Does Anyone Care? A Case Study of Funding Research on Rare Diseases

 photo: totojang1977/shutterstock

photo: totojang1977/shutterstock

When you hear the term rare disease, you probably associate it with diseases like ALS, cystic fibrosis and certain cancers. And you would be right. According to the Orphan Drug Act of 1983, any disease affecting fewer than 200,000 Americans is considered rare. There are many causes of these diseases. The majority are thought to be genetic, directly caused by changes in genes or chromosomes. And a whopping 75 percent of rare diseases affect children.

Despite the devastating pain they can inflict on families, rare diseases tend to attract scant interest from the pharmaceutical industry, which sees few financial incentives to develop drugs that will have so small a market. Government funding is also often scarce, given that the National Institutes of Health tends to prioritize diseases that inflict a large toll on the American public.

All this explains why it’s mainly been private philanthropy that has risen to the challenge of funding rare disease research. But such support seldom comes from foundations or billionaire donors. Instead, it mostly comes from the families and friends of people affected by rare diseases. These deeply passionate small donors can raise significant amounts of money for research that otherwise wouldn’t happen—research that can lead to important breakthroughs.

The Rarest of the Rare 

A case in point is the community of donors focused on cystinosis, which is so rare that it affects only 500 people in the United States and 2,000 people worldwide.

Cystinosis is a metabolic disease that slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. But because this impacts such small population, money for cystinosis research is hard to find.

The Cystinosis Research Foundation has been working to change that since 2003. It’s the largest provider of grants for cystinosis research in the world, and has funded 175 grants in 12 countries. It recently announced $2.4 million to date this year in grants to researchers around the globe in “an ongoing quest to find improved treatments and a cure for cystinosis.”

“CRF has made an enormous impact by creating an international research community that is focused on cystinosis every day,” said Nancy Stack, CRF founder and president. “By providing funds to researchers, we have been able to leverage our research dollars by over $12.2 million in grants from the National Institutes of Health and other granting agencies. We are small in terms of our community, but we have achieved significant results.”

Powerful Appeals, Research Gains

So how does CRF manage to mobilize serious research funding for a disease that affects so few people? Well, if you visit its website, you’ll get a sense of what drives donor engagement: numerous heart-wrenching stories of children who suffer from cystinosis. But CRF does more than just present these case studies—it encourages people to donate toward finding a cure and provides an easy means to do that online. Given the number of lives affected in a family and community when one child has cystinosis, you can see why funding appeals could have a wide reach—and why people would feel a strong urge to donate.

In turn, money supports a research strategy overseen by a scientific review board. In order to find a cure and better treatments for a complicated disease like cystinosis, CRF funds research in all areas the disease affects: kidneys, eyes, brain, muscle and bone. Funds back bench, clinical and translational research in the United States, Switzerland, France, Belgium and Italy. The details of each study can be found on the CRF website.

And this investment in research is paying off. CRF has funded every early clinical study that resulted in an FDA-approved medication that has improved the lives of those afflicted by cystinosis.

Broader Payoffs

There are nearly 7,000 rare diseases that impact nearly 30 million Americans. These figures give rise to an oft-quoted phrase: “While a rare disease is rare, rare diseases are common.” Research on complicated diseases like cystinosis often leads to advancements in other diseases both rare and common. Understanding the molecular and cellular mechanisms underlying rare diseases often provides insight into other diseases.

For example, the research CRF funds has led to advancements in the treatment of other more prevalent disorders and diseases, including “other corneal diseases, muscular degenerative disorders, kidney diseases and genetic and systemic diseases similar to cystinosis.”

“Our work on the new therapeutic approach we developed for cystinosis using gene therapy and hematopoietic stem cells (HSCs) and our findings on these cells could prevent tissue degeneration, and opens new perspectives in the application of such a therapy to other genetic disorders,” said Stephanie Cherqui, Ph.D., UC San Diego.

Dr. Cherqui’s stem cell therapy approach was successful in the mouse models for Friedrich’s ataxia, a neuro-muscular degenerative disorder, and in Danon disease, a cardio-muscular degenerative disorder. Dr. Cherqui said, “Based on our work on cystinosis, Dr. Olivier Devuyst in Switzerland also successfully treated the mouse model of Dent Disease, a hereditary kidney disorder, using the same approach.”