As it currently stands, it can be difficult to diagnose a rare disease. Many patients require multiple specialist visits over years (the average rare disease diagnosis takes 4-5 years, with some taking more than a decade), which can be overwhelming, time-consuming, and upsetting. With the onset of new technology, however, exists the potential to develop more straightforward, effective, and timely diagnostic tools. An article in News Medical by Dr. Priyom Bose, PhD, discusses the use of artificial intelligence (AI) in diagnosing rare conditions like Pompe disease.
In original research published in Frontiers in Neurology, the authors discuss the development and testing of a methodological framework using AI for Pompe disease diagnosis. To begin, the research team used Symptoma’s Artificial Intelligence-based approach to retrospectively screen 350,116 anonymized electronic health records (EHRs). The AI then “flagged” the EHRs of individuals that could potentially have Pompe disease. This was based on specific symptoms or evidence within the EHRs. The AI flagged 0.029% of EHRs for a total of 104 people. According to the study findings:
Generalist physicians found five “diagnosed,” 10 “suspected,” and seven patients with “reduced suspicion.” After feedback from Pompe disease specialist physicians, 19 patients remained clinically plausible for Pompe disease, resulting in a specificity of 18.27% for the AI.
Unlike the current diagnostic process, the AI approach took less than one month. While more research is needed into the use of AI in this field, it does suggest potential improvements for a broad spectrum of rare diseases in the future.
About Pompe Disease
GAA gene mutations cause Pompe disease, a rare multisystemic genetic disorder. In Pompe disease, a complex sugar called glycogen begins to build up in cells. The gene mutations prevent the body from processing or clearing glycogen. So this sugar accumulates to toxic levels and causes a number of health impacts.
When symptoms appear within months of birth, a child is considered to have infantile-onset Pompe disease. Without treatment, this form can be fatal within two years. Children may experience:
- Hypotonia (low/reduced muscle tone)
- An enlarged liver
- Difficulty feeding and swallowing
- Developmental delays
- Hearing loss
- Muscle weakness
- Hypertrophic cardiomyopathy
- Difficulty breathing
Non-classic infantile-onset Pompe disease sees symptom manifestation within the first year of life. While these children may have progressive muscle weakness, scoliosis, drooping of the upper eyelids, and slowed motor development, they are less likely to have heart failure than children with the classic form. The late-onset form is also less likely to involve the heart. Some people may use late-onset to describe either the adult-onset form of the non-classic infantile-onset form; in these cases, “late-onset” refers to whether or not the heart is affected.
The FDA approved Myozyme, an enzyme replacement therapy (ERT) for Pompe disease. It does not cure the disease but can significantly improve outcomes.
