Rare Disease Day: Worth Your Attention

There are now many more “awareness” days than there are days on the calendar—thousands.

Jan. 10, for example, is cluttered with seven. Houseplants, bittersweet chocolate, cutting energy costs, shareholders, eagles (the bird, not the football team), quitters and, a favorite, peculiar people, are all celebrated on the tenth of January each year.

This is unfortunate in that it undermines the value of awareness days: to focus attention on issues, once better understood, which deserve significant attention and action.

One such deserving celebratory day is Rare Disease Day, which falls on the last day of February. 

When it was established in 2008, it stood alone. Today, it competes with ladybugs, planning for vacation, data privacy and blueberries.

Orphan Drug Act

Initially, Rare Disease Day marked the 25^th anniversary of the Orphan Drug Act. The tax incentives and patent protections this law provides changed the world for rare disease patients.

It lowered the risk profile for biopharmaceutical companies when they venture into R&D for diseases affecting small patient populations (a rare disease is defined as condition affecting fewer than 200,000 people).

Where there were virtually no medicines available to treat the more than 7,000 rare diseases affecting more than 30 million Americans—each rare disease is rare, but rare diseases are not rare—the Orphan Drug Act has been the catalyst for the development of more than 650 rare disease medicines.

The fruits of the act and the value of the focus Rare Disease Day has brought to the need for more research and development were front and center at this year’s Connecticut General Assembly program.

Bioscience Growth Council Member Contributions

At the event, CBIA’s Bioscience Growth Council highlighted the contributions of its members—emerging biotechs, established biopharmas, and research institutions—to rare disease research and development.

Nearly every member of the council is involved in some aspect of rare disease R&D.

Alexion Pharmaceuticals has brought to market breakthrough medicines for several rare diseases, including PNH, a rare disease that destroys blood cells and bone marrow.

Pfizer has contributed extensively in the hemophilia space.

CBIA’s Bioscience Growth Council highlighted the contributions of its members to rare disease research and development.

Novartis’ cutting-edge R&D has produced medicines for rare blood vessel abnormalities.

Sanofi has built a deep expertise in immune and inflammatory response mechanisms that has helped our understanding of the onset and progression of several rare diseases.

The Jackson Laboratory Rare Disease Translational Center continues to be a magnet for NIH and other grants to fund its multi-disciplinary approach to studying rare genetic disorders.

Connecticut Children’s Medical Center is in the forefront of using cutting edge genomic testing to speed diagnosis of rare diseases in infants.

Whole Genome Sequencing, Biomarker Testing

Indeed, the council’s advocacy over the past few years for whole genome sequencing and biomarker testing—these technologies identify the precise genes and toxins that cause disease and replace a host of indirect measures—has dramatically shortened the time it takes to diagnose a rare disease.

This is, of course, hugely valuable to patients, reducing their “diagnostic odyssey” from years to weeks and sometimes just days.

It is also extremely valuable to our healthcare system—by reducing the number of tests necessary to diagnose a rare disease, rapid whole genome sequencing and biomarker testing result in significant cost savings.

Gene Therapy

Perhaps the most heartening presentation at this year’s Rare Disease Day at the Capitol was that of a medical student who suffers from sickle cell disease.

This rare disease of misshapen red blood cells causes excruciating joint pain and can lead to strokes and other life-threatening complications.

For years, no treatment existed and then, more recently, bone marrow transplants became available for the small proportion of sickle cell patients for whom a close genetic match could be found.

The medicines are in a new class of gene therapies that use gene “editing” technology.

While effective, bone marrow transplants result in patients needing to spend the rest of their lives taking—lifespan shortening—immunosuppressant drugs.

In a game-changing advance and after years of biopharma R&D, in December the Food and Drug Administration approved two medicines that cure sickle cell disease.

The medicines are in a new class of gene therapies that use gene “editing” technology to replace or repair defective genes.

Once treated, patients are essentially cured, with no need for further medical treatment.

R&D Is Critical

Council executive director Paul Pescatello concluded Rare Disease Day by underscoring the time and cost associated with creating new rare disease medicines is no different from that for diseases with broader patient populations: 10-12 years and $2.7 billion.

“Tax and other policies that appreciate this very unique research and development profile and demanding business model, policies that indicate an understanding that companies and research institutions can’t—and won’t be able to—do the research unless they’re able to recoup their huge investments are critical,” he said.

“Anything we can do to promote and reward life science R&D helps, speeds, rare disease research—helps bring rare disease treatments and cures across the finish line of FDA approval.”

Research Helps All of Us

Pescatello noted that incentives to spur rare disease R&D of course bring new treatments and cures to rare disease patients but also informs and fuels insights into diseases that affect much larger patient populations.

For example, many rare diseases are forms of cancer and research on these diseases has advanced our understanding and treatment of cancer generally.

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Paul Pescatello is the executive director of CBIA’s Bioscience Growth Council and chair of We Work for Health Connecticut. Follow him on X @CTBio.