© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

PTEN Autism Study

Clinical research study for individuals diagnosed with autism spectrum disorder and PTEN hamartoma tumor syndrome

We are currently conducting a clinical research study at UCLA for individuals between the ages of 3 and 21 years old with PTEN hamartoma tumor syndrome for a new study. The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder. This is a multi-center research study conducted as part of the Rare Disease Clinical Research Network (RDCRN) and sponsored by the National Institutes of Health (NIH).

English speaking individuals diagnosed with PTEN hamartoma tumor syndrome and/or autism spectrum disorder are eligible to participate in this study if they are between the ages of 3 and 21 years old. The study involves five visits over a two year period. Three of the visits occur on site at the study location and involve a blood draw, physical and neurological exam and developmental testing. Two visits occur as phone calls and involve answering questionnaires about behavior and development.

The study involves five visits over a two year period. Three of the visits occur on site at the study location and involve a blood draw, physical and neurological exam and developmental testing. Two visits occur as phone calls and involve answering questionnaires about behavior and development.

If you are interested in learning more about this study, please contact Binh Pham at ptenucla@mednet.ucla.edu or at (310) 794-5065.

Natural History Study of Individuals with Autism and Germline Heterozygous PTEN Mutations

We are enrolling individuals between the ages of 3 and 21 years old with PTEN hamartoma tumor syndrome for a new study. The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers and ultimately effective interventions for autism spectrum disorder.

Where is this study taking place?
Recruitment is for a study at University of California at Los Angeles.

Who is the Principal Investigator?
Julian A. Martinez, MD, PhD (Los Angeles)

Who is eligible to participate?
Individuals between the ages of 3 and 21 years are eligible to participate if they have been diagnosed with PTEN hamartoma tumor syndrome or autism spectrum disorder with macrocephaly.

What will we do?
The study involves five visits over a two year period. Three of the visits occur on-site at a study location. The other two visits occur as phone calls. The on-site visits include a blood draw, physical/neurological exams and behavioral testing.

What is the time commitment/cost to participate?
There is no fee to participate in this study, and there will be no financial compensation for participation in this study. 

What results are provided?
Summary score reports of behavioral testing will be provided.

Contact Information
If you are interested in learning more about this study, please contact Binh Pham at ptenucla@mednet.ucla.edu or at (310) 794-5065.

Get Involved!
Join our RDCRN Contact Registry to learn more about new and ongoing research studies, TSC news, and more. Visit: www.rdcrn.org/dsc/registry to sign up and learn more.