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These are the most common questions that have been asked so far, if you have
additional questions please contact me at research@noonansyndrome.org
Who is Dr. Amy Roberts?
My name is Amy Roberts. I am a clinical geneticist in Boston and am heading
up a study for children and adults who have been told they have Noonan
syndrome or "something like" Noonan syndrome. I hope you don't mind if
I
answer a few general questions to the whole group. It would be my pleasure
to answer more specific questions anyone has- please email me individually.
Who dose Dr. Amy Roberts work with?
I work with Raju Kucherlapati, PhD who was one of the principal
investigators (along with Dr. Bruce Gelb) who discovered what has been
called the first Noonan syndrome gene. The gene is called PTPN11 (protein
tyrosine phosphatase non-receptor, type 11). In our experience, about half
of children and adults who have been given a clinical diagnosis of Noonan
syndrome (a diagnosis based on physical exam features and medical issues)
will have a mutation or change in this gene when the gene is sequenced.
Dose TNSSG support this study?
Wanda was able to take some time out of her very busy schedule to visit us
last spring. She met the physicians and researchers involved with the study
and toured the laboratory and clinical facilities. She agreed that there
may be many NSSG members who would be interested in participating in our
study.
Will The Noonan Syndrome Support Group, Inc. receive any financial
gain
from the study or THE HARVARD PARTNERS CENTER FOR
GENETICS AND GENOMICS (HPCGG)?
No. The Noonan Syndrome Support Group, Inc. will not receive any money
for participating in the study.
What dose Dr. Noonan think?
I met Dr. Noonan this summer and briefly reviewed our study with her. She
thought many of her patients might be interested in participating in the
study, too.
What is the purpose of the study?
The purpose of the study is to bring as many families to Boston as possible
for evaluation. We can see patients starting now and hope to enroll through
May 2004. The visit would include a review of family, developmental, and
medical history and a complete physical exam. With your consent,
photographs would be taken. Blood would be drawn for 1. PTPN11 mutation
analysis, 2. Coagulation studies (if not already completed elsewhere), and
3. Chromosome analysis (if not already completed elsewhere). Anyone who has
not had an echocardiogram would have one arranged. Anyone who has not had a
kidney ultrasound would have one arranged. Anyone in the family who has a
diagnosis of Noonan syndrome will be enrolled.
Will I be told my results of the study?
The results of all of the above studies would be made available to you and
your referring doctor. It may take several months to get PTPN11 gene results
but they will be made available to you and your doctor.
How do I get to Boston, MA?
For those farther than a car ride away from Boston,
(10-3-03 I was able to get information about Angel Flight: http://www.PatientTravel.org and I am very excited to share what I learned!) Angel Flight provides
all
forms of charitable, long distance medical air transportation (including medical
studies)
It looks like they
can arrange flights directly through Angel Flight for those
that
live within 1000 miles (one way) of Boston and
will help to arrange discounted
or
free
commercial flights for those that live farther away within the United States.
Our study does qualify so if you are interested in coming and have financial
need for assistance with travel,
we can work on making those arrangements.
The first step is to make an appointment with me in the research center and
then flight arrangements can be be made as follows:
How does Angel Flight work?
If you live within 1000 miles of Boston (approximately east of St Louis):
Angel Flight Requires
1. Medical release form from your/your child's physician stating they
are safe to fly
2. Financial necessity screening (done with you on the phone by Angel
Flight)
3. 2-3 weeks advance notice
I live more than a 1,000 miles from Boston?
If you live more than 1000 miles from Boston but within the United States:
Angel Flight makes arrangements with commercial airline special programs and
requires:
1. Medical release form from your child's physician stating they are
safe to fly
2. Financial needs certification that paying for commercial air
transportation would be a financial hardship
3. 4 weeks advance notice
I live outside of the United States?
If you live outside of the United States:
Angel flight does not have a formal international program but considers
children (only, not adults) on a case by case basis.
Are there any other organizations that will help me get to Boston,
MA?
You can check with Operation Liftoff, they provide trips within the United
States
for children who are facing life threatening illnesses: http://www.operationliftoff.com
Where would I stay in Boston?
I have information about a program through the hospital that can help
with lodging (local families that
have a spare room or two provide the housing).
How much will we have to pay for the medical studies?
$ 0
Can I still be in the study if I can not get to Boston?
For those who do not want to travel to Boston, you may be able to
participate from home. We still need to gain approval for our lab to accept
samples from outside physicians. Once we have this approval, then we could
enroll patients through their local geneticist if the geneticist agrees to
get your signed consent, send medical information, arrange for
echocardiogram, renal ultrasound and coagulation studies if they have not
been done, and can have a blood sample sent to our lab for PTPN11 gene
mutation analysis. My hope is that we will be able to have approval to
receive these outside samples in the next month or so and then anyone (in
the US or outside of the US) can participate.
How do I get in touch with Dr. Amy Roberts?
If you are interested in being a part of the Harvard Noonan syndrome study
and think you would qualify for this program, please contact me so we can
begin the planning process. Do not hesitate to contact me with other
questions or concerns!
Sincerely,
Amy Roberts
Amy E. Roberts, MD
Clinical Genetics Fellow
77 Avenue Louis Pasteur
Boston, MA 02115
617-525-5768 Phone E-Mail: aeroberts@partners.org
617-525-4488 Fax
Back to Harvard Study information
Harvard IRB
TM 2003 [The Noonan Syndrome Support Group, Inc. ]. All rights reserved.
Revised: December 13, 2007
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