Disparities in Foundation and Federal Support and Development of New Therapeutics for Sickle Cell Disease and Cystic Fibrosis

Abstract

BACKGROUND: Sickle cell disease (SCD) and cystic fibrosis (CF) are rare inherited disorders of similar severity. Disparities in funding between these two diseases have been long recognized and likely contribute to limited access to care and treatments for sickle cell disease. Private investment in therapeutics for these and other orphan diseases has greatly increased in the past ten years. We hypothesized that these increased private expenditures may help correct disparities in research publications, clinical trials, and FDA approval of new therapies. METHODS: We compared funding and research output for SCD and CF between 2008-2012 versus 2013-2017. We estimated disease-specific funding using NIH Research Portfolio Online Reporting Tools and the Form 990 financial reports for foundation expenditures of multiple organizations dedicated to each disease from 2008-2016. We developed a comprehensive search strategy to identify relevant publications in PubMed and new postings of US based interventional clinical trials by disease. In addition, we reviewed FDA drug approvals and new indications for each disease from 2008-2017. RESULTS: Average annual NIH funding per affected individual was 3.4-fold greater for CF than SCD from 2008 to 2016. Between 2008-2012, private foundation funding was 161-fold greater for CF than SCD. Between 2013-2016, private funding was 971-fold greater for CF than SCD. There were 1.8 times as many PubMed publications for CF compared to SSD. There was no significant difference in PubMed publications between the two time periods. There was a significant increase in interventional clinical trials for SCD between 2013-2017, with the largest increase coming from university/philanthropic funded trials. However, CF has significantly increased FDA drug approvals of both novel compounds and novel indications. CONCLUSIONS: Although the US prevalence of SCD is three times greater than CF, the amount of federal and private foundation research funding is magnitudes greater for CF. Foundation funding for CF benefited significantly from revenue based on the successful development of targeted therapies. However, despite the significant funding difference, the number of clinical trials for SSD are comparable to CF and have increased over the past few years. Research productivity as measured by articles indexed in PubMed, and new drug approvals remain substantially higher for cystic fibrosis despite greatly increased industry investment in orphan diseases. Disclosures Strouse: Global Blood Therapeutics: Consultancy.

Ethical Machine Learning in Healthcare

“…For example, sickle cell disease and cystic fibrosis are both genetic disorders of similar severity, but sickle cell disease is more common in Black patients, while cystic fibrosis is more common in white patients. In the United States, however, cystic fibrosis receives 3.4 times more funding per affected individual from the US National Institutes of Health (NIH), the largest funder of US clinical research, and hundreds of times more private funding (37). The disparities in funding persist despite the 1972 Sickle Cell Anemia Control Act, which recognizes that sickle cell has been neglected by the wider research community.…”

Structural racism in precision medicine: leaving no one behind

“…In this respect, another important aspect, in terms of minority groups' access to adequate healthcare, may be the lack of interest in developing new therapeutic options for diseases more prevalent in minority groups, due to structural racism embedded in the world of research and in drug development. From our perspective, Farooq and Strouse [68] gave an excellent example of potential racial bias in research and drug development by comparing two distinct diseases, each one predominantly affecting a different racial group.…”

“…stroke) [70]. Although both conditions have similar disease severity, and a lower percentage of patients in the United States suffers from cystic fibrosis in comparison to SCD, Farooq and Strouse [68] demonstrated that there are wide disparities in how funding was allocated for research by the National Institutes of Health (NIH) and private Foundations to study the two diseases. Moreover, research productivity in terms of PubMed-indexed articles and drug approvals were significantly higher for cystic fibrosis than for SCD, in spite that both diseases have similar numbers of clinical trials [68].…”

Healthsheet: Development of a Transparency Artifact for Health Datasets

“…For example, Sickle Cell disease impacts mainly the Black population while cystic fibrosis impacts mainly the white population. Cystic fibrosis receives significantly more funding and research resources, despite both being genetic disorders of similar severity [14,19,48].…”