Neurofibromatosis Type 1 (NF1) & Tibial Dysplasia

Status Completed

Clinical Trial Summary

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.

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00303368
Study type	Observational
Source	Shriners Hospitals for Children
Contact
Status	Completed
Phase
Start date	March 2004
Completion date	January 2016

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Neurofibromatosis Type 1 (NF1) and Tibial Dysplasia — NF1TD

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms