Resultados cardiopulmonares en osteogénesis imperfecta: BBD7708
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.
Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Descripción general del estudio
Estado
Condiciones
Descripción detallada
This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Ubicaciones de estudio
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California
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Los Angeles, California, Estados Unidos, 90095
- University of California Los Angeles
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Maryland
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Baltimore, Maryland, Estados Unidos, 21205
- Kennedy Krieger Institute / Hugo W. Moser Research Institute
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New York
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New York, New York, Estados Unidos, 10021
- Hospital for Special Surgery
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
Individuals with Osteogenesis Imperfecta
Descripción
Inclusion Criteria:
- Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
- Individuals ages 18 and older of all races and sexes
- Individuals who have been diagnosed with OI clinically and/or genetically
Exclusion Criteria:
- Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
- Individuals with other skeletal dysplasia or genetic diagnosis
- Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: CROSS_SECTIONAL
Cohortes e Intervenciones
Grupo / Cohorte |
|---|
|
Adults with OI
18 participants will be enrolled through in this pilot study. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded. |
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
|
proportion of restrictive lung physiology
Periodo de tiempo: 12 months
|
FEV1/FVC greater than or equal to 80%, which is obtained from PFT |
12 months
|
Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
|
Presence and severity of Bronchial Wall Thickening
Periodo de tiempo: 12 months
|
measurement of percent of bronchial diameter subsumed by wall thickness |
12 months
|
|
Vital lung capacity
Periodo de tiempo: 12 months
|
Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation |
12 months
|
|
Presences of pulmonary fibrosis
Periodo de tiempo: 12 months
|
Presence of pulmonary fibrosis based on readings by trained chest CT readers |
12 months
|
|
Change in lung tissue
Periodo de tiempo: 12 months
|
location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers |
12 months
|
Otras medidas de resultado
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
|
Scoliosis
Periodo de tiempo: 12 months
|
Measurement of spinal scoliosis, kyphosis, lordosis and vertebral fractures including curve measurement based on standing plane films of thorax/abdomen exposed for bone imaging |
12 months
|
Colaboradores e Investigadores
Patrocinador
Investigadores
- Investigador principal: Vernon Sutton, MD, Baylor College of Medicine
- Silla de estudio: Kathleen Raggio, Hospital for Special Surgery, New York
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
- Enfermedades óseas
- Enfermedades musculoesqueléticas
- Enfermedades Genéticas Congénitas
- Enfermedades del tejido conectivo
- Osteocondrodisplasias
- Enfermedades óseas del desarrollo
- Enfermedades del colágeno
- Enfermedades y anomalías congénitas, hereditarias y neonatales
- Enfermedades de la piel y del tejido conectivo
- Osteogénesis imperfecta
Otros números de identificación del estudio
- H49848
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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