Brief Title
Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
Official Title
Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
Brief Summary
We propose to establish a multi-center study to investigate the outcome of scoliosis and
spinal abnormalities in patients with NF1.
The three specific aims of this study are:
Specific Aim 1 - To assess health status and health-related quality of life (HRQL) in
children and adolescents with NF1 and scoliosis. We hypothesize that children and adolescents
with NF1 and scoliosis will experience an additional burden of morbidity due to scoliosis and
a downward trajectory of health status and HRQL over time.
Specific Aim 2 - To assess the natural history and short-term response to therapy in a cohort
of children with NF1 and scoliosis prospectively diagnosed during the course of the four-year
study period. We hypothesize that some NF1 patients with idiopathic scoliosis will modulate
to the dystrophic form. We also hypothesize that NF1 patients with earlier presentation are
more likely to have or modulate to the dystrophic form.
Specific Aim 3 - To assess biochemical markers of bone metabolism in NF1 individuals. We
hypothesize that NF1 individuals will have statistically significant differences in
biochemical markers of bone metabolism compared to controls. We also hypothesize that NF1
individuals with scoliosis will have differences in biochemical markers of bone metabolism
compared to NF1 individuals without scoliosis.
Detailed Description
The three specific aims of this study are:
Specific Aim 1 - To assess health status and health-related quality of life (HRQL) in
children and adolescents with NF1 and scoliosis. We hypothesize that children and adolescents
with NF1 and scoliosis will experience an additional burden of morbidity due to scoliosis and
a downward trajectory of health status and HRQL over time.
Specific Aim 2 - To assess the natural history and short-term response to therapy in a cohort
of children with NF1 and scoliosis prospectively diagnosed during the course of the four-year
study period. We hypothesize that some NF1 patients with idiopathic scoliosis will modulate
to the dystrophic form. We also hypothesize that NF1 patients with earlier presentation are
more likely to have or modulate to the dystrophic form.
Specific Aim 3 - To assess biochemical markers of bone metabolism in NF1 individuals. We
hypothesize that NF1 individuals will have statistically significant differences in
biochemical markers of bone metabolism compared to controls. We also hypothesize that NF1
individuals with scoliosis will have differences in biochemical markers of bone metabolism
compared to NF1 individuals without scoliosis.
Study Type
Observational
Condition
Neurofibromatosis Type 1
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
300
Start Date
March 2006
Completion Date
September 2009
Primary Completion Date
September 2009
Eligibility Criteria
Inclusion Criteria:
- Meet NIH diagnostic criteria for NF1
- Radiographic documentation of scoliosis will be necessary for inclusion as a
"scoliosis case"
- Age between 3 and 18 years
Exclusion Criteria:
- Do not have NF1
Gender
All
Ages
3 Years - 18 Years
Accepts Healthy Volunteers
No
Contacts
Jacques D'Astous, M.D., ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT00667836
Organization ID
IRB_00023261
Responsible Party
Principal Investigator
Study Sponsor
Shriners Hospitals for Children
Study Sponsor
Jacques D'Astous, M.D., Principal Investigator, Shriners Hospitals for Children
Verification Date
February 2019