Features
Finding Homes for Orphans
The unique challenges of researching, managing, and developing orphan
drugs for rare diseases
Rare diseases are having a moment, and not
just in the field of hematology, where most of
the “orphan diseases” find their home.
In 2017, the U.S. Food and Drug
Administration (FDA) approved 80 agents
with an orphan indication (a drug intended
to treat any disease that affects fewer than
200,000 patients), and that number climbed
to 90 in 2018. Most of those approvals are for
the treatment of rare hematologic disorders,
which account for a large portion of the dis-
orders hematologists see every day: Between
2008 and 2017, more than half of the drugs
granted orphan status were for the treat-
ment of hematologic malignancies or blood
disorders. 1
Despite the name, rare diseases are not
so rare. The National Organization for Rare
Disorders (NORD) lists more than 7,000
rare diseases and disorders, which affect
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approximately 30 million Americans, or 10
percent of the U.S. population. 2 The record
number of new drug approvals and growing
attention being paid to these disorders reflect
concerted efforts by doctors, researchers,
pharmaceutical companies, patient advocacy
groups, and the FDA to raise awareness about
their profound impact on patients’ – and
caregivers’ – lives.
By some measures, these stakeholders
have been enormously successful; by others,
they still have a long way to go. “Rare dis-
eases have received more attention in the me-
dia, but I think it’s been harder to reach that
same level of attention in terms of research,”
said Neil Zakai, MD, MSc, a hematologist at
the University of Vermont Medical (UVM)
Center and an associate professor at UVM’s
Larner College of Medicine.
ASH Clinical News spoke with Dr. Zakai
and other clinicians and researchers about the
recent attention being paid to these disorders
– and how to translate the seeming popularity
of rare diseases into meaningful progress for
patients.
What Is a Rare Disease?
The FDA defines a rare disease as one that
affects fewer than 200,000 patients, and any
drug or biologic intended to treat, diagnose,
or prevent such diseases as an “orphan drug.” 3
Other countries have similar definitions,
although the number of affected persons
can vary. Regardless of the exact threshold
applied, rare diseases are given this special
distinction to promote awareness of – and
eventually improve the diagnosis and treat-
ment of – these conditions.
However, the limited number of patients
suffering from each rare disease has led to
February 2019