United Kingdom
Manchester
- A Registry Study to Characterise Genetic and Pathway Biomarkers in Noonan Syndrome and Other RASopathy Patients – for more information click here.
Contact:
Dr. Bronwyn Kerr
Genetic Medicine, St Mary’s Hospital
Oxford Road
Manchester M13 9WL
(0161) 276 3742
brownyn.kerr@cmft.nhs.uk/
- CASPER – The Cognitive and Social Profiling: Exploring Rasopathies (CASPER) study is a research study into a group of conditions called the RAS-MAPK pathway disorders. Go to http://www.bbmh.manchester.ac.uk/casper/AboutCASPER/ for a description.
Contact:
If you would like to speak to the team at the University of Manchester for more information about the research, please contact:
Amy Burns
email: amy.burns@manchester.ac.uk
tel: 07919 528164
Ami Brooks
email: ami.brooks@manchester.ac.uk
tel: +44(0)161 306 7953
If you would like to speak to the team at the Manchester Centre for Genomic Medicine, please contact;
Bronwyn Kerr
email: bronwyn.kerr@cmft.nhs.uk
Emma Burkitt-Wright
emma.burkittwright@postgrad.mbs.ac.uk
tel: +44(0)161 701 5105
United States
California
Palo Alto University
Participate in one of the first studies looking at the relationship between quality of life, behavior, and social cognition in RASopathy syndromes – for Noonan syndrome, and now open to any RASopathy.
Study Includes:
• Parent online survey (~1hr)
• Child online survey & assessment (~1 hr)
• Parent phone survey (~30 minutes)
Who can participate?
• Any child with a RASopathy diagnosis and their family
• Ages 8-18
• English-speaking
Additional Information
• Families from outside the US are welcome to participate!
• For children with limited reading levels, families may choose for only parents to participate.
• For families with limited internet access, we are happy to mail paper surveys.
Click here for flyer.
Contact:
Paige Naylor, Doctoral Candidate
rasopathies.pau@gmail.com
1 (504) 881-3925
This study is sponsored and monitored by the Palo Alto University IRB. The research team includes Wendy Packman, PhD, JD and Paige Naylor.
University of California, San Francisco
The RasCal Study – RASopathy Associated Traits – for a description click here and scroll to the last page, or here to go to the UCSF page with detailed information.
Contact:
Lauren Weiss, PhD
University of California, San Francisco
(415) 476-6988
lauren.weiss@ucsf.edu
http://anp.ucsf.edu/research/studies/rascal
Noonan syndrome
Stanford University
Seeking participants
Study of brain and cognitive development in boys and girls with Noonan syndrome
The project is a pilot study looking at Noonan Syndrome in children (ages 4-11). We are hoping to recruit ten families of children with a confirmed PTPN11 mutation to participate in a two-day visit to Stanford University, which will include neuropsychological testing and an MRI. Families who choose to participate will have travel arrangements covered by the study, and will receive a summary of the testing results for participating and a small monetary honorarium for participating.
http://cibsr.stanford.edu/participating/currently-enrolling/noonansyndrome.html
Click HERE for the flyer for families interested in participating.
Contact:
Alexandra Ishak
ishak@stanford.edu
(650) 440-1902
Massachusetts
Hypertrophic Cardiomyopathy Study for Individuals with Noonan Syndrome with Multiple Lentigines / LEOPARD syndrome – for more information, click here.
Contact:
Jane Messere, RN, Research Nurse
Children’s Hospital, Boston
(857) 218-3628
jane.messere@cardio.chboston.org
Minnesota
Strengths and difficulties of children with genetic and neurodevelopmental differences
University o fMinnesota, Twin Cities and University of Wisconsin, Madison
Approved for use by UMN IRB Effective on 6/20/2019
IRB Study Number: STUDY00006323
Researchers at UMN and UW are seeking research participants for a unique study on behavioral strengths and challenges of children ages 3-17 with any of the following diagnoses:
Autism Spectrum Disorder (ASD) Cardiofaciocutaneous (CFC) Syndrome Costello Syndrome (CS)
Fragile X Syndrome (FXS) Neurofibromatosis Type 1 (NF1) Noonan Syndrome (NS)
The purpose of the study is to learn how to help children build on their strengths and overcome challenges. By studying children with several different conditions, we can better understand the unique strengths and needs of children with each of these genetic or neurodevelopmental differences.
To complete this study, parents/caregivers will be asked to complete a 15-20 minute survey about their child’s day-to-day behavior. Families will be entered into a drawing for prizes:
1 Grand prize: $100 gift card
1 Second prize: $50 gift card
2 Third prizes: $25 gift card
For a flyer, click here
Contact:
Alli Foy, MS and Rene Pierpont, PhD, LP
University of Minnesota Medical Center
Email: SDQ@umn.edu
Phone: (608) 709-9067
Missouri
St. Louis – Washington University
The Neurofibromatosis Type 1 Patient Registry (NPR1) is currently recruiting both adults and children with NF1 for a childhood brain tumor study. The goal of this study is to identify differences in medical, social, demographic, and birth characteristics of children who develop childhood brain tumors compared to those who do not develop these tumors. We are looking for individuals with NF1 who either (1) HAVE previously been diagnosed with a brain tumor younger than age 18 years or (2) HAVE NEVER had a brain tumor. For more information click here: https://nf1registry.
Completing the online questionnaire/registration will take approximately 30 minutes of your time.
Contact:
The Neurofibromatosis Type 1 Patient Registry
Email: nf1registry@
Phone: (314) 935-3888
https://nf1registry.wustl.edu/
New York
A Registry Study to Characterize Genetic and Pathway Biomarkers in Noonan Syndrome and Other RASopathy patients – for more information, click here.
Contact:
Meghan Mac Neal, MS, CGC, MPH
Icahn School of Medicine at Mount Sinai
Meghan.macneal@mssm.edu
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Pennsylvania
UPMC Children’s Hospital of Pittsburgh
April 2020
Participate in a research study evaluating the characteristics of brain and spinal cord tumors (cancers) that occur in children, adolescents, and adults with all types of RASopathies except for Neurofibromatosis type 1 (NF1).
Study includes 1) permission to get and review clinical and imaging information from medical records obtained as part of standard of care at your local hospital 2) permission to use leftover tumor samples (if available from previous surgeries) and to collect some saliva
Contact:
Dr. Alberto Broniscer, MD MS
Tel: 412-692-5056
email: alberto.broniscer@chp.edu
More info HERE
Children’s Hospital, Philadelphia (CHOP)
A sleep research study to help develop a new pediatric sleep health survey to better understand how sleep health relates to RASopathies.
For parents of individuals with a RASopathy to complete a 10-15 minute online survey. Affected children between the ages of 8 and 17 may be able to participate in the study by answering the survey, as well. Anyone who understands English is eligible to participate (it is not limited to the United States).
Link to the consent and survey: https://redcap.chop.edu/
Contact:
Anna de la Motte, Study Coordinator
delamottea@email.chop.edu
(215) 590-3196.
Washington DC
Children’s National Hospital, Dr. Andrew Dauber
Fall 2020
Research study testing an experimental medication: Vosoritide for Selected Genetic Causes of Short Stature
Webinar about the trial is Here
Flyer with more information is Here
Contact:
Email: tmccarthy@childrensnational.org
adauber@childrensnational.org
Tel: 202-476-6894
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Clinical trials pertaining to any of the RASopathies will be drawn from external sites Clinicaltrials.gov and clinicaltrialsregister.eu – stay tuned!
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If you are a researcher who is conducting a clinical trial, please contact us.
