Behind the Scoping Reviews: What We Learned from Studying CMS and CM
- ameliefournier4
- Aug 6
- 3 min read
In rare disease research, success depends on starting with the right questions—and the right data. That’s why one of the PROMOT Project’s first steps was to conduct two comprehensive scoping reviews, focused on Congenital Myasthenic Syndromes (CMS) and Congenital Myopathies (CM).
These early research activities were designed to map out the most relevant signs and symptoms of each condition and guide the development of a standardized, interoperable data model that reflects real-world clinical realities.
Here’s a closer look at what we learned—and how these insights are shaping the road ahead.
Why Scoping Reviews?
Scoping reviews are a powerful research tool used to explore the breadth and depth of existing literature on a given topic. Unlike systematic reviews, which aim to answer narrowly defined clinical questions, scoping reviews are ideal for identifying patterns, gaps, and variability across studies.
For PROMOT, the goals were clear:
Identify the most commonly reported clinical features in CMS and CM
Assess how these features are described and categorized in the literature
Inform the development of a clinical concept list that would serve as the foundation for PROMOT’s Common Data Model (CDM)
Key Findings
Congenital Myasthenic Syndromes (CMS)
CMS refers to a group of inherited neuromuscular disorders that impair the transmission of signals at the neuromuscular junction. Our scoping review of CMS literature revealed several consistent patterns:
Commonly Reported Signs & Symptoms:
Muscle weakness (especially in limb-girdle and facial muscles)
Ptosis and ophthalmoplegia
Delayed motor milestones (e.g., walking)
Respiratory complications
Bulbar dysfunction (e.g., difficulty swallowing or speaking)
Challenges Identified:
Terminological inconsistency—similar symptoms were described in varying ways
Underreporting of patient-reported outcomes or functional impact
These findings highlighted the need for a shared clinical vocabulary and better alignment with patient experiences across the lifespan.
Congenital Myopathies (CM)
CM encompasses a group of genetic muscle disorders typically present from birth or early childhood. The literature review for CM revealed:
Frequent Clinical Features:
Generalized limb muscle weakness and hypotonia
Facial weakness and high-arched palate
Delayed motor milestones
Respiratory insufficiency
Skeletal abnormalities (e.g., scoliosis, joint contractures)
Insights and Gaps:
Strong overlap in early clinical features across CM subtypes
Sparse data on quality of life or psychosocial dimensions
As with CMS, the diversity of terms and clinical emphasis across studies underscored the value of a standardized model for research and care planning.
From Literature to Action: How PROMOT Is Using These Insights
The results of both scoping reviews have already been put to work. Based on the findings:
We developed a preliminary clinical concept list for each disease group.
We conducted expert validation surveys with clinicians across Europe and Canada specializing in CMS, CM, and OPMD.
We began mapping these concepts to international ontologies like the Human Phenotype Ontology (HPO), Orphanet and the International Classification of Functioning, Disability and Health (ICF), ensuring alignment with broader rare disease research standards.
We integrated these validated, standardized concepts into the first version of PROMOT’s Common Data Model—a crucial tool for future studies and the LEAP FORWARD platform.
Next, we will be validating these clinical signs and symptoms with patients to ensure their lived experience is reflected in the model.
This process ensures that the data PROMOT collects and analyzes is not only accurate and comprehensive, but comparable across borders, diseases, and time – and grounded in the real-world experiences of both clinicians and patients.
Why This Work Matters
The scoping reviews provided far more than a literature summary—they built a bridge between scattered scientific knowledge and a unified, patient-informed data framework. By taking the time to understand how CMS and CM are documented in the literature, and validating those findings with expert input, PROMOT is laying the foundation for more reliable research, better trial design, and ultimately, improved care pathways.
This approach is especially important in rare diseases, where data is limited and collaboration is key.
What’s Next
As PROMOT enters its second year, this strong research foundation will support:
Real-world data collection through pilot studies
Further refinement of the LEAP FORWARD learning platform
Engagement with patients and clinicians to improve ongoing relevance
Alignment with other international rare disease efforts through interoperability and open standards
Want to learn more about PROMOT’s research or contribute your expertise?
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