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

Study Description

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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 Design

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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

Groups and Cohorts

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Outcome Measures

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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.

Eligibility Criteria

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Ages Eligible for Study:	Child, Adult, Senior
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.

Criteria

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

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Jeanne A Siebert, MBA	801-536-3601	jsiebert@shrinenet.org
Contact: Susan J Geyer, BA	801-536-3561	sgeyer@shrinenet.org

Locations

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 jsiebert@shrinenet.org
Contact: Susan J Geyer, BA 801-536-3561 sgeyer@shrinenet.org
Principal Investigator: Jacques D'Astous, MD

Sponsors and Collaborators

Shriners Hospitals for Children

University of Utah

Investigators

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

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	John C. Carey, MD, Shriners Hospitals for Children
ClinicalTrials.gov Identifier:	NCT00303368 History of Changes
Other Study ID Numbers:	9165
First Posted:	March 16, 2006
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:

Neurofibromatoses; Neurofibromatosis 1; Hyperplasia; Neurofibroma; Pathologic Processes; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary	Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neuromuscular Diseases; Peripheral Nervous System Neoplasms; Nervous System Neoplasms