In an effort to identify better ways to care for children and adults affected with NF1, investigators in the Washington University NF Center have several ongoing novel clinical studies, which you can participate in. Your involvement in these studies is one way for you to contribute to improving our understanding of NF1 and changing the way we care for future generations of people with this complex condition.

Transition to Adulthood in NF1

We are interested in facilitating a smooth transition for our adolescents and young adults from pediatric to adult NF care. In order to provide the best possible support for our families, we need to understand more about the barriers to transition of care. To participate in this study, you must be an active patient of the St. Louis Children’s Hospital NF Clinical Program (Drs. David Gutmann or Sheel Pathak) and be at least 14 years of age or older. During your yearly medical visits, you will be asked to complete a brief assessment and identify a new goal important for transition.

Circulating Tumor DNA for Early Response Assessment of Solid Tumors

This study ( NCT04354064) was initiated by Dr. Angela Hirbe and Dr. Aadel Chaudhuri in 2020. To participate, both healthy subjects and those with NF1-associated peripheral nerve sheath tumors would consent to providing blood samples to detect circulating tumor DNA (ctDNA). Early results from this study show that ctDNA can detect tumor progression before changes are found on imaging studies.

NF1 Genome Project

This study was established by Dr. David Gutmann in 2011. To participate, you would consent to providing blood or cheek swab samples to prepare DNA for genomic studies.  Insights from this study have revealed new genomic risk factors for optic pathway gliomas and autism in children with NF1.

NF1 Brain Trust

This study was started by Dr. David Gutmann and Dr. Corina Anastasaki in 2012. To participate, you would consent to providing a blood sample to generate cell lines, which Dr. Anastasaki and colleagues use to study normal human brain development and human tumor formation. Insights from this study have already yielded new ways to create humanized models of brain and nerve tumors, as well as novel insights into autism, in children and young adults with NF1.