Clinical trial NCT01058330: 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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Neurofibromatosis Type 1
Keywords: Neurofibromatosis type 1
NF1
Lead sponsor: Shriners Hospitals for Children
Sponsor class: OTHER
Collaborators: name: Thrasher Research Fund
name: University of Utah
First posted: 2010-01-28
Enrollment: 36
Sex: ALL
Minimum age (years): 4
Maximum age (years): 19
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: PREVENTION

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.

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

Primary outcomes:
measure: Bone & muscle quality, DXA, pQCT, & bone ultrasound.
timeFrame: 1 year
Secondary outcomes:
measure: Motor proficiency BOT-2. Muscle strength force plate & dynamometer. Quality of life questionnaires.
timeFrame: 1 year
Other outcomes:
Locations:
city: Salt Lake City
country: United States
facility: Shriners Hospitals for Children, Salt Lake City
state: Utah
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
Study officials:
affiliation: Shriners Hospitals for Children
name: David Stevenson, MD
role: PRINCIPAL_INVESTIGATOR
References: