The first step in treating rare diseases is accurately diagnosing them. Unfortunately far too many people go years without knowing what is going wrong in their body. Doctors are trained not to make their first guess a rare disease diagnosis, as statistically more common ailments are likely the cause of a patients discomfort. However, this means those who do have rare conditions often don’t receive the care they need until much later down the line. We’ve made progress in the rate of diagnosis in recent years thanks to improved newborn screening. However success has been compartmentalized- improving for some diseases and remaining stagnant for others.

One of the diseases whose diagnostics have been much improved is Niemann-Pick disease type C (NP-C). Realizing this, researchers set about to translate this success for other rare conditions. Specifically, for ultra-rare inborn errors of metabolism, also known as IEMs.

Importance of Early Diagnosis

Ultimately, earlier diagnosis leads to earlier treatment which leads to better outcomes. Some of the latest novel discoveries have been disease-modifying therapies for ultra-rare IEMs such as Niemann-Pick disease (A, B, and C), Fabry disease, Gaucher disease, and phenylketonuria. Some of these treatments have been extremely efficacious, changing the course of the disease, and ergo improving patient outcomes and quality of life. However, these success stories are normally only possible when the treatment begins early on in the disease course.

“Early and prompt initiation of treatment is usually required to minimize or prevent irreversible pathology.”

It’s not enough to come up with effective treatments; we also have to make sure the right patients receive them at the right time. It’s an essential step in improving patient care.

Screening in Niemann-Pick Disease

Researchers decided to conduct a comprehensive review of NP-C screening studies in order to evaluate the diagnostic methods, successes, and failures in this disease. In total, they studied 26 different published studies. These included newborn screening, medical chart review/bioinformatics data mining, biobank materials, and patient cohort/family-based secondary screenings. By using this evaluation as a base, they hoped to improve how we diagnose not only this condition but other rare diseases as well. After this analysis, the research team established a set of recommendations for all rare disease screenings. 

Ultimately, this research team established that a combination of genetic, biomarker, and clinical diagnostic methods is the most effective way to determine the presence of NP-C. They believe this method of screening could reduce the likelihood of misdiagnosis for not only NP-C, but all rare diseases, and therefore should be the primary method of diagnosis.