Current Edition

Neglected rare disease patients offered hope in new plan

Unmet need among over 7000 rare diseases is being addressed in a comprehensive action plan

The publication of England’s Action Plan for Rare Diseases offers hope for patients with the rarest conditions –an area with considerable unmet need.

The plan contains commitments for these patients, aiming to ensure those living with rare diseases receive a faster diagnosis, better care and prompt access to treatments.

Cumulatively, rare diseases are not so rare: around 3.5 million people in the UK are estimated to be affected by more than 7,000 rare diseases. It is estimated that 95% of rare diseases do not have an approved treatment.

People living with these conditions face challenges in many forms, from the first hurdle of receiving diagnosis and accessing NHS services, to receiving the appropriate, or indeed any, treatment option. Many patients face what is termed a ‘diagnostic odyssey’ – seeking an appropriate diagnosis for many years.

In spite of these hurdles, there is significant progress being made in the treatment of rare diseases – nearly 40% of medicines now in development are for rare, or very rare, conditions. This percentage includes many cell and gene therapies, which are personalised to individual patients.

The plan outlines four key priorities which include helping patients receive a diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better coordination of care and improving access to specialist care, treatment and drugs.

The plan pledges new research, which includes £40m of funding for the National Institute for Health Research (NIHR) BioResource, supporting its work researching and understanding rare diseases.

“Today’s action plan for England contains welcome commitments to ensure that people with rare diseases get the fast diagnosis, better care and timely access to treatments they desperately need,” ABPI’s director of value and access policy, Paul Catchpole said. “Without that timely diagnosis, people can miss the window of opportunity for receiving available treatments.

“Nearly 40% of the medicines now in development are for rare or very rare conditions, including many cell and gene therapies, so we very much welcome the commitments to help people get rapid access to them. We would urge all action plan delivery partners to work together, with industry, to make these plans a reality,” Catchpole added.