We conduct clinical research studies to understand NF and to develop better ways to care for people affected with NF. Participation of individuals with NF is crucial in order for the quality of care to advance. We encourage you to consider participation in the studies described below.
To learn more about the advances we are making in the care of individuals with NF, check out our recently published studies.
NF1 Genome Project (NF1GP)
The NF1 Genome Project is a one-of-a-kind DNA bank that collects blood samples from individuals with NF1. The blood samples are used to extract DNA for future research aimed at identifying children at greatest risk for specific medical problems associated with NF1. Children and adults with a diagnosis of NF1 who attend the NF Clinical Program at St. Louis Children’s Hospital are eligible for participation
NF1 Brain Trust Project (NBTP)
David H. Gutmann, MD, PhD, and his colleagues are leading the NF1 Brain Trust Project in order to discover better treatments for learning, memory and behavioral problems in people with NF1. Your participation involves donating a skin biopsy or urine sample. Your skin cells will be used to generate nerve cells for this exciting discovery project. Children and adults who attend the NF Clinical Program at St. Louis Children’s Hospital are eligible for participation.
NF1 Patient Registry Initiative (NPRI)
The NF1 Patient Registry Initiative is a 30-minute questionnaire that collects medical information from individuals with NF1 in order to better understand the range of medical and social problems experienced by children and adults with NF1. Information gained from your participation may one day help doctors develop personalized treatments that improve the quality of life for individuals living with NF1. All individuals with NF1 are eligible for participation.
View the video below for more information about the registry.
Social and behavioral health in NF1
Child psychiatrist John A. Constantino, MD, and his colleagues are leading a study to characterize the spectrum of behavioral problems seen in children and adults with NF1. Your participation involves completing an age-appropriate test, developed by Dr. Constantino, that detects social impairments seen in individuals with autism. The results of this study will be used to better identify children with NF1 who may be at risk for autism spectrum disorder.
Hypotonia and brain tumors
Physical therapist Courtney Dunn, PT, DPT, recently led a clinical study which showed that children with both NF1 and reduced muscle tone (hypotonia) were more likely to have brain tumors than were children with NF1 and normal muscle tone. These findings inspired the current prospective study to determine whether a diagnosis of hypotonia can be used to identify children with NF1 most likely to have brain tumors. Children with NF1 and low tone between the ages of 1 and 7 who attend the NF Clinical Program at St. Louis Children’s Hospital are eligible for participation.
View the video below for more information about identifying children at risk for developing brain tumors.
Maternal folate metabolism brain tumors
Kim Johnson, PhD, MPH, at the Brown School of Social Work, is leading a study to evaluate how genetic differences in women may affect the absorption of an essential vitamin, folic acid, during pregnancy and how those differences might be related to the development of brain tumors in children with NF1. Your participation involves donating blood samples from the child with NF1 as well as the biological mother and father (or a biological sibling if the father is not available). Families with a child with NF1 and a brain tumor are eligible for participation.
Eligible families who are not in the St. Louis area can call the study staff at 314-935-5117 or send an email to email@example.com for information about participation.
View the video below for more information about who is at risk for brain tumors in NF1.
Short stature in NF1
Pediatrician Abby Hollander, MD, is leading a study to determine what causes short stature in some individuals with NF1. Your participation involves having your family member’s heights measured. Families who attend the NF Clinical Program at St. Louis Children’s Hospital and have a child with NF1 between the ages of 3 and 17 are eligible for participation.
View the video below for more information about whether children with NF1 are shorter than average.