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

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. Identifier: NCT00303368
Recruitment Status : Unknown
Verified May 2008 by Shriners Hospitals for Children.
Recruitment status was:  Recruiting
First Posted : March 16, 2006
Last Update Posted : May 23, 2008
University of Utah
Information provided by:
Shriners Hospitals for Children

Brief 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.

Condition or disease
Neurofibromatosis Type 1 Tibial Dysplasia

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
Estimated Enrollment : 420 participants
Official Title: Multicenter Study of Tibial Dysplasia in Neurofibromatosis Type I (NF1) Patients
Study Start Date : March 2004
Estimated Study Completion Date : December 2008

Biospecimen Retention:   Samples With DNA
If the enrollee's private physician includes surgery in the management of his/her disorder, and if tissue is removed to be discarded, permission is obtained to store the specimen in a tissue repository for future research.

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:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

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 identifier (NCT number): NCT00303368

Contact: Jeanne A Siebert, MBA 801-536-3601
Contact: Susan J Geyer, BA 801-536-3561

United States, Utah
Shriners Hospitals for Children, Intermountain Hospital Recruiting
Salt Lake City, Utah, United States, 84103
Contact: Jeanne A Siebert, MBA    801-536-3601   
Contact: Susan J Geyer, BA    801-536-3561   
Principal Investigator: Jacques D'Astous, MD         
Sponsors and Collaborators
Shriners Hospitals for Children
University of Utah
Principal Investigator: John C Carey, MD, MPH University of Utah, Health Science Center

Responsible Party: John C. Carey, MD, Shriners Hospitals for Children Identifier: NCT00303368     History of Changes
Other Study ID Numbers: 9165
First Posted: March 16, 2006    Key Record Dates
Last Update Posted: May 23, 2008
Last Verified: May 2008

Keywords provided by Shriners Hospitals for Children:
Neurofibromatosis (NF1)
Tibial Dysplasia (TD)

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