BILL NUMBER: S6814

SPONSOR: RIVERA
 
TITLE OF BILL:

An act to amend the public health law, in relation to newborn screening
for duchenne muscular dystrophy

 
PURPOSE OR GENERAL IDEA OF BILL:

This bill adds Duchenne muscular dystrophy to the list of diseases and
conditions that newborns are required to be tested for.

 
SUMMARY OF SPECIFIC PROVISIONS:

Section 1 of the bill authorizes the Commissioner of Health to add Duch-
enne muscular dystrophy to the list of diseases and conditions that
every infant under 28 days of age must be tested for once the Wadsworth
Center validates such test.

Section 2 of the bill includes the effective date

              

 
JUSTIFICATION:

Duchenne muscular dystrophy (Duchenne), the most common form of muscular
dystrophy, is a fatal genetic pediatric disease that results in progres-
sive muscle deterioration and weakness, which causes an inability to
walk and feed oneself and to breathe unassisted over time. Duchenne is
caused by a gene mutation and affects approximately one out of every
3,500 to 5,000 male births with most patient's dying in their mid-to-
late twenties.

The average age for diagnosis of Duchenne is five years of age, which is
on average 2.5 years after parents or caregivers typically first notice
symptoms of the disease. This diagnosis delay is often worse for fami-
lies of color and families of lower socioeconomic status.

Early detection of Duchenne is important as it is a non-reversible
progressive disease for which there are currently multiple treatments
that significantly slow the progression of the disease, four of which
are approved by the U.S. Food and Drug Administration (FDA) for use from
the date of birth. Additionally, there are several gene therapies
targeting the mutated gene that causes Duchenne that are currently in
trials.

Newborn screening for detecting Duchenne is currently available as the
FDA has already approved a lab test that uses the same blood spots that
are collected at birth. New York currently requires newborn screening
for over 50 diseases and conditions including congenital heart defects,
adrenoleukodystrophy, hypothyroidism, HIV, and Cystic Fibrosis.

Adding Duchenne to the list of conditions and diseases that are screened
for newborns will help identify individuals who should begin receiving
appropriate care and treatments sooner and will help eliminate the
racial and socioeconomic disparities of diagnosis and treatment of Duch-
enne.

 
PRIOR LEGISLATIVE HISTORY:

None

 
FISCAL IMPLICATIONS:

None

 
EFFECTIVE DATE:
This act shall take effect on the 120th day after it shall become law.
Effective immediately, the Commissioner of Health shall make regulations
and take other actions reasonably necessary to implement this act on
that date.