Research for the treatment and cure of Duchenne muscular dystrophy

Subject: Research for the treatment and cure of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that becomes apparent during early childhood. By early adolescence, it causes severe symptoms such as rapidly progressive muscle weakness and muscular atrophy.

DMD affects around one in 3 500 newborn boys. It is therefore classed as a ‘rare’ disease – despite the fact that the European Medicines Agency (EMA) estimates that approximately 26 000 people suffer from the condition in Europe. At present, DMD has no cure. Medicines to alleviate symptoms are rare or scarcely available to those affected.

1. What research projects is the Commission currently supporting to advance research into the condition, improve its treatment and to find a cure?

2. Are there currently any specific research projects or calls under the current or future Horizon Europe programme focusing on this condition?

3. Are there currently any promising medicines for the treatment of DMD which have been given the ‘orphan designation’ and receive scientific and regulatory support from the EMA so that they can be sufficiently developed for an application to be submitted for their approval?

Submitted:28.2.2024

Answer given by Ms Ivanova on behalf of the European Commission

(25 April 2024)

The EU has been supporting research and innovation (R&I) on rare diseases for more than two decade s (1), by making already available more than EUR 4.4 billion to single and multi-partner projects, through the European framework programmes for R&I.

Although the Commission cannot set a separate research focus for each of the estimated 6 000 rare diseases, there are several EU projects that implement research on rare neuromuscular diseases (NMDs), including the Duchenne muscular dystrophy (DMD).

Those projects aim at understanding DMD pathophysiology and/or developing new therapies and improving diagnosis. For example, the VISION-DMD (2) project conducted a Phase II clinical trial for a new therapy that recently received EU approval (3).

Several research projects on DMD are currently underway as part of Horizon Europe, the current EU R&I programme (2021- 27) (4). They are engaged in developing gene therapies (5), drug repurposing (6), using artificial intelligence tools to advance rare NMDs diagnosis (7) and developing patient-reported outcomes (8).

Moreover, the Commission is committed to working with public research funders in the EU (9) and beyond, such as in the European Joint Programme for Rare Diseases (10) that catalyses the rapid translation of research results into clinical applications.

Under Horizon Europe, a new co-funded European partnership (11) is due to be launched by the end of 2024, aiming to improve the health of people living with rare diseases through better prevention, diagnosis and treatments and an effective R&I ecosystem.

1 ∙ ⸱ EU-Factsheet (Edition Feb. 2024), https://op.europa.eu/en/publication-detail/-/publication/3791ed8f-d780-11ee-b9d9-01aa75ed71a1/language-en/format-

PDF/source-307956431 2 ∙ ⸱

Horizon 2020 Project: VISION-DMD — Phase 2 Clinical Trials of VBP15: An Innovative Steroid-like Intervention on Duchenne Muscular Dystrophy, https://cordis.europa.eu/project/id/667078 3 ∙ ⸱

https://www.ema.europa.eu/en/medicines/human/EPAR/agamree 4 ∙ ⸱

https://research-and-innovation.ec.europa.eu/funding/funding-opportunities/funding-programmes-and-open-calls/horizon-europe_en 5 ∙ ⸱ Next-generation models and genetic therapies for rare neuromuscular diseases (MAGIC), https://cordis.europa.eu/project/id/101080690 6 ∙ ⸱ Drug REpurposing with Artificial intelligence for Muscular disorderS (DREAMS), https://dreamshorizon.eu/project/ 7 ∙ ⸱ Computational Models for new Patients Stratification Strategies of Neuromuscular Disorders (CoMPaSS-NMD), https://cordis.europa.eu/project/id/101080874 8 ∙ ⸱

Patient Lifestyle and Disease Data Interactium (PaLaDIn), https://www.project-paladin.eu/ 9 ∙ ⸱ https://cordis.europa.eu/project/id/36248 10 ∙ ⸱

https://www.ejprarediseases.org/what-is-ejprd/project-structure/ 11 ∙ ⸱

https://www.ejprarediseases.org/erdera/, EU funding up to EUR 150 million.






















| | )Regarding the DMD therapies under development in the EU, the European Medicines Agency has so far issued 62 scientific opinions on 29 different products and 32 products designated as orphan designated medicines.