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Neurofibromatosis Type 1 Brain Tumor Genetic Risk

This study has been completed.
ClinicalTrials.gov Identifier:
First Posted: October 16, 2012
Last Update Posted: May 9, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Washington University School of Medicine
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 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 ]

Biospecimen Retention:   Samples With DNA
Blood or saliva samples

Enrollment: 176
Study Start Date: October 2012
Study Completion Date: May 8, 2017
Primary Completion Date: May 8, 2017 (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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01707836

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

Responsible Party: Washington University School of Medicine
ClinicalTrials.gov Identifier: NCT01707836     History of Changes
Other Study ID Numbers: 201208141
First Submitted: October 12, 2012
First Posted: October 16, 2012
Last Update Posted: May 9, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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