5 Things About Rare Disease

Organizations and agencies marked Rare Disease Day this week. Most rare diseases do not have an approved treatment, according to the National Organization for Rare Disease (NORD). Here are 5 developments about rare disease.

1. Increased focus on outcome, measurement tools

There's been increased focus on the use of patient-reported outcomes and patient-reported outcome measures (PROMs), mostly in the oncology field. PROMs can help researchers understand how rare diseases and treatments impact quality of life and symptoms. Several health-related quality-of-life tools have been developed for rare diseases, including the phenylketonuria-specific quality-of-life questionnaire, several questionnaires related to birdshot chorioretinopathy, and the Fabry-specific pediatric health and pain questionnaire. However, for rare diseases, a number of challenges exist in using PROMs. For example, there are a limited number of PROMs validated for some target populations, especially for children and adolescents, and small samples sizes may lead to issues with sampling, data collection, and statistical analysis.

2. Tools reveal quality-of-life data

One observational study of patients with the myeloproliferative neoplasm polycythemia vera (PV) revealed the symptom burden associated with PV has a negative impact on quality of life, daily activities, and work productivity for many patients. The ongoing REVEAL study found that patients with PV experience symptoms and impairments that negatively affect their lives.

3. Payers are paying attention

Last year, Express Scripts announced a Rare Conditions Care Value program that includes the introduction of a support service known as Second Opinion, which offers guidance and expert case review for patients on an individual basis, with PinnacleCare. The service is aimed at addressing the challenges patients with rare diseases face through reducing the emotional, physical, and financial burden, including misdiagnosis and inappropriate treatments. However, a writer with the advocacy group Global Genes questioned the motivation of the pharmacy benefits manager, noting their customers are health insurance plans, and wondered whether or not the program was to help patients, or to control the rising cost of specialty drugs.

4. FDA adds additional patient perspective

As part of its acknowledgement of Rare Disease Day, the FDA said it is taking 2 actions to incorporate the voice of the patient into its programs. It will host a public meeting on April 29 called ”Patient Perspectives of the Impact of Rare Diseases: Bridging the Commonalities” in order to hear patients’ and caregivers’ perspectives on how rare diseases impact their daily lives. The FDA said it is trying to "assess commonalities to synergize product development in rare diseases." The FDA also announced it would be improving its grant review process by providing reviewers with patient perspectives.

5. Rare diseases are still being discovered

A recent paper from the New England Journal of Medicine discussed the work of the Undiagnosed Diseases Network, encompassing specialized teams working in 12 clinics across the country to diagnose people who do not have a name for their mysterious and severe conditions.¹ So far, the team has uncovered 31 syndromes that were not previously known.

Reference

1. Splinter K, Adams DR, Bacino CA, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med 2018; 379:2131-2139 doi: 10.1056/NEJMoa1714458.