PKU - North Carolina General Assembly · PKU • 1963: MA and OR pass legislation for PKU screening...
Transcript of PKU - North Carolina General Assembly · PKU • 1963: MA and OR pass legislation for PKU screening...
Untreated PKU Dr. Robert Guthrie – bacterial inhibition assay for PKU
PKU
• 1963: MA and OR pass legislation for PKU screening
• 1965: NC begins PKU screening
• Because of variability in number of conditions screened in states, HRSA commissioned a committee in 2002 to study this and make recommendations for core panel of conditions that should be screened
• This subsequently became the ACHDNC that reports to the Secretary of HHS
• Conditions are nominated for the RUSP• Charge of SACHDNC
– reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders.
– make systematic evidence-based and peer-reviewed analysis
• Committee votes
• If the Committee recommends that a condition be added to the RUSP this recommendation goes to the Secretary of HHS for final approval
• Secretary’s approval is a recommendation not a mandate
• It is up to individual states whether to add to their newborn screening panel and states can add conditions that have not yet been approved for the RUSP
34 Core Conditions
Currently on the
Recommended Uniform
Screening Panel
Plus 26 Secondary Conditions
Pompe March 2015
MPS-I February 2016
X-ALD June 2016
http://www.dukechildrens.org/services/medical_genetics/pompe
Pompe Disease
Infantile-onset (symptoms present in the first month of life)
• Muscle weakness• Cardiopulmonary insufficiency and death by 12-18
months.
Late onset Pompe disease (symptoms present in childhood or later)
• Progressive muscle weakness• Cardiac hypertrophy• Respiratory insufficiency
Pompe Disease
• Incidence
– 1:40,000
• Treatment
– Enzyme replacement therapy
– Can prevent death or permanent disability with trach/ventilator-dependence and immobility
Mucopolysaccharidosis I (MPS I)• Deficiency of lysosomal
enzyme -L-iduronidase
• Onset of symptoms before 6 months of age in severe form (Hurler syndrome)
• The severe form has both somatic and CNS involvement
• Early mortality in severe form (3 to 10 yrs of age)
• Rare (est. incidence 1:100,000)
• Autosomal recessive disorder
Age 4
Courtesy of Joseph Muenzer, MD, PhD
MPS I Treatment
– Early hematopoietic stem cell transplant (before 2 years of age)
– Peripheral IV enzyme replacement therapy effective for somatic complications
– Without early detection and treatment estimated cost for surgical procedures alone > $270,000 per patient
http://thethomasfamilytrials.blogspot.com/2012/02/one-year-post-transplant.html
X-Linked Adrenoleukodystrophy~1:15,000-1:20,000
What are the costs?
Medical bills from ALD diagnosis to present time (3 years): $5.2 million*
Estimated annual cost-of-care for the next 20 years: $80-100,000/year**
Est total over 25yrs: $6.8 –7.2million
late diagnosisearly diagnosis
Medical bills from ALD diagnosis to present time (4 years): $2.9 million*
Estimated annual cost-of-care for the next 20 years: $3-5,000/year**
Est total over 25yrs: $ 2.9 –3.0million*Actual hospital billing data for this patient
**KVH estimate
Addition of MPS-I, Pompe, and/or X-ALD in NC
Laboratory Start-up Costs ($1.0MM - $1.5MM)
• MS-MS instrumentation
• Equipment
• Facility Renovations
Recurring Costs ($0.5MM - $1.2MM)
• Kits, supplies, and reagents
• Scientific staff
• Cost to add:
o MPS-I = $500K
o MPS-I + Pompe = $750K
o MPS-I + Pompe + X-ALD = $1.2MM
Approximate increase to NBS Fee = $3.50 - $10.00
States Screening for Pompe Disease
Courtesy of NewSTEPS.org
States Screening for MPS1
Courtesy of NewSTEPS.org
States Screening for XALD
Courtesy of NewSTEPS.org
Questions?
Tiffany GladneyDirector of Advocacy & Government [email protected](919) 424-2168