Title: Introduction to the ALD Newborn Screening Study to be performed at Frederick Memorial Hospital and three other Maryland Hospitals
1Introduction to the ALD Newborn Screening Study
to be performed at Frederick Memorial Hospital
and three other Maryland Hospitals PART 1
BACKGROUND INFORMATION
Christiane Theda MD PhD (FMH and Melbourne,
Australia) Presenters Pam Bell RNC, Clinical
Educator, FMH NICU and Janice Lane RN, Clinical
Educator, FMH FC/Peds
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2Adrenoleukodystrophy (ALD) is an inherited
disorders (X-linked recessive inheritance
typically mothers inherit the disease to their
sons). ALD can manifest at different ages with
different forms of the disease. Estimated
disease frequency is 1 in 21,000 males.
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3Most common is the childhood cerebral form of
ALD Behavior changes and loss of motor,
auditory and visual function are appearing
typically between age 4 and 10 years. Symptoms
are due demyelination the destruction of
myelin, a substance essential for brain
function. (Lorenzo in the movie Lorenzos Oil
was affected by this form of ALD)
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4Other forms of ALD are An adult form with loss
of motor function due to a peripheral neuropathy
(Adrenomyeloneuropathy). Disturbance of adrenal
gland function (adrenal insufficiency or
Addisons disease) is another manifestation of
ALD (children or adults).
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5Other forms of ALD Sometimes a female carrying
the ALD gene (female heterozygote) has symptoms
(usually as adult). Very rarely, a male carrying
the gene has no symptoms, even up to old age.
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6Diagnosis of ALD ALD can be diagnosed by a
blood test which analyses the levels of very long
chain fatty acids (VLCFA). VLCFA accumulate in
blood due to the underlying genetic defect.
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7Other diseases with elevated VLCFA Peroxisomal
disorders (PD) - a group of disorders that are
related to ALD due to the nature of the
defects. Some patients with PD may be quite ill
(floppy, seizures) and could be patients in a
NICU. Both peroxisomal disorders and ALD affect
the assembly and/or function of a cell organelle
called the peroxisome.
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8Newborn Screening for ALD and PD Why would we
want to screen newborns for ALD and PD? Diet
therapy is now commonly used and studies indicate
that it may positively affect outcome (usually
severe and debilitating loss of function and
ultimately death) when started early.
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9Newborn Screening for ALD and PD Why would we
want to screen newborns for ALD and PD? Early
diagnosis can lead to early evaluations (such as
MRI detection of demyelination before frank
symptoms or endocrine testing before dangerous
adrenal insufficiency develops).
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10Newborn Screening for ALD and PD Why would we
want to screen newborns for ALD and PD? Early
diagnosis and evaluations will leave time to
assess if other therapies may be beneficial to
individual patients (such as bone marrow /
hematopoietic stem cell transplants).
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11Newborn Screening for ALD and PD Why would we
want to screen newborns for ALD and
PD? Reproductive choices for parents (knowing
about the potential risk of other affected
children allows for informed choices for family
planning also, prenatal diagnosis for ALD / PD
is available).
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12Newborn Screening for ALD and PD Why have we
not been screening newborns for ALD and PD until
now? New technology (tandem mass spectrometry)
has developed over the last few year and is now
used for routine newborn screening.
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13Newborn Screening for ALD and PD Tandem mass
spectrometry Allows high throughput testing
using the routine blood spots for a great number
of different disorders. A method to screen for
elevated VLCFA has been developed.
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14Newborn Screening for ALD and PD Preliminary
studies Yes, using the new method, patients
later diagnosed with elevation of VLCFA with the
old fashioned blood test had elevated VLCFA at
birth when their newborn screening blood cards
were analyzed retrospectively very encouraging!
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15Newborn Screening for ALD and PD So, here we
are Frederick Memorial Hospital has been
included as one of four Maryland Hospitals to
perform a prospective study to offer optional
testing for ALD / PD to parents. The other
three hospitals are Johns Hopkins Hospital,
Johns Hopkins Bayview Medical Center and GBMC in
Towson
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