Morning, Thursday, 5th June 2025
Online
This conference will discuss next steps for diagnosis, care, and treatment of rare diseases in England.
It is bringing stakeholders and policymakers together to assess practical steps, following the recently published England Rare Diseases Action Plan 2025, including ways forward for incentivising rare disease research and medicine development, and for achieving faster diagnosis and equitable access to treatment. Delegates will consider what will be needed from the plan to support objectives, looking at commitments on digitalising genomics, expanding the NHS Genomic Networks of Excellence, and utilising existing medicines in new ways.
Strategies for addressing delivery challenges for rare disease clinical trial will be discussed, following draft Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2024, including approaches for creating a flexible and innovation-friendly regulatory environment centred on patient safety. Delegates will discuss options for changes to clinical trial legislation that could enable the MHRA to address longstanding challenges in rare disease research, such as limited numbers of participants available for trials. They will also look at the Rare Therapies Launch Pad, and how it can best achieve aims for developing new pathways for bringing novel medicines to patients, particularly children with life-threatening conditions.
Delegates will also consider ways forward for the regulation of highly personalised and individualised therapies, following scope expansion of the Highly Personalised Medicines Expert Working Group to include regulatory guidance on individualised genetic therapies. Stakeholders will examine what is needed to support the NHS as it prepares to deliver these groundbreaking treatments, including the development of an operational framework for service delivery of ‘n-of-1’ gene therapies.
Sessions will also consider options for streamlining adoption of effective new treatments, as NICE launches a review of its highly specialised technology programme for evaluating rare disease treatments. We expect discussion on how concerns might be addressed, including proposed refinements to NICE’s criteria aiming to reduce the number of treatments eligible for assessment under the HST pathway, potentially affecting patient access to future therapies.
Further discussion will focus on ways forward for improving and streamlining patient care, including incentivising the delivery of clinics for multi-system disorders to enable patients to see multiple specialists in a single visit in an aim to reduce logistical burden of appointments. Delegates will also assess latest approaches to detection and diagnosis, such as the Generation Study, and its pilot of whole genome sequencing for newborns.
Next steps for workforce education and awareness-raising on rare conditions will also be examined, as well as wider potential approaches for supporting improvements in early diagnosis and patient outcomes. Attendees will discuss opportunities for national and international collaboration, including strategies for sharing data and expertise to support research and innovation.
With the agenda currently in the drafting stage, 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
- clinical trials:
- impact of the draft Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2024 - addressing challenges in rare disease trial recruitment
- opportunities for innovation - the future for pathways for accelerated, 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
- diagnosis and early detection: whole genome sequencing in newborn screening - workforce training needs to increase awareness of rare diseases - integrating genomic data into routine care
- accelerating R&I: incentives for rare disease medicine development - public-private collaboration in bringing novel treatments to market - patient-centred research design
- international collaboration: improving data and expertise-sharing with global partners - learning from best practice - opportunities for alignment of regulatory frameworks for rare disease therapies
