National Plan for Rare Diseases (PNMR, 2025-2029)

According to the definition adopted by the European Community, rare diseases are diseases with a low prevalence affecting less than one in two thousand people. These are very different conditions but are linked by the same difficulties in treatment, requiring special attention and comprehensive action to address diagnostic difficulties, the exceptional nature of clinical expression, chronicity, disabling progression and the heavy social and economic consequences associated with their treatment. Faced with this situation, patients and their families become experts in their own care over time.

Rare diseases affect 30 million Europeans. According to these European data, approximately 30,000 people in Luxembourg are affected by a rare disease. As a result, RDs are a public health issue that cannot be ignored. The political will to engage in the fight against rare diseases and to continue the activities launched under the first plan was expressed in the coalition agreement for the period 2023-2028.

The National Plan for Rare Diseases 2025-2029 (PNMR2) is a continuation of the activities of the first National Plan for Rare Diseases 2018-2023 (PNMR1). It aims to address the needs related to rare diseases that were identified during the evaluation of PNMR1. This second PNMR aims to work in collaboration with the various stakeholders involved in the field of rare diseases in order to improve the quality of life of people affected by a rare disease in Luxembourg. As such, PNMR2 aims to improve access to diagnosis and medical and psychosocial care, initiate measures to facilitate educational, extracurricular and professional development, raise awareness and provide training, digitise data and establish a national rare disease registry.

The second National Rare Diseases Plan consists of five thematic areas, each with specific objectives.

Objectives, Priorities and Measures

Priority 1: Coordination of the national plan

• Establishment of a strategy for implementing the objectives and monitoring the national plan,
• Development of a communication plan for the plan's activities,
• Strengthening of inter-institutional steering and inter-plan collaboration,
• Identification of legal obstacles to the achievement of the PNMR2 objectives,
• Active participation in ongoing European initiatives,
• Establishment of a PNMR2 evaluation system.

Priority 2: Access to diagnosis of rare diseases

• Improvement of neonatal screening programmes at the national level,
• Development of a comprehensive approach to pre-conception genetic screening at the national level,
• Improvement of the prenatal screening programme,
• Accelerating access to genetic diagnosis.

Priority 3: Healthcare pathways for rare diseases

Cross-cutting objectives

• Promoting the Medical-Psychosocial Coordination Unit for RD at national level,
• Optimising the use of resources available in Luxembourg,
• Developing a multidisciplinary approach to the management of RD at all ages.

Specific objectives

• Improving access to medicines and other innovative treatments,
• Developing care pathways for different groups of rare diseases,
• Transitioning care across different age groups,
• Improving socio-administrative care,
• Developing measures to facilitate educational, extracurricular and professional pathways.

Priority 4: Awareness-raising and training

• Defining a communication strategy around RDs,
• Sharing knowledge and expertise on RDs through dedicated training programmes.

Priority 5: Promoting innovation, digitalisation and research into rare diseases

• Promoting the digitalisation of administrative procedures in RDs,
• Creating a national register for RDs,
• Strengthening research into RDs in Luxembourg.

The PNMR2 is accompanied by a framework document that describes the situation of rare diseases in Luxembourg, as well as the challenges associated with them at both the national and international levels. The framework document provides further information on the objectives and various measures associated with the five thematic areas of the PNMR2.

The PNMR2 was launched on 18 September 2025 in the presence of Minister Martine Deprez and Director of Health Dr Jean-Claude Schmit, and its activities are spread over five years.