BBD Longitudinal Study of Osteogenesis Imperfecta
Açar sözlər
Mücərrəd
Təsvir
The purpose of this natural history study is to perform a long-term follow-up of a large group of people with osteogenesis imperfecta (OI). We will collect information including:
- medical history
- number of broken bones,
- surgeries done
- medications taken,
- ability to walk,
- pain
- lung function and breathing
- hearing
- bone mineral density The overall goal is to improve the health and quality of life of people with OI.
There will be a total of 1000 people with OI in this study.
We will ask you to come in every year for five years and we will do the following tests or ask you about your:
Birth History and past surgical history, Current medical history, Scoliosis evaluation, Walking ability Questionnaire, Dental Quality of Life Questionnaire, Scoliosis and fractures Quality of Life Questionnaires, Physical development evaluation, Medications you are using
We will perform a physical exam, a dental exam, assess how well your lungs are working, perform a hearing test, measure your ability to walk and get around, assess your strength and if you are able to do certain things for yourself, perform a Walk Test.
We will take the following X-rays:measure your bone density (strength) with a DEXA scan, take an X-ray of your spine, take an X-ray of your hand, take an X-ray of your jaw.
We will collect the following samples from you:
We will collect 1 teaspoon blood to study your gene, may collect skin cells with a biopsy, and collect 1 teaspoon of blood and 2 teaspoon of urine for future research on OI.
Tarixlər
Son Doğrulandı: | 03/31/2020 |
İlk təqdim: | 04/28/2015 |
Təxmini qeydiyyat təqdim edildi: | 04/28/2015 |
İlk Göndərmə: | 05/03/2015 |
Son Yeniləmə Göndərildi: | 04/06/2020 |
Son Yeniləmə Göndərildi: | 04/07/2020 |
Həqiqi Təhsilin Başlama Tarixi: | 05/31/2015 |
Təxmini İlkin Tamamlanma Tarixi: | 05/31/2025 |
Təxmini İşin Tamamlanma Tarixi: | 11/30/2025 |
Vəziyyət və ya xəstəlik
Faza
Uyğunluq Kriteriyaları
Təhsilə Uyğun Cinslər | All |
Nümunə götürmə metodu | Probability Sample |
Sağlam Könüllüləri qəbul edir | Bəli |
Kriteriyalar | Inclusion Criteria: - Natural History Study: - Have had a DNA test or skin collagen test that proves you have OI or - Your clinical history and x-rays are highly suggestive of OI, but your diagnosis has not been verified by collagen or DNA testing - Vertebral Compression Fractures component - You have a genetic change where your body makes half the normal amount of collagen. These types of genetic changes are called nonsense or frameshift mutations in COL1A1 or COL1A2 genes - Scoliosis in OI component: - You are older than 3 years of age - Dental and Craniofacial Abnormalities in OI component: - You are older than 3 years of age and agree to a dental exam and to digital photos of teeth and face being taken. Exclusion Criteria: - Natural History Study - You are can't return for study visits at least yearly - You have a condition other than OI - You have OI and a second genetic or syndromic diagnosis - Vertebral Compression Fractures component - You have used a medication such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., in the past year. - You have conditions other than OI that affects muscle and/or bone development (examples include cerebral palsy, rickets, etc.) - You have nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2. - Scoliosis in OI component: - You are unable to have spine x-rays taken. - Dental and Craniofacial Abnormalities in OI component: - You refuse the dental examination. |
Nəticə
İlkin nəticə tədbirləri
1. Natural History of OI [5 years]
İkincili Nəticə Tədbirləri
1. Incidence and progression of scoliosis in OI [5 years]
2. Vertebral compression fractures in OI HaploInsufficiency [5years]
3. Oral and craniofacial anomalies [5 years]