Neurofibromatosis Type 1 (NF1) and Tibial Dysplasia (NF1TD)

February 21, 2019 updated by: Jacques D'Astous, Shriners Hospitals for Children

Multicenter Study of Tibial Dysplasia in Neurofibromatosis Type I (NF1) Patients

The study is a multicenter four-year outcome study of the natural history of tibial dysplasia in patients with NF1 and selected patients without NF1. We will obtain information on the natural history, burden, functional and health status, health-related quality of life, and surgical interventions/outcomes of tibial dysplasia. The project will also establish a Core Facility (NOCF) for tissue samples for future studies.

Study Overview

Status

Completed

Conditions

Detailed Description

The three specific aims of this study are:

  • Specific Aim 1 - To assess health status and health - related quality of life (HRQL) in 50 children and adolescents with NF1 and tibial dysplasia and in NF1 controls. We hypothesize that children and adolescents with NF1 and tibial dysplasia will experience an additional burden of morbidity due to tibial dysplasia and a downward trajectory of health status and HRQL over time.
  • Specific Aim 2 - To assess the long term outcome of current treatment in 100 adult patients diagnosed with NF1 and tibial dysplasia in childhood. We hypothesize that better quality of life and function, in adults with NF1 and tibial dysplasia, are associated with amputation in childhood compared to multiple surgical procedures, the lack of fibular involvement, and fracture later in childhood. We also hypothesize that individuals with NF1 and tibial dysplasia have a higher risk of other bony dysplasias but are at no higher risk of fracture in other bones.
  • Specific Aim 3 - To assess the natural history and short-term response to therapy in a cohort of at least 60 children with NF1 and tibial dysplasia and at least 60 children with tibial dysplasia presumably without NF1 prospectively diagnosed during the course of the four-year study period. We hypothesize that NF1 patients with earlier presentation, Crawford Class II A-C, male gender, and the lack of bracing prior to age two are more likely to fracture. We also postulate that individuals with and without NF1 have a similar outcome and response to treatment.

The results of this project will provide a rational basis for future clinical and therapeutic trials.

Study Type

Observational

Enrollment (Actual)

395

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Utah
      • Salt Lake City, Utah, United States, 84103
        • Shriners Hospitals for Children, Intermountain Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Adults and children with NF1, with or without Tibial Dysplasia, ages 3+ and individuals ages birth through 18 with Tibial Dysplasia, with or without NF1.

Description

Inclusion Criteria:

  • Aim 1:

    • Group 1, NF1 with Tibial Dysplasia, Ages: 3-18
    • Group 2 (control), NF1 without Tibial Dysplasia, Ages 3-18
  • Aim 2: NF1 with Tibial Dysplasia, 19+
  • Aim 3: Tibial Dysplasia with or without NF1, Ages: birth to 18
  • Tissue procurement, any participant undergoing surgery at the tibial site for routine standard of care

Exclusion Criteria:

  • Patients without a diagnosis of NF1 or Tibial Dysplasia

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Shriners Hospitals for Children

Collaborators

University of Utah

Investigators

  • Principal Investigator: John C Carey, MD, MPH, University of Utah, Health Science Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

March 1, 2004

Primary Completion (ACTUAL)

January 1, 2014

Study Completion (ACTUAL)

January 1, 2016

Study Registration Dates

First Submitted

March 14, 2006

First Submitted That Met QC Criteria

March 14, 2006

First Posted (ESTIMATE)

March 16, 2006

Study Record Updates

Last Update Posted (ACTUAL)

February 25, 2019

Last Update Submitted That Met QC Criteria

February 21, 2019

Last Verified

February 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 9165 (Other Identifier: CTEP)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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