Neurofibromatosis Type 1 (NF1) and Tibial Dysplasia

NCT00303368 | Completed DMC

• 1 other identifier: 9165
• Study Type: observational
• Target: 395
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis Type 1; Tibial Dysplasia

Keywords

Neurofibromatosis (NF1); Tibial Dysplasia (TD)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Patients without a diagnosis of NF1 or Tibial Dysplasia

Sponsors & Collaborators

• Shriners Hospitals for Children: lead
• University of Utah: collaborator

Study Sites (1)

Shriners Hospitals for Children, Intermountain Hospital

Salt Lake City, Utah, 84103, United States

Location

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.

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibromatoses

Condition Hierarchy (Ancestors)

Neurofibroma; 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; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• John C Carey, MD, MPH

  University of Utah, Health Science Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 14, 2006
• First Posted: March 16, 2006
• Study Start: March 1, 2004
• Primary Completion: January 1, 2014
• Study Completion: January 1, 2016
• Last Updated: February 25, 2019

Record last verified: 2019-02

Locations

US (1)