Brief Title
Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With NF1
Official Title
Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1
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.
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
Primary Outcome
Bone & muscle quality, DXA, pQCT, & bone ultrasound.
Secondary Outcome
Motor proficiency BOT-2. Muscle strength force plate & dynamometer. Quality of life questionnaires.
Condition
Neurofibromatosis Type 1
Intervention
Plyometric training program
Study Arms / Comparison Groups
Plyometric physical training
Description: Individualized plyometric training program to increase strength, coordination, and bone density.
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
36
Start Date
February 2010
Completion Date
February 2014
Primary Completion Date
February 2014
Eligibility Criteria
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
Gender
All
Ages
4 Years - 19 Years
Accepts Healthy Volunteers
No
Contacts
David Stevenson, MD, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT01058330
Organization ID
SLC00038711
Responsible Party
Principal Investigator
Study Sponsor
Shriners Hospitals for Children
Collaborators
Thrasher Research Fund
Study Sponsor
David Stevenson, MD, Principal Investigator, Shriners Hospitals for Children
Verification Date
March 2021