Genetic Influences on Pediatric Brain Tumor Development in Neurofibromatosis Type 1

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Washington University School of Medicine
Information provided by (Responsible Party):
Washington University School of Medicine Identifier:
First received: October 12, 2012
Last updated: November 21, 2013
Last verified: November 2013

This study will analyze DNA samples to determine associations between maternal and offspring genetic factors and pediatric brain tumor development in children with Neurofibromatosis Type 1. Participating families (mother, father, child) will be asked to complete a short questionnaire and provide DNA samples (either saliva or blood). The information gained from your participation may one day help doctors develop strategies to reduce brain tumor risk in individuals with NF1. Please note: there is no therapy associated with this study.

Neurofibromatosis Type 1
Pediatric Brain Tumor

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Variation in the Folate Pathway and Risk of Pediatric Brain Cancers

Resource links provided by NLM:

Further study details as provided by Washington University School of Medicine:

Primary Outcome Measures:
  • Brain Tumor [ Time Frame: September 1, 2012-February 1, 2014 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood or saliva samples

Estimated Enrollment: 40
Study Start Date: October 2012
Estimated Study Completion Date: December 2013
Estimated Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Families with a child with Neurofibromatosis Type 1 who has been diagnosed with a brain tumor.

Detailed Description:

The prenatal period is a developmentally vulnerable time point during which environmental conditions, including nutrition, can have life-long impacts on health.1,2 This is particularly relevant to many childhood cancers that are thought to initiate during pregnancy.3 As a consequence, there has been intense interest in whether prenatal exposures can modulate childhood cancer risk.4-6 It is important to recognize that both maternal and offspring genetic factors including those in nutritional pathways may play an important role in pediatric cancer risk through their effect on the child's exposure to nutrients important in development during the prenatal period. The purpose of this research study is to evaluate whether there are any maternal or offspring genetic factors in the folate pathway that may contribute to the development of brain tumors in children with Neurofibromatosis Type 1 through analysis of DNA samples collected from families.


Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Families will be recruited from the Washingington University Neurofibromatosis-1 (NF1) Patient Registry Initiative (NPRI) and NF Center Clinic.


Inclusion Criteria:

  • Pediatric participant (born during 1994-2012) with NF1 and diagnosed with a brain tumor
  • Biological mother or father (or full sibling if mother or father is unable to participate) able to participate
  • All family members (pediatric participant, biological mother, and biological father or full sibling) must be willing to contribute a blood or saliva sample
  • ability to understand consent forms

Exclusion Criteria:

-those who do not meet inclusion criteria

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01707836

Contact: Kimberly Johnson, PhD, MPH 314-935-9154
Contact: Nancy Mueller, MPH 314-935-5117

United States, Missouri
Washington University Recruiting
St. Louis, Missouri, United States, 63130
Principal Investigator: Kimberly J Johnson, PhD, MPH         
Sponsors and Collaborators
Washington University School of Medicine
Principal Investigator: Kimberly J Johnson, PhD Washington University School of Medicine
  More Information

No publications provided

Responsible Party: Washington University School of Medicine Identifier: NCT01707836     History of Changes
Other Study ID Numbers: 201208141
Study First Received: October 12, 2012
Last Updated: November 21, 2013
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Brain Neoplasms
Neurofibromatosis 1
Brain Diseases
Central Nervous System Diseases
Central Nervous System Neoplasms
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Neoplasms by Histologic Type
Neoplasms by Site
Neoplasms, Nerve Tissue
Neoplastic Syndromes, Hereditary
Nerve Sheath Neoplasms
Nervous System Diseases
Nervous System Neoplasms
Neurocutaneous Syndromes
Neurodegenerative Diseases
Neuromuscular Diseases
Peripheral Nervous System Diseases processed this record on October 22, 2014