Rare Disease Day on Saturday, February 29, is intended to raise awareness of the thousands of rare diseases and the millions of people who live with them around the world. There are more than 100 rare kidney diseases, most of them without US Food and Drug Administration (FDA) approved therapies. Because of the lack of innovation in novel therapies to treat rare kidney diseases, many people who live with them face the prospect of progressing to kidney failure and enduring dialysis or waiting for a kidney transplant.

The 1983 Orphan Drug Act changed the landscape for drug development in rare diseases. It established tax credits, marketing exclusivity, and other incentives to spur drug development in rare diseases. The FDA’s Office of Orphan Product Development administers a variety of programs, including the Orphan Drug Designation program, to implement the law. Since the Orphan Drug Act was passed, more than 700 drugs have been approved by the FDA for rare diseases, yet too few are for rare kidney diseases. 

The Kidney Health Initiative (KHI), a public-private partnership between the FDA and the American Society of Nephrology, recognized that a barrier to innovation in novel therapies, including rare kidney diseases, was a deficit of end points for clinical trials. Developing end points where none may exist is an extra burden for clinical trial sponsors and provided an opportunity for KHI to catalyze innovation.

Since 2012, KHI has initiated or completed four projects related to clinical trial end points for rare kidney diseases. In 2018, KHI published a paper describing surrogate end points for lupus nephritis and in 2019, completed a project recommending proteinuria reduction as a surrogate end point for IgA nephropathy . Currently KHI is concluding projects on hyperoxaluria and focal segmental glomerulonephritis (FSGS) end points.

These projects help facilitate discussions between sponsors and the FDA about clinical trial design and demonstrate to the pharmaceutical industry that successful trials are possible. Surrogate end points are more feasible to study, are often better suited for smaller rare disease populations, and have the potential to accelerate delivery of new therapies.

This is a new and exciting time for drug development for rare kidney diseases. Thanks to KHI and the kidney community’s efforts, pharmaceutical companies now see rare kidney diseases as worthy of investment. Thirty-one pharmaceutical companies are members of KHI and half of them are currently conducting clinical trials in rare kidney diseases. The National Kidney Foundation has conducted patient focused drug development meetings on Alport Syndrome , IgA nephropathy , and C3 glomerulopathy . NephCure Kidney International has created the Kidney Health Gateway to connect people with rare nephrotic syndromes with clinical trials.   

It is essential that the kidney community capitalize on these resources and opportunities. Adapting an “on-study culture”, where enrolling people in clinical trials is a priority, across the kidney community will be necessary to make clinical trials successful.  

Rare kidney diseases are finally receiving the attention they deserve. It takes a village to deliver innovation and the kidney community is doing great work to move innovative therapies forward. People with rare kidney diseases can have hope that the therapies of today will not be the treatments of tomorrow.