Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With NF1

Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1

A physical training program will improve quality of life, participation in physical activity, motor coordination, muscle strength, and bone and muscle strength in children with neurofibromatosis type 1.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis Type 1
• Intervention / Treatment: Other: Plyometric training program

Detailed Description

Disorders of the Ras pathway have significant phenotypic overlap and include Noonan syndrome, Cardiofaciocutaneous syndrome (CFC syndrome), Legius syndrome, Costello syndrome and neurofibromatosis type 1 (NF1). NF1 is one of the most common genetic disorders presenting in childhood with an incidence of 1/3000. NF1 is associated with skeletal abnormalities such as short stature, scoliosis, and long bone fracture with non-union. We recently reported that children with NF1 have abnormalities of bone and muscle architecture as evidenced by decreased bone mineral density, decreased bone strength, and low muscle mass, all of which may predispose them to fractures and scoliosis (Stevenson et al., 2005, 2007, 2009). Our preliminary data show that children with NF1 have poor motor coordination and muscle strength, potentially secondary to abnormal neuromotor learning. We hypothesize that poor motor coordination and decreased muscle strength contribute to the osteopenia in NF1. Our objective is to identify effective and non-invasive strategies to improve motor coordination, muscle strength, and bone and muscle architecture in children with disorders of the Ras pathway, in hopes of decreasing fractures and improving physical activity levels. Plyometric physical training consists of quick, high-intensity, weight-bearing movements, and is an encouraging intervention for use in these children.

• Study Type: Interventional
• Enrollment (Actual): 36
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • University of Utah
    • Salt Lake City, Utah, United States, 84103
      • Shriners Hospitals for Children, Salt Lake City

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 17 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Fulfill NIH clinical diagnostic criteria

Exclusion Criteria:

• Visual impairment
• Participation in a simultaneous medical intervention trial
• Orthopedic procedure within the last 6 months.
• Pregnancy
• Home location greater than 3-4 hours drive time from Shriners Hospital
• Tibial pseudarthrosis

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: Plyometric physical training; Individualized plyometric training program to increase strength, coordination, and bone density.	Other: Plyometric training program; The intervention is a year long individualized plyometric exercise training program. Examples of plyometric activities include jumping, hopping, running, and throwing. The number of plyometric exercises will increase gradually to prevent over training to a total of five lower extremity exercises and five upper extremity exercises
No Intervention: Control Group; This group will have no intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Bone & muscle quality, DXA, pQCT, & bone ultrasound.	1 year

Secondary Outcome Measures

Outcome Measure	Time Frame
Motor proficiency BOT-2. Muscle strength force plate & dynamometer. Quality of life questionnaires.	1 year

Collaborators and Investigators

• Sponsor: Shriners Hospitals for Children
• Collaborators: University of Utah; Thrasher Research Fund
• Investigators: Principal Investigator: David Stevenson, MD, Shriners Hospitals for Children

Study record dates

Study Major Dates

• Study Start: February 1, 2010
• Primary Completion (Actual): February 1, 2014
• Study Completion (Actual): February 1, 2014

Study Registration Dates

• First Submitted: January 26, 2010
• First Submitted That Met QC Criteria: January 27, 2010
• First Posted (Estimate): January 28, 2010

Study Record Updates

• Last Update Posted (Actual): March 23, 2021
• Last Update Submitted That Met QC Criteria: March 18, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Keywords: NF1; Neurofibromatosis type 1
• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma
• Other Study ID Numbers: SLC00038711

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No