Rare diseases in Luxembourg: a new five-year plan and hope for thousands of patients

On 18 September 2025, the second National Plan for Rare Diseases (PNMR2) for 2025-2029 was officially launched in Luxembourg. The event was the result of the work of a wide range of experts and was attended by key institutions: ALAN - Maladies Rares Luxembourg, the National Health Laboratory and the ERN-hub (European Reference Network) at the Centre hospitalier de Luxembourg.

It is estimated that there are about 30,000 people living with rare diseases in the country, with 94% of such diseases remaining untreatable. For patients and their families, this means long years of searching for the right diagnosis, insufficient access to specialised treatments and a serious psychological burden. Minister of Health and Social Protection Martine Deprez emphasised: "Rare diseases, due to the lack of scientific evidence, pose challenges for the health system. They have a negative impact on the social and professional life of patients. Our aim is to improve quality of life and comprehensive support".

The first plan (2018-2023) has already yielded tangible results. A national hotline for rare diseases, psychological support counselling through ALAN, expanded neonatal screening (including for spinal muscular atrophy and severe congenital heart disease), and a national coordination hub for interaction with European networks have been launched.

PNMR2 continues these efforts with several priorities. First of all, speeding up diagnosis: expanding early detection programmes and introducing comprehensive pre-conception genetic testing. An important step will be to improve the patient route: a multidisciplinary approach and the work of a specialised coordination cell combining medical, psychological and social care. In addition, the plan envisages awareness raising and training of doctors, which should reduce the so-called "diagnostic odyssey".

Special emphasis is placed on digitalisation and innovation. The plan envisages strengthening research in the field of rare diseases, digital transformation of administration and creation of a national register of rare diseases. This tool will help to get a holistic picture of the situation in the country and build a synchronised policy with other EU countries.

Of particular importance is the official recognition of the National Alliance for Rare Diseases, which opens the way for the exchange of experience and integration into pan-European initiatives. For a small country, this is not just a symbolic gesture, but an opportunity to strengthen its role in international co-operation.