2nd National Plan for Rare Diseases Aims to Improve Quality of Life, Care Services

On Monday 22 September 2025, Luxembourg’s Ministry of Health and Social Security reported on the launch of the country’s second National Plan for Rare Diseases: 2025–2029 (PNMR2).

The official launch of the plan took place on Thursday 18 September 2025 and was attended by non-profit organisation ALAN – Maladies Rares Luxembourg, the National Health Laboratory (LNS), the European Reference Network (ERN) Hub of the Centre Hospitalier de Luxembourg (CHL) as well as a variety of national experts and representatives of the ministries engaged in the plan.

According to the Ministry of Health and Social Security, it is estimated that 30,000 people in Luxembourg are affected by a rare disease, with 94% of rare diseases having no curative treatment. The ministry noted this created challenges for those affected and their families, including diagnosis, insufficient access to appropriate treatments, along with the absence of certain treatments, and significant psycho-social care needs.

“Rare diseases, due to the limited scientific knowledge available, therefore present a real challenge for our healthcare services and health policy,” emphasised Martine Deprez, Minister of Health and Social Security. “For the individuals affected, these diseases have a negative impact on their social and professional lives. Our aim is therefore to improve their quality of life, as well as enhance their medical and psycho-social care,” she added.

The first Luxembourg National Plan for Rare Diseases (PNMR1), which was implemented between 2018 and 2023, has already enabled the creation of new services, the establishment by ALAN of a dedicated psycho-social consultation, the implementation of new national projects such as the “National Rare Diseases Coordination Hub” to integrate European reference networks, the first “Rare Diseases Infoline,” as well as the expansion of neonatal screening to include spinal muscular atrophy and severe congenital heart diseases.

The ministry noted that PNMR2 built on these actions and addressed essential topics to combat the diagnostic problems and improve the quality of life for those affected by a rare disease.

The main themes targeted by PNMR2 are:

• access to rare disease diagnosis, by expanding national screening and early detection programmes, developing a comprehensive approach for preconception genetic screening and accelerating access to genetic testing at all ages;

• improvement of the healthcare pathway for rare diseases, through the promotion of the Rare Diseases Medical and Psycho-Social Coordination Unit and the development of a multidisciplinary approach to the management of rare diseases;

• awareness and training, to encourage the sharing of knowledge and expertise;

• promotion of innovation, digitalisation and research in rare diseases, to strengthen research in Luxembourg and facilitate the digitalisation of administrative procedures;

• establishment of a national rare diseases registry, as a strategic tool necessary to obtain a comprehensive overview of the situation in Luxembourg and align with other European countries.

The ministry added that the official recognition of the National Alliance for Rare Diseases in Luxembourg strengthens Luxembourg’s position on the European stage and allowed Luxembourg to align with European initiatives for rare disease management and share expertise and information on policies at national and international levels.