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Evaluation and Intervention for the Effects of Osteogenesis Imperfecta

 

This study is currently recruiting patients.

 

Purpose

We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 18 years. A consistent objective throughout this tudy 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 neurological, cardiovascular, pulmonary, and audiological systems.
The major objectives of this protocol are the study of neurological features of OI, the rehabilitation and physical therapy studies, pulmonary function studies, and genetic and molecular biology aspects of OI. One 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. A second 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, studies of obesity in children with OI, and studies of nonkinetic variables related to motor performance, such as temperament, competence, coping, and resilience in children with OI. The third 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 development of these complications, and whether susceptible individuals can be identified in childhood, is unknown. 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 genotype/phenotype 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.
Condition
Dwarfism
Osteogenesis Imperfecta

MEDLINEplus related topics: Dwarfism; Osteogenesis Imperfecta
Genetics Home Reference related topics: Dwarfism; osteogenesis imperfecta

Study Type: Observational
Study Design: Natural History

Official Title: Evaluation and Intervention for Ambulation, Growth, and Basilar Invagination in Osteogenesis Imperfecta

Further Study Details:

We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 18 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 neurological, cardiovascular, pulmonary, and audiological systems.

The major objectives of this protocol are the study of neurological features of OI, the rehabilitation and physical therapy studies, pulmonary function studies, and genetic and molecular biology aspects of OI. One 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. A second 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, studies of obesity in children with OI, and studies of nonkinetic variables related to motor performance, such as temperament, competence, coping, and resilience in children with OI. The third 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 development of these complications, and whether susceptible individuals can be identified in childhood, is unknown. 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 genotype/phenotype 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.

Eligibility

Genders Eligible for Study: Both

Criteria

INCLUSION CRITERIA:

Children will be recruited from the entire United States.

Children enrolled in this study will be limited to those with Sillence Types III and IV OI, as determined by clinical and genetic criteria.
Children who have not had skin biopsy done for collagen analysis at another facility are preferred for participation in this study. However, previous skin biopsy at another facility will not preclude participation in this protocol.
EXCLUSION CRITERIA:
Children must be able to attain at least some degree of ambulatory skill or have high potential for achieving independent locomotion with assistive technology.
Children who are clinically too severe to benefit from this program are defined by the following criteria:
(a) the ratio of head circumference age (the age for which the child's head or body size falls at the 50th percentile) to body length age (the age for which the child's length falls at the 50th percentile) is 7:1 or greater;
(b) Children who are 24 months of age, and who are unable to sit unsupported for 60 seconds and are unable to demonstrate the ability to prop themselves on upper extremities in the prone position;
(c) children who have other significant medical problems, especially severe cardiopulmonary problems, which have an impact on their physical development.
Compliance with the visit schedule, maintenance of the physical therapy program, and completion of the measurement tools are central to our analysis of the outcomes of this study. Failure to comply with these conditions will constitute exclusion criteria.

Expected Total Enrollment:116

Location and Contact Information

National Institute of Child Health and Human Development (NICHD), 9000 Rockville Pike Bethesda, Maryland, 20892, United States;Recruiting Patient Recruitment and Public Liaison Office 1-800-411-1222, prpl@mail.cc.nih.gov, TTY 1-866-411-1010

Publications

Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Pediatr. 1988;35:391-426. Review. No abstract available.

Marini JC, Bordenick S, Heavner G, Rose S, Hintz R, Rosenfeld R, Chrousos GP. The growth hormone and somatomedin axis in short children with osteogenesis imperfecta. J Clin Endocrinol Metab. 1993 Jan;76(1):251-6.

Charnas LR, Marini JC. Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology. 1993 Dec;43(12):2603-8.

Study ID Numbers: 970064; 97-CH-0064
Study Start Date: January 13, 1997

 

 

 
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