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For Rare Disease Day, the ABPI’s Director of Regulatory and Early Access Policy Dan O’Connor looks forward to contributing to an innovative initiative to help improve patients’ access to personalised treatments for rare diseases.

People with rare conditions deserve the same treatment opportunities as those with more common conditions – the Rare Therapies Launch Pad aims to help.

Developing medicines in small populations is challenging, particularly so in those patients who have very rare conditions, or single mutations unique to the patient. Despite these challenges, rare disease research is increasingly recognized as a key activity for the pharmaceutical sector. Any new approaches that can help address the high unmet needs of patients are warmly welcomed by industry.

One such approach is the recently announced , a new programme highlighted in the 2023 Autumn Statement, which aims to help develop a novel medicines development and access pathway for children with rare conditions. The RTLP is being co-developed by stakeholders including Genomics England, the Medicines and Healthcare products Regulatory Agency (MHRA), Oxford-Harrington Rare Disease Centre, the Â鶹Éçand Mila’s Miracle Foundation.

The pilot will initially focus on very small numbers of children with fatal and life-threatening brain conditions using individually designed antisense oligonucleotides (ASOs, – a class of compounds that can target diseases at a genetic level).

During this multi-year pilot, real-life experience and human data will help determine the barriers and opportunities. Key among these will be rethinking where oversight is needed and defining the principles of proportionate regulation, a model that may be applied more widely across conditions and treatment modalities.

The ultimate goal is to create a new sustainable and scalable pathway from early diagnosis, through treatment, monitoring and reimbursement that will then be available to all appropriate patients.

It is clear that many patients with rare conditions have high unmet medical needs and deserve the same treatment opportunities as other patients with more common conditions.

The Â鶹Éçis pleased to be supporting the ambitions of the Rare Therapies Launchpad, which offers a unique opportunity for cross stakeholder collaboration and the potential to create a new rare disease pathway to medicines access that might be replicated in other settings.

Dr Dan O'Connor
Director of Regulatory and Early Access Policy, ABPI