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 AffairsTgladney@marchofdimes.org(919) 424-2168