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2024 Action Plan for the UK Rare Diseases Framework: developing access for rare disease therapies

Sudesh Basra, Director | 4/8/2024

In this update, Sudesh Basra, Director, collates news from the UK about plans to pilot exciting new technologies for rare disease in 2024, and provides a snapshot of plans within the 4 priority areas of the UK’s Rare Diseases Framework.

In February, the 2024 action plan was published as part of the 5-year programme for the UK Rare Diseases Framework. Two actions are aimed specifically at improving health equity and 5 new actions were announced across the 4 designated priority areas of the Framework. These include the launch of 8 pilots for the Innovative Devices Access Pathway and the Rare Therapies Launch Pad, which aims to develop a pathway for children with rare conditions to access individualised therapies. These updates are summarized here to provide you with a snapshot.


UK Rare Diseases Framework in 20241

Following on from NHS England’s 2022 and 2023 action plans, the newly released 2024 plans for the UK Rare Diseases Framework see 7 additional areas of focus across the designated 4 priorities:


Priority 1: Helping patients get a final diagnosis faster

Without this there could be serious effects on a patient’s mental and physical health, which could have significant cost implications for the NHS. The action relating to funding for whole body scans (see below) will contribute to delivery of this priority, although no new specific actions have been proposed for this priority in 2024.


Priority 2: Increasing awareness of rare diseases across the healthcare system

This is to focus on helping patients get a diagnosis faster and ensuring they receive appropriate clinical care, thereby supporting quality and equity of care for patients.

Two key actions for executing this are:

Action 30: developing a genomics communication skills resource
Providing training for healthcare professionals to enable sensitive conversations with patients and ensure the patient feels supported. This includes discussions about the gathering of genomic information, consent for diagnostic genomic testing, and feedback of results.

Action 31: developing the specialist genomics workforce through the Genomics Training Academy (GTAC)
Building on the expertise of the specialist genomics workforce through the GTAC, the action is to upskill competencies required to deliver the Genomic Medicine Service.


Priority 3: Better coordination of care

NHS England is in the process of developing networked models of care across health and social care. If these networked models of care are successful, they can be used as models for other conditions and rolled out more widely.

Action 32 will ensure patients with inherited metabolic disorders (600 disorders and 11,000 patients in care) or amyloidosis (incidence of 800 new cases seen at the National Amyloidosis Centre) can access specialist care and be treated or cared for as close to home as possible.


Priority 4: improved access to specialist care, treatment, and drugs

Three main areas of action are being undertaken to achieve this priority.

Action 33: NHS England is developing a funding mechanism that sufficiently incentivises centres to undertake whole body scans on individuals with rare genetic conditions that result in a predisposition to developing cancer prematurely. The aim is to develop capacity and capability in geographically equitable locations and to address funding, which was cited as the most frequent barrier by provider centres, in order to meet the ambition in the NHS Long Term Plan that 75% of cancers should be diagnosed at an early stage by 2028 and to improve survival and outcomes for patients.

Action 34: The Innovative Devices Access Pathway (IDAP) announced 8 pilots to support tech companies to bring their devices to market and, in the process, to test the elements of the IDAP (see below).

Rare Therapies Launch Pad: Announced in November 2023, the Rare Therapies Launch Pad aims to develop a pathway for children with rare conditions to access individualised therapies. The programme’s first project is the use of antisense oligonucleotides, which are individualised therapies to treat children with ultra-rare and life-threatening brain conditions.

The aims of the pilot are to:

  • Identify barriers and opportunities to create a sustainable and scalable approach to delivering individualised therapies for children
  • Establish a proportionate regulatory pathway that may be applicable more widely across conditions and treatment modalities
  • To help establish potential routine funding for individualised therapies beyond the pilot

The pilot is expected to run over a number of years. Initially, 10 to 15 patients will be enrolled but this number will be expanded if the pilot is successful. Funding for the pilot, running from 2023 to 2026, will be from commercial and not-for-profit entities and existing budgets of public sector bodies.


The Innovative Devices Access Pathway

To improve patient access to innovative and transformative medical devices, 8 pilots have been announced to support technology companies in bringing their devices to market and, in the process, to test the elements of the IDAP. These pilots are being launched by the Innovative Devices Access Pathway initiative, operated by MHRA, NHS England, NICE, Health Technology Wales, and the Scottish Health Technology Group.


The 8 technologies are:

1. Liver cancer treatment using focused ultrasound
The medical device uses histotripsy, a non-invasive, non-ionizing, and non-thermal technique in which focused ultrasound waves cause the mechanical breakdown of the tumour without damaging non-target tissue. It could offer a more accessible and safer alternative to the conventional treatments of surgery, radiotherapy, and thermal ablation.


Lung health

2. Oxygen measuring technology irrespective of skin pigmentation
This device detects oxygen levels from the inner ear canal and is a potential alternative to oximeters, which are devices clipped over the end of a fingertip. Although the latter are used widely to assess how well the lungs and circulatory system are working, research has suggested that oximeters may not accurately detect falling oxygen levels in people with darker skin. Using the inner ear canal instead, which is not pigmented irrespective of the person’s skin colour, could provide better readings.

3. Using AI to predict patients at risk of hospitalisation for chronic obstructive pulmonary disease
This is through analysis of data collected from wearable devices, sensors, and apps, and uses AI to predict which patients are at greater risk of hospital admissions. This allows patients to be monitored and treated more effectively, while potentially reducing pressure on hospitals.


Alzheimer’s disease

4. Amyloid plasma panel
This is a blood test-based in vitro diagnostic device that has the potential to help clinicians decide whether patients with mild cognitive impairment should undergo the more invasive CSF test or expensive PET-CT imaging to confirm Alzheimer’s disease.


Cardiovascular disease

5. Portable diagnostic device for stroke identification
This is a portable in vitro diagnostic blood test to identify people with large artery blockage stroke. It could aid ambulance paramedics in triaging patients requiring thrombectomy to dedicated stroke centres.



6. Algorithm-based infection predictor
This is an in vitro diagnostic device that uses a molecular test and a cloud-based algorithm to accurately predict infection/sepsis status up to 3 days before conventional clinical diagnosis is possible. It has the potential to reduce unnecessary antibiotic use and delays in appropriate treatment.

7. Self-test diagnostic device for neutropenia
This is an in vitro diagnostic test that enables patients to self-test using a finger-prick blood test to measure 2 key biomarkers. The related app allows the patient to report the results through a telephone conversation with the hospital and be triaged at home, reducing unnecessary visits to emergency departments and unnecessary antibiotic treatment for patients not at-risk, while also identifying at-risk patients earlier on, enabling them to be treated more quickly.


Multiple sclerosis

8. Multiple sclerosis fatigue app
This is a smartphone medical app that recommends exercises, cognitive behavioural therapy, and targeted physical activity programmes, which may help with fatigue related to multiple sclerosis. Each of these options is in a personally customisable format with expert guidance from healthcare professionals. The app is intended to improve accessibility to NICE-recommended symptom management programmes for fatigue related to multiple sclerosis.


Two additional actions in the 2024 plan aim to address any issues about health equity.

Action 35: In 2024, NHS England will develop and disseminate a health inequalities toolkit, to help people working in highly specialised services to reduce health inequalities and improve equity in their everyday service delivery.

Action 36: NHS England will review the extent to which changes in patient access to Highly Specialised Services were not anticipated and assess whether mitigation is needed to reduce inequalities in access.

These initiatives can be seen as building blocks to develop a more advanced service infrastructure in the UK, including a more progressive access landscape, to enable patients to benefit from leading-edge technologies. The question for our clients is whether, and how quickly, this facilitation programme will shape the health service to match the needs of their pipeline technologies.


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  1. England Rare Diseases Action Plan 2024: main report – GOV.UK (
  2. The Innovative Devices Access Pathway (IDAP) – GOV.UK (

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