PROMOT: Putting Patients at the Center of Rare Disease Research
- ameliefournier4
- May 20
- 2 min read
In the ever-evolving field of rare disease research, one project is breaking new ground by focusing not just on diseases, but on the individuals living with them. PROMOT (Performing a Rare Disease-Oriented Master Observational Trial) is a cutting-edge international initiative dedicated to understanding rare neuromuscular diseases—through the lens of each unique patient.
Our new infographic provides a visual overview of PROMOT’s objectives, methods, and anticipated impact. Here's a closer look at what it represents.
🔍 Understanding PROMOT at a Glance
The PROMOT project brings together 12 research teams from six countries—Canada, Sweden, France, Spain, Ireland, and Switzerland. At its core, PROMOT is built around a Master Observational Trial, which combines multiple streams of data and expertise to study disease mechanisms in real-world conditions.
The diseases under study include:
Oculopharyngeal muscular dystrophy (OPMD)
Congenital myopathies
Congenital myasthenias
Myofibrillar myopathies
These are all rare, genetically inherited neuromuscular conditions that significantly impact muscle strength and daily life. Despite their differences, they often share overlapping features. PROMOT aims to untangle both the shared and unique aspects of these conditions.
🧩 What the Infographic Shows
The infographic captures how PROMOT’s unique framework integrates:
Medical file consultations and biological samples
Natural history studies
At-home and in-clinic assessments
Multi-layered data analysis using advanced platforms
All of these feed into PROMOT’s innovative LEAP Learning Platform, a multi-dimensional research engine combining:
A Phenotypic Platform (tracking clinical and physical characteristics)
A Patient Platform (incorporating lived experiences and feedback)
An OMICS Platform (analyzing biological data at the genomic and molecular level)
This approach ensures that every patient’s story is heard, not just their symptoms or test results. PROMOT’s structure allows researchers to identify how and why disease severity and progression vary, both within a single condition and across multiple diagnoses.
🔬 Data-Driven, Ethically Grounded, and GDPR-Compliant
At the heart of PROMOT lies a strong commitment to ethical and legally sound data practices. The project upholds compliance with GDPR and adheres to national regulations across all participating countries. Core principles include securing informed patient consent, safeguarding privacy, and ensuring the responsible use of data throughout the research process.
The ultimate goals of PROMOT include:
Identifying factors influencing disease severity and progression
Discovering common phenotypic patterns
Pinpointing novel therapeutic targets
By bridging clinical expertise, genomics, and patient perspectives, PROMOT is paving the way toward more personalized, precise, and impactful care solutions for people affected by rare neuromuscular diseases.
🌍 Looking Ahead
PROMOT is more than just a research study—it's a collaborative movement toward understanding complex diseases with empathy, innovation, and rigor. Through cross-border cooperation and patient engagement, PROMOT is setting a new standard for rare disease research.
Explore our infographic to see how we are integrating science and lived experience—because every person’s journey matters.
