if you are on burosumab. If you are a caregiver/partner for someone with XLH, please give examples of how the level of care you provide has changed over time as they have receive treatment such as burosumab.

We have made a video to help you navigate the NICE data entry process. Please go to YouTube @XLHUK or click here

The NICE portal can be accessed here.

You can write to your local Member of Parliament to let them know how important this consultation is to you, your family, and the XLH community. Feel free to download our letter template.

Don’t know your local MP? Find out here: https://members.parliament.uk/members/commons

This is our only opportunity to make a difference and respond – Please encourge others to complete the 5-step Call to Action.

Share this page on social media and encourage partners, relatives and carers to respond!

About RUDY
RUDY is a study in Rare diseases. Headed up by a research team at the University of Oxford, Rudy aims to transform clinical care for participants through patient driven research.

Overview
Living with XLH can at times be complicated, especially as we age. Because of the very nature of living with a rare disease, it makes both collecting data on what works and what doesn’t work limiting because of the small patient population. Another difficulty is the wide range in symptoms that people with XLH can have. RUDY addresses this by releasing frequent surveys over time to better understand how XLH changes as we age.

Why is RUDY important right now?
NICE, who are assessing the cost effectiveness of burosumab in the eligble adult XLH population require more data on specific aspects of daily life. Those include: impact of pain, family and carer burden, effectiveness of phosphate and alfacalcidol, pain killers, mental health, fractures, and fractures specifically before during and after any treatment and finally your location.

Which surveys should I complete within RUDY?
There are many surveys which may take approximately 1-2 hours to complete. Please login and locate the ‘to do’ page where you will have 2 sections. All surveys are preferable, however if time is pressing, here are the ones we need completing urgently:

Activities of daily living
Quality of life
Usage of healthcare
Fatigue
Pain
Mental wellbeing
Diagnosis
Medication
Are you a carer
Height and weight
Fracture Map – Please add the number of fractures, including ones from many years ago. We need the month and year of recent fractures in the last 5 years. We need everyone to tick either never had or my fractures are completed.

Profile Page
Please add your “Post Code” so we can check how geography affects XLH care.
Please complete the ethnicity section.
And add your main consultant.

In the Diagnosis section, you have the option to email rudy@ndorms.ox.ac.uk to send us a photo or scan of your clinic letter, confirming your patient record.

Complete the consent form where you can change your preferences at any time.

There are different appraisal bodies across the UK. The current guidance is for England, but will be highly influential across the UK.

• England – National Institute for Health & Care Excellence (NICE) 
• Wales – All Wales Medicines Strategy Group (AWMSG) 
• Northern Ireland – NICE/Department of Health and Social Care (DHSC) 
• Scotland – Scottish Medicines Consortium (SMC) (burosumab was recommended by the SMC in February 2023, XLH UK contributed to this appraisal)
• Once a new treatment has a license, drug appraisal bodies weigh up the price a company has asked for against the clinical trial and other relevant data. They then recommend whether the drug will be clinically- and cost-effective for the NHS, in the context of available budget. 
• The NHS is legally obliged to fund drugs recommended by these bodies. However, it also works the other way. If a drug is not recommended, then the NHS is not obliged to fund it. 

NICE’s committee produced draft guideance and showed that burosumab is a clinically effective treatment, with important benefits for adults with XLH but it cannot be considered to offer sufficient value for money at the current price for them to be recommended for routine use on the NHS. You can find out more about the methods and processes used to assess NHS medicines on NICE’s website. 

The committee recognised the range of challenging symptoms caused by XLH, the large symptom burden it has, the significant effect on the quality of life for those with XLH and their families, as well as the evidence base after the several years of data collection through interim early access agreements. You can read the draft guidance in full here.

XLH UK conducts research through surveys and interviews which have been invaluable in providing decision makers with information about the lived experiences of individual and families with XLH. Alongside providing data to NICE as part of the NICE appraisal process, the charity is also a stakeholder. As a representative patient group we can submit additional evidence, call for a wide range of outcomes to be considered as part of the assessment and continue to campaign for all people with XLH to have access to innovative treatments when they need it. 

In March 2021, NICE had the first scoping meeting, where stakeholders including XLH UK, gathered with NICE to discuss the best route to assess burosumab for treating XLH in adults.

We were able to highlight:

• Background information on XLH in adults and the different types of medicines people with XLH may need to take. 
• Which existing medicines to compare the treatment against to understand how effective they are. 
• Whether all outcome measures have been included that will capture all the benefits of the treatment. 
• The significant impact of this treatment for most people with XLH who are eligible to take them.

After a series of discussions with NICE, it was decided that the medicine would be appraised by the Single Technology Appraisal program.

Near the end of 2022, many of you shared your experiences of burosumab to inform XLH UK’s evidence submission. Thanks to 129 individuals in the XLH community, we were able to demonstrate the significant impact that living with XLH can have on your daily life. The XLH community also identified a wide range of benefits to burosumab, including: 

• Convenience of regimen, which also improves effectiveness by reducing non-compliance. 
• Reduced need for corrective orthopaedic surgery.
• Reduced need for pain medication.
• Reduced disability.
• Reduced family and financial burden.
• Increased emotional wellbeing and self-esteem due to increased ability, mobility, function and reduced pain. 

It was in March 2023, that XLH UK provided evidence consisting of Patient Organisation Submission paper and our own research. Our evidence, alongside evidence from clinical experts and Kyowa Kirin, formed the final submission. This allowed NICE’s Technical and Evidence Review Group to assess the cost effectiveness of burosumab in the eligible adult population.

On November 08 2023, NICE’s independent committee met and presented on burosumab. Clinical experts, XLH UK and a patient expert participated. Representatives from Kyowa Kirin were also present and responded to questions from the committee. The second half of the meeting was held in private, and the committee agreed their draft recommendations. 

Following the public consultation period a NICE executive committee met on February 15th to discuss the consultation responses. As part of this, XLH UK contributed, sharing the views and experiences of people with XLH and their families. We will be advised when a final decision is ready to be published and will update the community then. 

While the NICE appraisal is ongoing, access to treatment will continue. 

NICE has already appraised and recommended the use of burosumab to all children with XLH who are aged 1-16 years. Therefore, NHS England, NHS Wales, will continue to prescribe burosumab to eligible children regardless of the outcome for adult treatment.

NHS Scotland evaluated burosumab for children separately and under SMC guidance confirmed that burosumab will be available for children.

We do not know. As a registered stakeholder, XLH UK will be informed of the outcome in confidence after the meeting. The outcome will be publicly released once the guidance is published on the NICE website several weeks after the meeting. 

While the NICE appraisal is ongoing, access to treatment will continue. This is not a typical process for NICE to undertake and we do not know exactly what will happen at each stage. The initial recommendation announced by NICE on 29 November 2023 is not a final decision, it’s a step in the wider appraisal process and we will continue to advocate for access for everyone who could benefit, now and in the future. 

• Closing date for the RUDY Study and Carer Burden survey: 13 December 2023
• Closing date for input to consultation: Wednesday 03 January 2024 
• Second evaluation committee meeting: Wednesday 15 February 2024 
• If a decision is not reached at the second committee meeting, further discussions will take place. 
• Timescales for NICE appraisals are set regardless of what the medication or technology they are assessing. What a future timescale is depends on the outcome of the next stage and may be impacted by what Kyowa Kirin or NHS England decide to do. 
• The outcome will be published on the NICE website several weeks after guidance is finalised. We will be notified in advance of likely publication date.

No, it does not apply to the whole of the UK.

In Wales, guidelines produced by NICE apply (subject to approval by the Welsh authorities) and in Northern Ireland the majority of NICE guidelines apply (subject to approval by the relevant Northern Ireland authorities).

In Scotland, the Scottish Medicines Consortium (SMC) recommended the use of burosumab in February 2023 for in the eligible adult population.

You can help by completing our 5-Step Action Plan by December 13th.

The plan has been carefully created to gather additional evidence that XLH UK, along with clincial experts, will be submitting back to NICE in time for the 2nd Committee Meeting.

XLH UK and clinical experts will also be responding to the consultation, to highlight the vital importance of burosumab to the current and future health of adults with XLH.

For those who are unable to submit comments using the online form, responses can be submitted by post or email. However, respondents are strongly encouraged to respond using the online form if they are able to. 

Postal address for consultation submissions: (quote the ID number ID3822 in your letter)

Vonda Murray – Project Lead 
Technology Appraisals 
National Institute for Health and Care Excellence 
Level 1A, City Tower 
Piccadilly Plaza 
Manchester M1 4BT  

We know NICE’s update about its appraisal on 29 November is concerning for many of you and we are here to support you. Please contact us on contact@xlhuk.org and we will get back to you as soon as we can. 
 
It’s important to emphasise that this is not a final decision from NICE and doesn’t affect anyone currently taking burosumab. 
 
We are hopeful that there will be a swift resolution to this uncertainty and are urging Kyowa Kirin, NICE and the NHS to work together to find a solution.