TO BE PUBLISHED June 2025
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This conference will discuss next steps for diagnosis, care, and treatment of rare diseases in England.
Policy
It is bringing stakeholders and policymakers together to assess practical steps following the publication of DHSC’s England Rare Diseases Action Plan 2025. Areas for discussion include ways forward for encouraging rare disease research and medicine development, and improving the speed of diagnosis and equity in access to treatment.
Delegates will consider what will be needed in the plan if it is to achieve its aims, including commitments to digitalise genomics for improved patient and clinical access, expand the NHS Genomic Networks of Excellence, and utilise existing medicines in new ways.
Clinical trials and regulation
Sessions will assess latest developments in improving the delivery of rare disease clinical trials, addressing longstanding challenges, and building a regulatory environment that supports innovation while prioritising patient safety.
Areas for discussion include new clinical trial regulations such as the Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2024, which aims to foster a responsive innovation framework that supports a more proportionate and flexible approach to trial approvals and oversight, alongside measures to strengthen patient safety. There will also be discussion on new guidance to support stakeholders through the regulation’s 12-month implementation period, and options to support the MHRA in tackling challenges in rare disease research, including the limited number of participants available for trials.
New treatments
Discussion will examine the progress of the Rare Therapies Launch Pad in developing new pathways for bringing novel medicines to patients, particularly for children with life-threatening conditions.
They will also assess next steps for regulating highly personalised and individualised therapies. Following the Action Plan’s announcement that the Highly Personalised Medicines Expert Working Group will widen its remit, sessions will consider what is needed to provide guidance on individualised genetic therapies. There will be discussion on supporting NHS delivery of such treatments, including development of an operational framework for delivering n-of-1 gene therapies.
The agenda will also examine priorities for simplifying how effective new treatments are assessed and adopted. Attendees will evaluate the role of the NICE Highly Specialised Technologies (HST) programme, particularly in light of recent changes to routing criteria aimed at improving clarity and support for innovation in technologies where strong evidence is more challenging to gather.
Patient care pathways
Further discussion will focus on how patient care can be improved and made more efficient, including incentivising the delivery of clinics for multi-system disorders that allow patients to see several specialists in one visit. Delegates will also consider opportunities to support innovation in patient care. They will assess commissioning and clinical priorities as integrated care boards take on responsibility for specialised services from April 2025, and examine the longer-term future for specialised commissioning in the NHS.
Sessions will look at recent approaches to detection and diagnosis, such as the Generation Study pilot of whole genome sequencing in newborns.
Workforce, data and international alignment
The agenda includes discussion on workforce training and raising awareness of rare conditions, alongside wider efforts to support early diagnosis and better outcomes for patients. Attendees will consider opportunities for collaboration at national and international levels, including how data and expertise can be shared to drive research and innovation.
Overall areas for discussion include:
- policy: the Rare Diseases Action Plan 2025 - implementation of new multi-system clinics, regulatory support for clinical trials, and NHS readiness for individualised gene therapies
- regulation: proposed changes to NICE’s HST evaluation pathway - addressing potential treatment eligibility issues - assessing alternative options for cost-effectiveness alongside patient access
- workforce: addressing challenges in workforce capacity, funding, and patient access - training needs to increase awareness of rare conditions
- clinical trials:
- impact of new clinical trial regulations - priorities for a flexible and innovation-friendly regulatory environment for clinical trials
- addressing challenges in recruiting rare disease trial participants pathways for accelerated and safe approval of therapies
- individualised therapies: integration of n-of-1 gene therapies - addressing regulatory and operational challenges in delivering highly personalised treatments - long-term sustainability
- care coordination: expansion of multi-system disorder clinics - reducing appointment burdens on patients and families - achieving equitable access to specialist treatment and care
- early detection and diagnosis: whole genome sequencing in newborn screening - progress and next steps for delivering faster final diagnosis - integrating genomic data into routine care
- accelerating R&I: incentives for rare disease medicine development - public-private collaboration in bringing novel treatments to market - centring patient experience and safety within research
- new treatments: incentivising delivery of clinics for multi-system disorders - NICE’s HST programme for evaluating rare disease treatments - developing an operational framework for n-of-1 gene therapies
- international collaboration: improving data and expertise-sharing with global partners - learning from best practice - opportunities for alignment of regulatory frameworks for rare disease therapies
All delegates will be able to contribute to the output of the conference, which will be shared with parliamentary, ministerial, departmental and regulatory offices, and more widely. This includes the full proceedings and additional articles submitted by delegates.
