UK Rare Therapies Launchpad: What Health Professionals Need to Know

More than 3.5 million people in the UK live with a rare disease (1), yet care remains fragmented and access to targeted therapy is still limited. For health professionals, this creates significant challenges in clinical management and patient support. The Rare Therapies Launch Pad (RTLP), established in 2023, is the UK’s response to this unmet need, providing a structured pathway for developing and delivering highly individualised therapies for ultra-rare and life-limiting conditions. Alongside the 2025 Rare Diseases Action Plan (2) and recent regulatory approvals, the RTLP represents a fundamental change in how therapies for rare diseases will be integrated into NHS practice.

The RTLP aims to create an end-to-end infrastructure for rapid development and delivery of bespoke treatments, starting with antisense oligonucleotides (ASOs) for ultra-rare neurological conditions. These are also known as N=1 therapies (3). The initial ASO pilot will test feasibility over 3–5 years, including real-world outcomes, regulatory processes, and reimbursement models.

Medicines and Healthcare products Regulatory Agency (MHRA), National Institute for Clinical Excellence (NICE), and NHS England are increasingly aligned on accelerated approvals. The table below lists recent rare therapy approvals and how these are integrated into the NHS.

Recent Rare Therapy Approvals and NHS Integration

Therapy	Indication	Clinical Notes
Belantamab mafodotin	Relapsed/refractory multiple myeloma	First-in-class antibody-drug conjugate; NHS is the first health system globally to implement. Requires monitoring for ocular toxicity.
Tebentafusp	Uveal melanoma	First therapy with proven survival benefit in this rare eye cancer; NICE approval enables NHS rollout.
Burosumab	X-linked hypophosphataemia	Extended NHS access to adults as well as children. Improves phosphate metabolism and skeletal outcomes.
Leniolisib	Activated PI3Kδ syndrome (APDS)	Approved in August 2025; UK is first in Europe to offer this. Clinicians should monitor immunological response and infection risk.
Exa-cel (Casgevy)	Sickle cell disease & β-thalassemia	CRISPR-based gene therapy. NHS to treat ~50 patients annually. Requires intensive preconditioning and specialist follow-up.
Sotatercept	Pulmonary arterial hypertension	Self-injectable biologic that targets TGF-β signalling; may alter long-term disease trajectory.

What health professionals need to know

Clinicians need to remain alert to opportunities for genetic testing and referral into genomic services. Health professionals may increasingly be involved in identifying eligible patients, coordinating diagnostic confirmation, and participating in early access or compassionate-use programmes.

Early diagnosis will be key to accessing RTLP pilots and future bespoke therapies. To achieve this, greater collaboration between specialist centres, genomics laboratories, and trial networks will be needed. Care teams will need training on novel mechanisms (e.g., ASOs, CRISPR editing, antibody-drug conjugates). Health professionals may be asked to contribute real-world data to support conditional or adaptive reimbursement. They will also need to navigate expectations around access, given the scarcity of evidence and high costs. N of 1 trials are an established way to produce evidence of effectiveness in rare diseases and are level 1 evidence in the Oxford-Centre for Evidence Based Medicine Evidence Hierarchy for individual treatment decisions.

The RTLP represents a structural rethinking of how the NHS will deliver precision medicine to the most underserved patients. Keeping up with emerging therapies, referral pathways, and trial opportunities will be essential to ensuring patients with rare conditions benefit from this transformative initiative in UK healthcare.

RTLP pilot evaluation

The pilot has established a framework to address the complexities of developing and regulating treatments for single patients with rare diseases. The RTLP pilot evaluation (post-2026) will assess the pilot's success in creating an "economically viable model" for "N=1" treatments by bringing together scientists, regulators, and a national payer to negotiate a system that bridges the gap between patient and science. The broader therapeutic pipeline includes expanded use of RNA-based treatments, cell and gene therapies, and repurposed drugs. The pilot evaluation will determine whether bespoke therapies such as these can be scaled and sustainably integrated into NHS care.

References

1. Department of Health and Social Care. UK Rare Diseases Framework. 9 January 2021.

2. Department of Health & Social Care. England Rare Diseases Action Plan 2025: main report. 28 February 2025

3. Jonker, Anneliene H., et al. The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap. Nature Reviews Drug Discovery 24.1 (2025): 40-56.