Transcript Document

Introduction 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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Adrenoleukodystrophy (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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Most 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 “Lorenzo’s Oil” was affected by this form of ALD)
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Other 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 Addison’s
disease) is another manifestation of
ALD (children or adults).
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Other 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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Diagnosis 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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Other 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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Newborn 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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Newborn 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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Newborn 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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Newborn 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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Newborn 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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Newborn 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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Newborn 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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Newborn 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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