Debate on funding for the prevention of fibrodysplasia ossificans progressiva

Overview of Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, genetic condition whereby soft connective tissues in the body, such as tendons and ligaments, are gradually replaced by new bone (they are 'ossified'). It is caused by a fault (mutation) in the ACVR1 gene. The condition means that bone develops outside of the skeleton. If this occurs near joints, it can restrict the person's movement and, over time, will cause a progressive loss of mobility. The Genetic and Rare Disease Information Center in the United States reports that the process generally becomes "noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs". Fusion of the affected joints may also occur.

FOP occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP, with approximately 70 cases in the UK.

Information about FOP, its symptoms, Government policy on rare diseases and funding research into rare diseases can be found in the Commons Library debate pack on E-petition on research into Fibrodysplasia Ossificans Progressiva (November 2021).

Other sources of information on FOP include:

• Fibrodysplasia Ossificans Progressiva (FOP) - Overview | Muscular Dystrophy UK
• What is FOP? - FOP Friends
• Fibrodysplasia Ossificans Progressiva - Symptoms, Causes, Treatment | National Organization for Rare Disorders (NORD), United States
• Fibrodysplasia ossificans progressiva: MedlinePlus Genetics, National Library of Medicine, United States
• What is FOP? - IFOPA - International Fibrodysplasia Ossificans Progressiva Association

Background to the debate

There are no known treatments for FOP but clinical trials are underway.

One such trial is 'STOPFOP' (Saracatinib Trial tO Prevent FOP). It involves scientists at the University of Oxford, as well as in the Netherlands, Germany and elsewhere, and is supported by funding from the EU’s Innovative Medicines Initiative (IMI – which received half of its budget from Horizon 2020, the EU’s framework programme for research and innovation, which ran from 2014-2020). Saracatinib (also called AZD0530) is an experimental drug developed by the pharmaceutical company AstraZeneca. It has previously been trialled as a treatment for certain cancers, but it is being repurposed in the STOPFOP trial to see if it reduces the formation of new bone.

Clinical trials are split into different stages with the number of people taking part increasing as the trial stage progresses. More information is provided on the phases of clinical trials by Cancer Research UK and by the NHS on its Clinical trials webpage.

When making representations to the Backbench Business Committee in May 2023, Sir Mike Penning MP highlighted the STOPFOP clinical trial, noting that the researchers were looking for additional funding to complete the trial. He stated that, to date, funding had "not materialised", adding that the UK being "outside Horizon" was also proving problematic. (Sir Mike Penning also wrote about the matter in The House Magazine in July 2023).

"Horizon" is Horizon Europe, the EU’s flagship framework programme for research and innovation funding, running from 2021-2027. Following the UK's exit from the EU, it has agreed to participate in Horizon Europe as an 'associated country' and will pay a yearly fee for this purpose. The UK's association, however, has yet to be finalised; the delays were linked to broader disagreements about the Northern Ireland Protocol, though progress may follow from the formal adoption of the Windsor Framework on 24 March 2023.

Under current Horizon Europe rules, UK applicants are eligible to apply to the programme. If the project application is successful, and the UK has not associated to Horizon Europe by the time a consortium is due to sign the grant agreement, they can apply to UK Research and Innovation’s (UKRI) 'Horizon Europe guaranteed funding scheme'. This provides a "financial safety net" to successful UK Horizon Europe applicants who are "unable to sign grant agreements with the EU prior to formalisation of the UK's association to the programme".

Further details about UK research funding, and particularly accessing EU research funding, are set out in the Library briefing on Research and Development funding policy (April 2023). Should association to Horizon Europe not prove possible, the Government has set out alternative plans to support UK research in its Pioneer: global science for global good prospectus (April 2023).

Neither Horizon Europe, nor its predecessor, Horizon 2020, award extra funding to an existing project that they have already funded; to secure more funding, researchers would have to apply for new funding through a follow-on project. Non-EU funding for research is available; the Research Office at Imperial College, London provides an overview of the types of research funding (both commercial and non-commercial) on offer for UK-based researchers.

Parliamentary material

Fibrodysplasia Ossificans Progressiva | 18 May 2023 | Written Questions | Answered | House of Commons | 184859

Fibrodysplasia Ossificans Progressiva: Research | 18 May 2023 | Written Questions | Answered | House of Commons | 184756

Fibrodysplasia Ossificans Progressiva: Research | 16 May 2023 | Written Questions | Answered | House of Commons | 184531

Fibrodysplasia Ossificans Progressiva: Research | 6 January 2022 | Written Questions | Answered | House of Commons | 96951

Fibrodysplasia Ossificans Progressiva | HC Deb 6 December 2021 | Vol 705 c1WH-