The Clinical Priorities Advisory Group (CPAG) makes recommendations on NHS England’s approach to commissioning treatments that are not routinely assessed through National Institute for Health and Care Excellence technology appraisals. Investment decisions are taken against a discretionary funding envelope which is set annually as part of the financial planning cycle based on affordability.

The 2026/27 CPAG annual prioritisation round was held in May 2026, and the recommendations are currently being considered. In addition, CPAG continues to meet regularly throughout the year to consider clinical policy propositions that are cost-neutral or cost-saving.

While no assessment has been made of trends in CPAG recommendations and their impact on people affected by rare diseases, all clinical policy propositions are supported by an Equality and Health Inequalities Impact Assessment (EHIA). The EHIA considers the potential impact of commissioning decisions on equality, health inequalities, and access to the relevant treatment for affected patient groups.

The Government is committed to improving the lives of those living with rare diseases under the UK Rare Diseases Framework. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance the priorities of the framework, including getting a diagnosis faster and improving access to specialist care, treatments, and drugs.

The Government remains committed to improving outcomes for people living with rare diseases, including inclusion body myositis and other rare progressive muscle disorders, through the UK Rare Diseases Framework and successive England Rare Diseases Action Plans. Increasing awareness among healthcare professionals is one of the framework’s four priorities.

As set out in the 2026 England Rare Diseases Action Plan, NHS England continues to expand rare disease education through the National Genomics Education Programme, including GeNotes, a clinical resource that now covers more than 150 rare diseases and has been integrated into primary care decision-support tools used by general practitioners. NHS England is also developing resources to support healthcare professionals in having sensitive conversations with patients receiving a rare disease diagnosis, while the Genomics Training Academy provides education and training to the specialist genomics workforce.

These initiatives support earlier recognition, diagnosis, and appropriate management of rare conditions.

Advice and Guidance (A&G) is not, and has not been, mandated for use prior to a formal referral. Practices are expected to use A&G to support clinical decision making in relation to a planned care referral where clinically appropriate, alongside sending traditional referrals and following locally agreed referral pathways, and this reflects longstanding practice.

A&G supports clinical decision making, does not override it, and does not remove the clinician’s decision to refer when referral is in the patient’s best interests.

We continue to support clinicians through guidance, pathway design, and local governance arrangements to ensure specialist triage models such as A&G are used safely, proportionately, and in a way that preserves clear clinical accountability, including for those with complex, chronic, or rare conditions.

Escalation routes for concerns about A&G request outcomes will continue to operate through locally agreed referral pathways and communication processes for general practitioners and patients, supported by improvements to the NHS electronic Referral System. Where patients have concerns regarding outcomes, local patient advice and liaison service teams can provide advice and support.

The Department funds research through the National Institute for Health and Care Research (NIHR). The NIHR funds clinical, public health, and social care research and works in partnership with the National Health Service, universities, local government, other research funders, patients, and the public, and also funds global health research. NIHR funding is not typically ringfenced for specific conditions. Instead, research proposals are assessed through an open, competitive peer review, with funding decisions made on the basis of scientific quality, the importance of the research question to patients and health and care services, and value for money. This approach ensures that the strongest proposals with the greatest potential impact are supported.

In this disease area over the last five financial years, from 2020/21 to 2024/25, the Department committed £40.4 million on new research projects alongside supporting infrastructure into inclusion body myositis and other rare progressive muscle disorders. This has included clinical trials and novel therapies at NIHR clinical research facilities and NIHR biomedical research centres looking at gene silencing, micro-dystrophin, and disease-modifying therapies for neuromuscular condition.

The NIHR’s Be Part of Research allows people to find and take part in health and care research, and shows that there are currently eight studies where researchers are actively looking for participants in several aspects of muscle disorders. Further information on Be Part of Research is available at the following link:

https://bepartofresearch.nihr.ac.uk/

The Government remains committed to improving outcomes for people living with rare diseases, including Friedrich's Ataxia, through the UK Rare Diseases Framework and England Rare Diseases Action Plans.

The NHS Essex Integrated Care Board (ICB) supports residents with rare neurological conditions, including Friedreich’s ataxia, through locally commissioned core services such as primary care, local neurology, community rehabilitation, therapy services, wheelchair and equipment services, and the management of associated complications. For complex inherited ataxias, patients may require referral to specialist neurology, neurogenetics, or ataxia services. Some of these elements sit within NHS England’s specialised commissioning arrangements, rather than being commissioned solely by the ICB. The NHS Essex ICB works collaboratively with other ICBs in the East of England, NHS England specialised commissioning teams, and specialist providers, to support timely local access, joined-up care and appropriate referral for those elements requiring specialist or nationally commissioned expertise.

NHS England has revised the national service specification for specialised neurology following extensive consultation. The service specification was published on 13 August 2025 and includes guidance on both specialised and core neurology services. The specification includes an Annex which provides greater clarity for neurology sub-specialties, including the categories of both movement disorders and neurogenetics into which ataxias fall.

The Government is committed to improving the lives of those living with rare diseases under the UK Rare Diseases Framework. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance the priorities of the framework.

The National Institute for Health and Care Excellence (NICE) published a Quality Standard for Rare Diseases in February 2026 covering diagnosing, managing and treating rare diseases in children, young people and adults. NICE Quality Standards are concise statements designed to drive measurable improvements in care, and Integrated Care Boards are expected to take them fully into account in the design of services that meet the needs of their local populations.

Rare autoimmune rheumatic diseases, such as lupus, scleroderma, myositis, Sjögren’s disease and vasculitis, do not each have their own dedicated service specifications. Instead, care for these conditions is delivered through Specialised Rheumatology Services and Specialised Immunology Services, alongside linked services including renal, dermatology, endocrinology, hepatology and neurology. These service specifications set out the core requirements for clinical teams and how they should coordinate patient care. Where a specific care coordinator role is not defined within the specification, clinical nurse specialists often take on this responsibility.

The National Disease Registration Service (NDRS) in NHS England collects, curates, quality assures and analyses data on people with rare and congenital conditions across the whole of England. NDRS continues to develop approaches to improve rare disease case ascertainment through collection and linkage of multiple datasets. For rare autoimmune conditions specifically, NDRS has reported on several of these conditions within the Rare Conditions Registration Statistics and has published several peer-reviewed articles in this area.

NHS England requires data submission to the relevant Specialised Services Quality Dashboard as part of contractual requirements. These often include specific patient experience measures such as quality-of-life scores. In the future, it is expected that the Department will maintain a national framework of standards, service specifications and policies to support services.

The Government is committed to improving the lives of those living with rare diseases under the UK Rare Diseases Framework. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance the priorities of the framework.

The National Institute for Health and Care Excellence (NICE) published a Quality Standard for Rare Diseases in February 2026 covering diagnosing, managing and treating rare diseases in children, young people and adults. NICE Quality Standards are concise statements designed to drive measurable improvements in care, and Integrated Care Boards are expected to take them fully into account in the design of services that meet the needs of their local populations.

Rare autoimmune rheumatic diseases, such as lupus, scleroderma, myositis, Sjögren’s disease and vasculitis, do not each have their own dedicated service specifications. Instead, care for these conditions is delivered through Specialised Rheumatology Services and Specialised Immunology Services, alongside linked services including renal, dermatology, endocrinology, hepatology and neurology. These service specifications set out the core requirements for clinical teams and how they should coordinate patient care. Where a specific care coordinator role is not defined within the specification, clinical nurse specialists often take on this responsibility.

The National Disease Registration Service (NDRS) in NHS England collects, curates, quality assures and analyses data on people with rare and congenital conditions across the whole of England. NDRS continues to develop approaches to improve rare disease case ascertainment through collection and linkage of multiple datasets. For rare autoimmune conditions specifically, NDRS has reported on several of these conditions within the Rare Conditions Registration Statistics and has published several peer-reviewed articles in this area.

NHS England requires data submission to the relevant Specialised Services Quality Dashboard as part of contractual requirements. These often include specific patient experience measures such as quality-of-life scores. In the future, it is expected that the Department will maintain a national framework of standards, service specifications and policies to support services.

The Government is committed to improving the lives of those living with rare diseases under the UK Rare Diseases Framework. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance the priorities of the framework.

The National Institute for Health and Care Excellence (NICE) published a Quality Standard for Rare Diseases in February 2026 covering diagnosing, managing and treating rare diseases in children, young people and adults. NICE Quality Standards are concise statements designed to drive measurable improvements in care, and Integrated Care Boards are expected to take them fully into account in the design of services that meet the needs of their local populations.

Rare autoimmune rheumatic diseases, such as lupus, scleroderma, myositis, Sjögren’s disease and vasculitis, do not each have their own dedicated service specifications. Instead, care for these conditions is delivered through Specialised Rheumatology Services and Specialised Immunology Services, alongside linked services including renal, dermatology, endocrinology, hepatology and neurology. These service specifications set out the core requirements for clinical teams and how they should coordinate patient care. Where a specific care coordinator role is not defined within the specification, clinical nurse specialists often take on this responsibility.

The National Disease Registration Service (NDRS) in NHS England collects, curates, quality assures and analyses data on people with rare and congenital conditions across the whole of England. NDRS continues to develop approaches to improve rare disease case ascertainment through collection and linkage of multiple datasets. For rare autoimmune conditions specifically, NDRS has reported on several of these conditions within the Rare Conditions Registration Statistics and has published several peer-reviewed articles in this area.

NHS England requires data submission to the relevant Specialised Services Quality Dashboard as part of contractual requirements. These often include specific patient experience measures such as quality-of-life scores. In the future, it is expected that the Department will maintain a national framework of standards, service specifications and policies to support services.

The Government is committed to improving the lives of those living with rare diseases under the UK Rare Diseases Framework. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance the priorities of the framework. NHS England’s National Disease Registration Service, through the National Congenital Condition and Rare Disease Registration Service, owns several actions within the action plan to improve the identification and understanding of people living with rare diseases in England.

NHS England supports continuity of care based on individual need, rather than age alone. Through the Children and Young People’s Transformation Programme, NHS England has published guidance to support effective transition pathways across physical and mental health services, which is available at the following link:

https://www.england.nhs.uk/long-read/supporting-young-people-to-transition-into-adolescent-and-adult-services/

This sets out a zero to 25 year old model of care, with clearer accountability across services and improved support for 16 to 17 year olds, who may be particularly vulnerable to gaps in care. The guidance supports integrated care systems and providers to deliver coordinated, age-appropriate care and was developed with input from young people and clinicians. In addition, the National Institute for Health and Care Excellence has published a revised quality standard on transition from paediatric to adult health services, incorporating feedback from people living with rare conditions and their families or carers.

Last year, the 10-Year Health Plan was published following a national conversation to make the National Health Service work better for people.

We know that significant unmet need remains for people living with rare diseases, and in February this year we published the England Rare Diseases Action Plan 2026 to highlight how delivery of the 10-Year Health Plan will address challenges for people living with rare diseases. The England Rare Diseases Action Plan 2026 is available at the following link:

https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2026/england-rare-diseases-action-plan-2026-main-report

The Department invests over £1.7 billion each year on research through the National Institute for Health and Care Research (NIHR). This includes the NIHR funded RareCare study which aims to better understand what causes delays to diagnosis so we can take steps to address this. The research includes looking at how we can measure time to diagnosis for rare diseases which includes those that are covered by Newborn Blood Spot (NBS).

Another example of NIHR funded research is the evaluation of test accuracy studies in NBS screening and rare disease settings. This project aims to provide guidance on the evidence needed to evaluate the accuracy of NBS screening to ultimately improve the quality of the available evidence base to support better decision making about new or modified screening programmes.

For very rare conditions, it is difficult to generate robust evidence to demonstrate the value of screening, because so few babies are affected. The UK National Screening Committee (UK NSC), which advises the Government on all screening matters, is working with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NBS screening programme.

Information about how the UK NSC makes screening recommendations, and how stakeholders and members of the public can be involved, is available at the following link:

https://www.gov.uk/government/collections/uk-nsc-evidence-consultations-and-reviews

The UK NSC’s terms of reference are available online and can be found via the following link:

https://www.gov.uk/government/organisations/uk-national-screening-committee/about#terms-of-reference

These were last reviewed and updated in 2022. The terms of reference are set by the four United Kingdom health departments and are signed off by the four chief medical officers.

In the last few years, the UK NSC has recommended lung cancer screening, newborn screening for tyrosinaemia type 1, human papillomavirus self-sampling in under-screened women in the Cervical Screening Programme, research activity into rare diseases such as spinal muscular atrophy and severe combined immunodeficiency, the extension of intervals for diabetic eye screening, the use of DNA in the mother’s blood in the Fetal Anomaly Screening Programme, digital pathology in the cancer screening programmes, and extra tests for Edwards syndrome in pregnancy. It has also worked with partners to develop a very large trial on artificial intelligence in breast screening.

The UK NSC uses international published evidence from all across the world. Some countries or regions reportedly screen for a condition when it is only at the pilot or research stage. Some ‘screening programmes’ just test for a condition rather than being end-to-end quality-assured programmes that include diagnosis, treatment, and care. And screening in some countries is delivered regionally, or even just by individual hospitals, rather than nationally. They are therefore not directly comparable to the national screening programmes offered in the UK.

The UK NSC last reviewed screening for metachromatic leukodystrophy (MLD) in 2025. At the November 2025 UK NSC meeting, committee members concluded that there was not enough evidence to support newborn screening for MLD. However, members agreed that MLD would be a good candidate for inclusion in a multi-condition in-service evaluation (ISE) within the UK newborn blood spot screening programme, called EquipoISE. Full details of this review, including the evidence that was considered, are available at the following link:

https://view-health-screening-recommendations.service.gov.uk/metachromatic-leukodystrophy/

EquipoISE is a proposed rolling, multi-condition ISE embedded within the NHS NBS screening programme that would help the UK NSC make timely evidence-based recommendations on multiple rare conditions. EquipoISE would evaluate multiple conditions simultaneously, sharing a single research infrastructure. This would significantly reduce costs and setup time, rather than conducting expensive, one-off studies for each individual rare condition.

The UK NSC is using EquipoISE in its work with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NHS NBS screening programme.

UK NSC members and Department officials met with stakeholders, including ArchAngel MLD Trust, the MPS Society, MLD Support UK, and the Newborn Screening Collaborative, in February this year.

Last year, the 10-Year Health Plan was published following a national conversation to make the National Health Service work better for people.

We know that significant unmet need remains for people living with rare diseases, and in February this year we published the England Rare Diseases Action Plan 2026 to highlight how delivery of the 10-Year Health Plan will address challenges for people living with rare diseases. The England Rare Diseases Action Plan 2026 is available at the following link:

https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2026/england-rare-diseases-action-plan-2026-main-report

The Department invests over £1.7 billion each year on research through the National Institute for Health and Care Research (NIHR). This includes the NIHR funded RareCare study which aims to better understand what causes delays to diagnosis so we can take steps to address this. The research includes looking at how we can measure time to diagnosis for rare diseases which includes those that are covered by Newborn Blood Spot (NBS).

Another example of NIHR funded research is the evaluation of test accuracy studies in NBS screening and rare disease settings. This project aims to provide guidance on the evidence needed to evaluate the accuracy of NBS screening to ultimately improve the quality of the available evidence base to support better decision making about new or modified screening programmes.

For very rare conditions, it is difficult to generate robust evidence to demonstrate the value of screening, because so few babies are affected. The UK National Screening Committee (UK NSC), which advises the Government on all screening matters, is working with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NBS screening programme.

Information about how the UK NSC makes screening recommendations, and how stakeholders and members of the public can be involved, is available at the following link:

https://www.gov.uk/government/collections/uk-nsc-evidence-consultations-and-reviews

The UK NSC’s terms of reference are available online and can be found via the following link:

https://www.gov.uk/government/organisations/uk-national-screening-committee/about#terms-of-reference

These were last reviewed and updated in 2022. The terms of reference are set by the four United Kingdom health departments and are signed off by the four chief medical officers.

In the last few years, the UK NSC has recommended lung cancer screening, newborn screening for tyrosinaemia type 1, human papillomavirus self-sampling in under-screened women in the Cervical Screening Programme, research activity into rare diseases such as spinal muscular atrophy and severe combined immunodeficiency, the extension of intervals for diabetic eye screening, the use of DNA in the mother’s blood in the Fetal Anomaly Screening Programme, digital pathology in the cancer screening programmes, and extra tests for Edwards syndrome in pregnancy. It has also worked with partners to develop a very large trial on artificial intelligence in breast screening.

The UK NSC uses international published evidence from all across the world. Some countries or regions reportedly screen for a condition when it is only at the pilot or research stage. Some ‘screening programmes’ just test for a condition rather than being end-to-end quality-assured programmes that include diagnosis, treatment, and care. And screening in some countries is delivered regionally, or even just by individual hospitals, rather than nationally. They are therefore not directly comparable to the national screening programmes offered in the UK.

The UK NSC last reviewed screening for metachromatic leukodystrophy (MLD) in 2025. At the November 2025 UK NSC meeting, committee members concluded that there was not enough evidence to support newborn screening for MLD. However, members agreed that MLD would be a good candidate for inclusion in a multi-condition in-service evaluation (ISE) within the UK newborn blood spot screening programme, called EquipoISE. Full details of this review, including the evidence that was considered, are available at the following link:

https://view-health-screening-recommendations.service.gov.uk/metachromatic-leukodystrophy/

EquipoISE is a proposed rolling, multi-condition ISE embedded within the NHS NBS screening programme that would help the UK NSC make timely evidence-based recommendations on multiple rare conditions. EquipoISE would evaluate multiple conditions simultaneously, sharing a single research infrastructure. This would significantly reduce costs and setup time, rather than conducting expensive, one-off studies for each individual rare condition.

The UK NSC is using EquipoISE in its work with experts and partner organisations to look at how to make it easier to develop the evidence needed to make robust recommendations on the addition of more rare diseases to the NHS NBS screening programme.

UK NSC members and Department officials met with stakeholders, including ArchAngel MLD Trust, the MPS Society, MLD Support UK, and the Newborn Screening Collaborative, in February this year.

Data from the National Institute for Health and Care Excellence shows that between 2021/22 and 2025/26, the total number of appraisals that were terminated was 100. Over the past five years, 41% of terminated appraisals related to rare disease medicines.

Government responsibility for delivering research into rare diseases is shared between the Department of Health and Social Care, with research delivered via the National Institute for Health and Care Research (NIHR), and the Department for Science, Innovation and Technology, with research delivered via UK Research and Innovation, which includes the Medical Research Council (MRC).

The Department of Health and Social Care invests over £1.7 billion each year on research through the NIHR, including research on rare diseases, such as the RareCare study which aims to better understand what causes delays to diagnosis so we can take steps to address this.

The Government is committed to improving the lives of those living with rare diseases through the UK Rare Diseases Framework. Pioneering research is an underpinning theme of the framework. In the 2025 England Rare Disease Action Plan we introduced a new action to support rare disease research through changes to clinical trial regulations. For rare disease research, where patient populations are small and trial designs often complex, the flexibility and proportionality of this framework will enable more efficient set-up and conduct of clinical trials. We have also made significant investments to support rare disease research. This includes the Rare Disease Research UK Platform, a £14 million investment over five years from the MRC and the NIHR, announced in 2023, which is now established and positioned well within the rare disease research landscape. Further information the Rare Disease Research UK Platform is available at the following link:

https://rd-research.org.uk/nodes/

The Government is committed to improving the lives of those living with rare diseases, and we acknowledge unmet need remains, with just 5% of rare diseases having an approved and effective treatment. The UK Rare Diseases Framework sets out four priorities collaboratively developed with the rare disease community, such as improving access to specialist care, treatments, and drugs, including in Slough. We published the fifth annual England action plan in February 2026, where we report on the steps we have taken to advance these priorities. These include:

• the Medicines and Healthcare products Regulatory Agency (MHRA) developing a framework to enable innovation in rare disease therapies;
• new clinical trial regulations being fully implemented from April 2026;
• the MHRA and the National Institute for Health and Care Excellence (NICE) aligning a pathway for parallel decision making to reduce the gap between marketing authorisation and NICE guidance decisions;
• continuing to review the effectiveness of the Early Access to Medicines Scheme, the Innovative Licensing and Access Pathway and the Innovative Medicines Fund, access pathways for rare therapies; and
• NHS England progressing work to develop an operational framework for individualised therapies.