FDA orphan drug product designation database, http://www.accessdata.fda.gov/scripts/opdlisting/oopd/index.cfm
from the Food and Drug Administration Office of
Pediatric Therapeutics, Division of Pediatric and
Maternal Health, and Office of Orphan Products
The Food and Drug Administration’s (FDA’s) Orphan
Drug Designation program provides financial incentives to
sponsors that develop drugs and biologics intended for the
treatment, diagnosis or prevention of rare diseases/disorders
that affect fewer than 200,000 people or when they are not
expected to recover the costs of research and development
of the treatment for a specific indication.
Sponsor participation in the orphan drug designation
program continues to grow. Since the program began in
1983, the FDA has received more than 5,700 requests for
orphan drug designations; more than 1,000 requests were
received in 2016.
The program has enabled the development and marketing
of almost 600 drugs and biologic products for rare diseases.
A significant proportion of orphan drug designations are for
products that receive marketing approval for use in children.
In 2016, the FDA approved products for the diagnosis or
treatment of 39 orphan diseases or conditions of which 14
were indicated for use in the pediatric population (see table).
Two products with orphan drug designations (eteplirsen for
treatment of Duchenne muscular dystrophy and nusinersen
for treatment of spinal muscular atrophy) also were awarded
vouchers that provided expedited review of the drugs by
• If you are interested in making this transformation, visit
the Screening Technical Assistance Center for support
• To sign up for the Screening in Practices monthly
eNewsletter, email firstname.lastname@example.org.
from the AAP Division of Developmental
Pediatrics and Preventive Services
What if you could get a fuller picture of a child’s
health and use this information to change the course
of that child’s life?
You can do both these things through the AAP Screening in Practices Initiative. The Academy is launching a
new quality improvement learning collaborative and
Screening Technical Assistance (TA) Center with the
goal of increasing rates of early childhood screening,
referral and follow-up for developmental milestones,
maternal depression and social determinants of health.
Learning collaborative opportunity
Through a year-long learning collaborative, which
will begin in July, a diverse group of 20 pediatric primary care practices from around the country will measure, evaluate and improve upon screening, referral and
follow-up using quality improvement methodology.
Key areas of focus will include enhancing family-centered care, improving processes to track referral and follow-up, and working with community partners to develop
a robust referral network to support the needs of children
and families. Participating practice teams will receive a
small stipend and will have the opportunity to participate
in two in-person learning sessions, monthly webinars and
coaching calls, and an on-site coaching visit.
For more information about the learning collaborative, contact Sigal Shapira at 847-434-4290 or
Screening Technical Assistance Center
The Screening TA Center offers a website, http://bit.
ly/2mVsDOP, with extensive resources as well as free,
individualized assistance to those seeking to initiate or
improve the early childhood screening process in their
practice or health care system. Experts are available to
provide advice on screening tools, payment, electronic
medical record documentation, conversation tactics,
workflow ideas, and how to make the case for screening
within a larger health system.
An interactive online course featuring conversation
simulations as well as a train-the-trainer program will
be available later this year. These resources are being developed with the insights and experiences of leaders in
the field who have implemented family-centered early
childhood screening processes in their own practices.
For technical assistance, call 888-227-1782 or email
Importance of the screening process
Implementing a screening process for developmental
milestones, maternal depression and social determinants
of health provides health care professionals with the opportunity to improve the short- and long-term health of
the child and family. Early identification and connection
to services increase the impact of these services, whether
it is through increasing the likelihood of developmental
improvement; preventing cognitive, neurological and
social-emotional delays that can develop as a result of
maternal depression; or reducing exposure to adverse
childhood events that can disrupt brain development.
Universal screening is the keystone to the screening
process. Experts suggest that screening only children
who present with concerns identifies only 30% to 40%
of potential developmental delays, as developmental
progress is a spectrum and nuances may be missed.
Similarly, maternal depression can range in severity,
and family appearances can be deceiving. Administer-
ing screens universally reduces the stigma and presents
health care professionals with the opportunity to dis-
cuss concerns in a structured format.
Beyond screening, many experts see referral and
follow-up as even more crucial. Connecting families
to services for developmental concerns, mental health
support or food security can be challenging, but it’s not
impossible. Short- and long-term strategies can reduce
the burden of managing referrals and follow-up, such as
connecting with local social service agencies that have
their own referral lists, offering co-located mental health
services and using screening data to demonstrate patient
needs to funders in order to hire more support staff.
R.J. Gillespie, M.D., M.H.P.E., FAAP, of The Children’s Clinic in Portland, Ore., said implementing a
comprehensive screening process was “the single most
transformative change I’ve made in my practice.”
AAP resources help improve rates of screening, referral, follow-up
FDA fosters development of therapies for children with rare diseases
Orphan drug products with pediatric indications approved in 2016
Orphan drug product Rare disease/condition
Dysport (botulinum toxin type A) muscle contractures in pediatric cerebral palsy patients
Ilaris (canakinumab) • hyperimmunoglobulinemia D syndrome/mevalonate kinase
• familial Mediterranean fever
• tumor necrosis factor receptor associated periodic syndrome
Defitelio (defibrotide) hepatic veno-occlusive disease
Exondys 51 (eteplirsen) Duchenne muscular dystrophy
Netspot (Gallium [Ga-68]-N-[( 4, 7,10-Tricarboxymethyl- 1, localization of neuroendocrine tumors
4, 7,10-tetraazacyclododec-1-yl) acetyl]-D-phenylalanyl-L-cysteinyl-L-tyrosyl-D-tryptophanyl-L-lysyl-L-threoninyl-L-cysteinyl-L-threonine-cyclic ( 2-7) disulfide)
Orkambi (lumacaftor/ivacaftor) cystic fibrosis
Vermox (mebendazole) gastrointestinal infections caused by Ascaris lumbricoides
(roundworm) and Trichuris trichiura (whipworm)
Provayblue (methylene blue) methemoglobinemia
Orfadin (nitisinone) tyrosinemia type 1
Spinraza (nusinersen) spinal muscular atrophy
Anthim (obiltoxaximab) inhalation anthrax
Zemplar (paricalcitol) pediatric hyperparathyroidism
Idelvion (recombinant fusion protein linking coagulation factor IX deficiency (hemophilia B)
factor IX with albumin)
Crestor (rosuvastatin) pediatric homozygous familial hypercholesterolemia