ALS/MND phenotype

General
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This sometimes parallels the work we have worked on for Parkinson’s disease:

Still work in progress (and we just setup a new local Atlas instance to characterize phenotypes for PD before we elevate back to OHDSI at large for publishing our phenotypes and collaborating)

Parkinson’s disease, like ALS, is a distinct (though increasingly heterogenous by basic science/precision medicine work) clinical entity of great interest for researchers (interventional trials and quality outcomes research) that is relatively straightforward to recognize once established. Parkinson’s disease is a specific type of “parkinsonism” just as ALS is a form of MND. The challenge in both conditions is that

  1. there is a long subtle early phase where there is debate as to when “PD” is considered prodromal vs early – and when one wants to count it for a given use case (recruitment for early studies vs epidemiology of incidence)
  2. there is a late phase where the neurodegenerative process becomes clearly an atypical Parkinsonism (i.e. atypical MND when early presentation is ALS). In the case of atypical Parkinsonism, there are clear syndromes that are not Parkinson’s disease. Not sure how often this occurs in the MND space.

The way we have approached this is two fold:

  1. there is a clear epidemiological incidence/prevalence assessment indication. This is where the current work with CDC and state PD registries is going - for this we advocate for a broad definition that allows for poorer specificity but higher sensitivity. This is “easier” to do as we don’t need to worry as much for all the criteria to assure specificity, but will require some strategies for determining just what that tradeoff is.
  2. Within the broad registry of #1, we want to establish the cohort of specific probable PD (in between the too early and confounded late types) - maybe like your ALS cohort – presumably for ensuring they are seeing neurologists, assessing quality of care, enrolling in interventional trials. This is where our P8 work has been and are still selecting the various phenotypes to the satisfaction of most OMOP-CDM datasets and tradeoffs.

Happy to chat about how to configure your use cases and clinical characterization as a neurologist who has become very interested in OMOP-CDM tools.

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