Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001594
Status:
COMPLETED
Last Update Posted:
2024-07-12
First Post:
1999-11-03
Brief Title:
Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Evaluation and Intervention for Ambulation Growth and Basilar Invagination in Osteogenesis Imperfecta
Status:
COMPLETED
Status Verified Date:
2024-08-16
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 25 years A consistent objective throughout this study is to obtain a comprehensive assessment of the natural history and progression of the multiple secondary features of osteogenesis imperfecta In addition to radiographic bone density physical rehabilitation and dental manifestations we will assess the cardiovascular pulmonary neurological and audiology systems
The major objectives of this protocol focus on rehabilitation and physical therapy studies pulmonary and cardiovascular function neurological features audiological studies and genetic and molecular biology aspects of OI A major objective in this study is to expand the intensive rehabilitation and physical therapy studies of children with types III and IV OI This objective continues the work that has been done in the Rehabilitation Department of the Clinical Center for the past 20 years on these patients However the focus of this objective is changing to include studies of scoliosis and its effect on function studies of chest proportions and rib deformities and studies of nonkinetic variables related to motor performance such as temperament competence coping and resilience in children with OI The second major objective is the longitudinal study of pulmonary function in children with types III and IV OI It is well known that cardiopulmonary complications are a major cause of disability and death in adults with OI the developmental patterns of these complications and whether susceptible individuals can be identified in childhood is unknown The third major objective of these studies of secondary features is to determine the incidence of basilar invagination and develop a monitoring and management plan for this neurological feature Next the prevalence severity age of onset and genotypicphenotypic correlation of hearing loss among children with types II and IV OI remains poorly understood therefore the study of audiological features is our fourth major objective The final major objective in this study is the continued study of the genetic and molecular biology aspect of OI Patients will have skin biopsies for collagen studies at the biochemical and molecular level Parents will have blood drawn for determination of mosaic status for the mutation that causes their child s OI These studies will provide further information on genotypephenotype correlation and other variables in OI genetics As appropriate bone chips from emergency or elective surgical procedures on the participants will be used to study osteoblast function in OI
The major objectives of this protocol focus on rehabilitation and physical therapy studies pulmonary and cardiovascular function neurological features audiological studies and genetic and molecular biology aspects of OI A major objective in this study is to expand the intensive rehabilitation and physical therapy studies of children with types III and IV OI This objective continues the work that has been done in the Rehabilitation Department of the Clinical Center for the past 20 years on these patients However the focus of this objective is changing to include studies of scoliosis and its effect on function studies of chest proportions and rib deformities and studies of nonkinetic variables related to motor performance such as temperament competence coping and resilience in children with OI The second major objective is the longitudinal study of pulmonary function in children with types III and IV OI It is well known that cardiopulmonary complications are a major cause of disability and death in adults with OI the developmental patterns of these complications and whether susceptible individuals can be identified in childhood is unknown The third major objective of these studies of secondary features is to determine the incidence of basilar invagination and develop a monitoring and management plan for this neurological feature Next the prevalence severity age of onset and genotypicphenotypic correlation of hearing loss among children with types II and IV OI remains poorly understood therefore the study of audiological features is our fourth major objective The final major objective in this study is the continued study of the genetic and molecular biology aspect of OI Patients will have skin biopsies for collagen studies at the biochemical and molecular level Parents will have blood drawn for determination of mosaic status for the mutation that causes their child s OI These studies will provide further information on genotypephenotype correlation and other variables in OI genetics As appropriate bone chips from emergency or elective surgical procedures on the participants will be used to study osteoblast function in OI
Detailed Description:
We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 30 years A consistent objective throughout this study is to obtain a comprehensive assessment of the natural history and progression of the multiple secondary features of osteogenesis imperfecta In addition to radiographic bone density physical rehabilitation and dental manifestations we will assess the cardiovascular pulmonary neurological and audiology systems
The major objectives of this protocol focus on rehabilitation and physical therapy studies pulmonary and cardiovascular function neurological features audiological studies and genetic and molecular biology aspects of OI A major objective in this study is to expand the intensive rehabilitation and physical therapy studies of children with types III and IV OI This objective continues the work that has been done in the Rehabilitation Department of the Clinical Center for the past 20 years on these patients However the focus of this objective is changing to include studies of scoliosis and its effect on function studies of chest proportions and rib deformities and studies of nonkinetic variables related to motor performance such as temperament competence coping and resilience in children with OI The second major objective is the longitudinal study of pulmonary function in children with types III and IV OI It is well known that cardiopulmonary complications are a major cause of disability and death in adults with OI the developmental patterns of these complications and whether susceptible individuals can be identified in childhood is unknown The third major objective of these studies of secondary features is to determine the incidence of basilar invagination and develop a monitoring and management plan for this neurological feature Next the prevalence severity age of onset and genotypicphenotypic correlation of hearing loss among children with types II and IV OI remains poorly understood therefore the study of audiological features is our fourth major objective The final major objective in this study is the continued study of the genetic and molecular biology aspect of OI Patients will have skin biopsies for collagen studies at the biochemical and molecular level Parents will have blood drawn for determination of mosaic status for the mutation that causes their child s OI These studies will provide further information on genotypephenotype correlation and other variables in OI genetics As appropriate bone chips from emergency or elective surgical procedures on the participants will be used to study osteoblast function in OI
The major objectives of this protocol focus on rehabilitation and physical therapy studies pulmonary and cardiovascular function neurological features audiological studies and genetic and molecular biology aspects of OI A major objective in this study is to expand the intensive rehabilitation and physical therapy studies of children with types III and IV OI This objective continues the work that has been done in the Rehabilitation Department of the Clinical Center for the past 20 years on these patients However the focus of this objective is changing to include studies of scoliosis and its effect on function studies of chest proportions and rib deformities and studies of nonkinetic variables related to motor performance such as temperament competence coping and resilience in children with OI The second major objective is the longitudinal study of pulmonary function in children with types III and IV OI It is well known that cardiopulmonary complications are a major cause of disability and death in adults with OI the developmental patterns of these complications and whether susceptible individuals can be identified in childhood is unknown The third major objective of these studies of secondary features is to determine the incidence of basilar invagination and develop a monitoring and management plan for this neurological feature Next the prevalence severity age of onset and genotypicphenotypic correlation of hearing loss among children with types II and IV OI remains poorly understood therefore the study of audiological features is our fourth major objective The final major objective in this study is the continued study of the genetic and molecular biology aspect of OI Patients will have skin biopsies for collagen studies at the biochemical and molecular level Parents will have blood drawn for determination of mosaic status for the mutation that causes their child s OI These studies will provide further information on genotypephenotype correlation and other variables in OI genetics As appropriate bone chips from emergency or elective surgical procedures on the participants will be used to study osteoblast function in OI
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 97-CH-0064 | None | None | None |