Clinical trial NCT00667836: Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
Official title: Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurofibromatosis Type 1
Keywords: Neurofibromatosis Type 1
NF1
Spinal Anomalies
Lead sponsor: Shriners Hospitals for Children
Sponsor class: OTHER
First posted: 2008-04-28
Enrollment: 300
Sex: ALL
Minimum age (years): 3
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All 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.

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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Salt Lake City
country: United States
facility: Shriners Hospitals for Children, Salt Lake City
state: Utah
Study officials:
affiliation: Shriners Hospitals for Children
name: Jacques D'Astous, M.D.
role: PRINCIPAL_INVESTIGATOR
References: