Rare diseases are anything but rare when you look at the collective impact. While individual conditions are uncommon, around 350 million people worldwide are affected by a rare disease. Within this massive group are Neuromuscular Diseases (NMDs). Collectively, NMDs affect about half a million individuals—a population roughly the size of a country like Poland. This huge number of people face a shared, enormous challenge: finding a timely, precise diagnosis and effective treatment.
The Challenge: A Crisis of Complexity
The path to resolving unmet needs for NMD patients is fraught with limitations. We may know a lot about the genetics—with over 600 causative genes identified—but the clinical picture, or phenotype (how the disease presents in the patient), is often poorly understood.
This is the core problem:
- Overlapping Symptoms: The symptoms of different NMDs often look alike, a phenomenon called heterogeneity, making precise diagnosis difficult.
- The Undiagnosed: Despite advanced genetic screening, up to 40% of patients still lack a certain diagnosis.
This lack of precise phenotyping—knowing exactly which symptoms belong to which genetic cause—is a major bottleneck for research and drug development. Furthermore, reaching a diagnosis is crucial for quality of life, as about 30% of NMD patients are dependent on others, wheelchairs, and caregivers, leading to extremely high assistance costs for families and society.
The Power of a Precise Diagnosis
For the patient, a final diagnosis means more than just a name for their condition. It is the prerequisite for:
- Precise Care: A more precise follow-up and tailored care within a multidisciplinary setting.
- Reduced Costs and Anxiety: Mitigating stress and anxiety for the family, and reducing the need for unnecessary tests and interventions, which ultimately lowers costs for everyone involved.
Diagnosis often involves multiple steps: from laboratory tests like measuring CK levels, to neurophysiology and muscle MRI, all leading up to targeted genetic testing (single gene, panels, whole exome, or whole genome). Once the underlying cause is confirmed, clinicians can adopt the right prevention, care, and necessary palliative treatments.
Compass-NMD: Making Order from Chaotic Datasets
The Compass-NMD project is tackling the most fundamental question: How can we improve the diagnostic journey for every NMD patient?
Our strategy is to combine expertise from leading European centers and pool together data from multiple modalities (clinical, genetic, imaging) into a single, comprehensive repository called the ATLAS.
This repository is designed to enable the use of Machine Learning (ML) and Artificial Intelligence (AI) strategies. Our goal is to leverage these technologies to literally “make order in chaotic datasets”—finding patterns and connections that the human eye cannot. We believe this pioneering approach will serve as a paradigm for other equally complex rare diseases.
Our vision is clear: Having “one diagnosis for all” today is the essential prerequisite for achieving “one patient, one drug” tomorrow.
