PRINTER'S NO. 3239
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE RESOLUTION
No.
464
Session of
2024
INTRODUCED BY MEHAFFIE, BARTON, BENNINGHOFF, CABELL, COOK,
CUTLER, DAVANZO, DIAMOND, FLICK, JOZWIAK, KAUFFMAN, KINSEY,
KRUPA, KUTZ, LABS, M. MACKENZIE, MALAGARI, MARCELL, MERCURI,
MOUL, MUSTELLO, NEILSON, E. NELSON, SCHEUREN, SCHLOSSBERG,
STEHR, STRUZZI, TOPPER AND WATRO, JUNE 4, 2024
REFERRED TO COMMITTEE ON HEALTH, JUNE 4, 2024
A RESOLUTION
Designating the month of July 2024 as "MECP2 Duplication
Syndrome Awareness Month" in Pennsylvania.
WHEREAS, MECP2 duplication syndrome is usually caused by
duplication of DNA on the Xq28 region of the chromosomes; and
WHEREAS, Despite MECP2 duplication syndrome being a
neurodevelopmental disorder, it causes multisystemic health
problems, such as severe gastrointestinal symptoms, frequent
respiratory infections and treatment-resistant seizures; and
WHEREAS, MECP2 duplication syndrome is a condition that
occurs almost exclusively in boys; and
WHEREAS, Some boys have large duplications which include many
other genes, and the full extent of phenotypes due to
duplication of other genes is not completely understood at this
time; and
WHEREAS, Recent studies have shown a link between MECP2
duplication syndrome and autism, and most boys with this
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
syndrome do have distinct features of autism; and
WHEREAS, Patients with MECP2 duplication syndrome are highly
responsive to proper stimulation such as schooling, exercise,
music, age-appropriate social interactions and related
activities; and
WHEREAS, MECP2 duplication syndrome can cause significant
anxiety, depression and emotional exhaustion on caregivers; and
WHEREAS, MECP2 duplication syndrome was not formally
recognized until 2005; and
WHEREAS, MECP2 duplication syndrome is most commonly
inherited in an X-linked manner, with affected males most
commonly inheriting the MECP2 duplication from the carrier
mother, but spontaneous duplications have been reported; and
WHEREAS, To date, no cases of a father transmitting the
duplication have been reported; and
WHEREAS, MECP2 duplication syndrome research, which has shown
that symptoms of the disorder can be reversed in mice using a
small antisense oligonucleotide, gives hope for the future
development of effective treatments for humans with this
disorder; and
WHEREAS, Clinical readiness studies have been done to
identify ways to monitor response to therapy and ensure safety
as a preparation for future clinical trials; and
WHEREAS, Natural history studies are ongoing to define the
natural course of MECP2 duplication syndrome over the span of 12
to 18 months to prepare for the start of clinical trials;
therefore be it
RESOLVED, That the House of Representatives designate the
month of July 2024 as "MECP2 Duplication Syndrome Awareness
Month" in Pennsylvania.
20240HR0464PN3239 - 2 -
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30