A public consultation has been launched on a draft Rare Disease Therapies Regulatory Framework, with comments accepted until 30 July 2026.

The proposed framework aims to address challenges associated with developing therapies for rare diseases by introducing a single, flexible authorisation, the Investigational Marketing Authorisation (IMA), which would allow controlled early access to a therapy while further clinical and real-world evidence continues to be generated.

According to the consultation, rare diseases affect more than 3.5 million people in the United Kingdom, yet only around 5% of rare diseases currently have an approved medicinal treatment.

Challenges in Rare Disease Therapy Development

The consultation highlights several challenges associated with rare disease therapy development, including:

• Extremely small patient populations
• Limited natural history data
• Difficulties conducting randomised controlled trials
• Individual- or family-specific genetic variants in some conditions

These factors can make traditional regulatory pathways difficult or impossible to use.

The framework is primarily intended for therapies targeting rare conditions, typically those affecting approximately 1 in 50,000 people or fewer in the United Kingdom.

Proposed Investigational Marketing Authorisation

The draft framework proposes a single, flexible authorisation known as the Investigational Marketing Authorisation (IMA).

According to the consultation, the IMA would allow controlled early access to a therapy while additional clinical and real-world evidence continues to be generated.

The framework describes the IMA as a single authorisation that combines elements of clinical trial authorisation and marketing authorisation, supported by ongoing regulatory review as evidence accumulates throughout the product lifecycle.

The draft framework outlines a regulatory pathway covering:

• Eligibility criteria for the route
• Evidence requirements
• Patient engagement expectations
• Lifecycle oversight
• The process for transitioning to a full Marketing Authorisation where appropriate

The stated objective is to enable timely patient access to promising therapies for very rare diseases while maintaining appropriate standards of safety, quality, and efficacy.

Patient Engagement and Communication

The consultation places significant emphasis on patient engagement and communication throughout the development process.

According to the draft framework, people affected by rare diseases should be involved throughout therapy development. The framework also emphasises ongoing patient communication, including continued discussion of potential benefits, risks, uncertainties, and emerging evidence throughout the treatment journey.

The consultation specifically invites feedback on sections related to:

• Patient communication
• Ongoing consent
• Support for decision-making

Evidence Generation Approaches

The draft framework outlines evidence generation approaches that may help support regulatory decision-making where conventional clinical development programmes are difficult or impractical because of very small or highly heterogeneous patient populations.

These approaches include:

• Adaptive clinical trial designs
• Real-world data
• Prior knowledge
• Predictive modelling

According to the consultation, these tools may help support evidence generation in situations where traditional evidence requirements are difficult to fulfil.

Technology-Agnostic Framework

The proposed framework is designed to be technology-agnostic and adaptable to emerging scientific developments.

According to the consultation, the framework is intended to support a broad range of innovative therapies, including advanced and highly personalised treatments, while remaining flexible enough to accommodate future technological advances.

Stakeholder Feedback

Feedback is being sought from a broad range of stakeholders, including:

• Manufacturers
• Developers
• Clinicians
• Researchers
• Patient organisations
• Carers
• Families
• Other interested stakeholders

The consultation particularly welcomes comments on patient-focused aspects of the framework.

Legislative Considerations

The consultation notes that implementation of the proposed IMA pathway would require legislative changes or additional regulatory powers before the framework could be fully introduced.

Feedback received through the consultation will help inform future policy development and potential implementation plans.

Documents

Draft rare disease therapies regulatory framework

Draft rare disease therapies regulatory framework

Survey questions: Draft rare disease therapies regulatory framework

For more information: Open consultation Draft rare disease therapies regulatory framework

Supporting Rare Disease Clinical Development

The proposed framework introduces a new regulatory pathway for rare disease therapies, covering authorisation requirements, evidence generation, lifecycle oversight, and transition to full Marketing Authorisation. As regulatory expectations continue to evolve for innovative and highly specialised therapies, strategic regulatory planning remains essential throughout development and authorisation.

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