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

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: NCT01058330
Recruitment Status : Completed
First Posted : January 28, 2010
Last Update Posted : November 19, 2014
Thrasher Research Fund
University of Utah
Information provided by (Responsible Party):
David Stevenson, MD, Shriners Hospitals for Children

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Neurofibromatosis Type 1 Other: Plyometric training program Not Applicable

Detailed Description:
Disorders of the Ras pathway have significant phenotypic overlap and include Noonan 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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 35 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Official Title: Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1
Study Start Date : February 2010
Actual Primary Completion Date : February 2014
Actual Study Completion Date : February 2014

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 5 lower extremity exercises and 5 upper extremity exercises

No Intervention: Control Group
This group will have no intervention

Primary Outcome Measures :
  1. Bone & muscle quality, DXA, pQCT, & bone ultrasound. [ Time Frame: 1 year ]

Secondary Outcome Measures :
  1. Motor proficiency BOT-2. Muscle strength force plate & dynamometer. Quality of life questionnaires. [ Time Frame: 1 year ]

Information from the National Library of Medicine

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Ages Eligible for Study:   4 Years to 19 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

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): NCT01058330

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United States, Utah
Shriners Hospitals for Children, Salt Lake City
Salt Lake City, Utah, United States, 84103
University of Utah
Salt Lake City, Utah, United States, 84132
Sponsors and Collaborators
Shriners Hospitals for Children
Thrasher Research Fund
University of Utah
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Principal Investigator: David Stevenson, MD Shriners Hospitals for Children

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Responsible Party: David Stevenson, MD, Assistant Professor, Division of Medical Genetics, University of Utah, Shriners Hospitals for Children Identifier: NCT01058330    
Other Study ID Numbers: SLC00038711
First Posted: January 28, 2010    Key Record Dates
Last Update Posted: November 19, 2014
Last Verified: November 2014
Keywords provided by David Stevenson, MD, Shriners Hospitals for Children:
Neurofibromatosis type 1
Additional relevant MeSH terms:
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Neurofibromatosis 1
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
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