Inside the Common Data Model: What It Is and Why It Matters for Rare Neuromuscular Diseases
- ameliefournier4
- Sep 22
- 3 min read
In rare disease research, data is everything. Yet, one of the biggest obstacles researchers face isn’t just the rarity of the conditions themselves—but the rarity of structured, shareable, and consistent data. That’s why the PROMOT Project is building a Common Data Model (CDM): a foundational tool that brings clarity and compatibility to how data is collected, shared, and interpreted across institutions and borders.
As we work to transform the landscape of rare neuromuscular disease research, this blog takes you inside the PROMOT CDM—what it is, why it matters, and how it’s helping us build a better, smarter research future.
🧩 What Is a Common Data Model?
At its core, a Common Data Model is a standardized framework for organizing and defining data. Think of it like a universal blueprint that ensures everyone is speaking the same “data language”—whether they're a clinician entering symptoms into a registry, a researcher running an AI model, or a patient organization gathering community insights.
In practical terms, a CDM ensures that a concept like “muscle weakness” is consistently named, coded, and understood across datasets, regardless of where the data comes from.
This shared structure enables interoperability (systems can talk to each other), data harmonization (standardization across studies), and ultimately, more powerful and inclusive research.
🔬 Why Rare Disease Research Needs a CDM
Rare diseases—by definition—impact small, often scattered populations. While this makes each case invaluable, it also creates a fragmented research environment. Some of the biggest challenges include:
Small sample sizes at individual centers: With only a handful of patients per site, it’s difficult to generate results with real statistical power.
Inconsistent data collection: Each center may use its own methods, making it hard to align or compare findings.
Variable terminology: Clinicians – especially those less familiar with rare conditions – may describe symptoms in different ways. For example, one might write “fatigue”, while another records “reduced stamina”.
Limited cross-border collaboration: Without harmonized standards, combining datasets internationally becomes a challenge.
Without standardization, data from one study might not be usable in another. This slows down progress, increases costs, and limits opportunities for patients to benefit from new discoveries.
PROMOT’s CDM addresses these issues head-on. It creates a unified framework that connects clinicians, researchers, and patients through a shared structure—unlocking new possibilities for collaboration, big-data analysis, and precision medicine.
🛠️ How PROMOT Is Building Its Common Data Model
Over the past year, PROMOT has taken a systematic, evidence-based approach to building its CDM. Key activities include:
Scoping Reviews We conducted two comprehensive literature reviews—one for Congenital Myasthenic Syndromes (CMS) and one for Congenital Myopathies (CM). These reviews identified the most frequent and clinically relevant signs and symptoms associated with each condition.
Expert Validation We consulted expert clinicians in CMS, CM, and Oculopharyngeal Muscular Dystrophy (OPMD) from multiple countries through tailored surveys. Their input ensured that the clinical concepts selected were relevant, complete, and applicable in real-world settings.
Ontology & Classification Mapping Each validated concept is now being linked to established medical ontologies or health domain classifications such as the Human Phenotype Ontology (HPO) and the World Health Organization’s International Classification of Functioning, Disability and Health (ICF). This process gives structure to the data, making it readable by both humans and machines.
Data Model Compilation We are nearing completion of the first version of PROMOT’s CDM—a model integrating entities such as medical concepts, disease names, and patient characteristics, along with their attributes, metadata, and relationships, establishing the backbone of future studies and platforms.
This model will serve as a foundation for our LEAP FORWARD platform and enable data to be integrated, analyzed, and shared more effectively across the PROMOT network and beyond.
🚀 Looking Ahead: What the CDM Will Power
PROMOT’s CDM isn’t just a behind-the-scenes tool—it will shape how we conduct research moving forward. Here’s how:
Informing the LEAP FORWARD Platform: The CDM will structure how patient data is collected, stored, and visualized across PROMOT's digital tools.
Enabling Real-World Evidence Studies: It will support our Master Observational Trial (MOT) approach, allowing PROMOT to design large-scale, longitudinal studies with consistent data inputs.
Accelerating Diagnosis and Personalized Care: A structured dataset allows us to build more accurate algorithms and clinical decision tools tailored to rare diseases.
Supporting Cross-Border Collaboration: By using internationally recognized ontologies, PROMOT’s CDM allows our European and Canadian partners to work from the same playbook.
Why This Matters
PROMOT’s Common Data Model is more than a technical tool—it’s a strategic foundation for meaningful, inclusive, and scalable rare disease research. By ensuring that data is comparable, compatible, and clinically meaningful, we are paving the way for smarter research, faster insights, and ultimately, better care for people living with rare diseases.
Want to know when the CDM launches? Curious about collaborating or contributing to its evolution?
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Together, we’re building a data future that works for everyone.
