BBD Longitudinal Study of Osteogenesis Imperfecta

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状態募集

スポンサー

Baylor College of Medicine

共同編集者

Shriners Hospitals for Children

Hospital for Special Surgery, New York

Children's National Research Institute

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

University of California, Los Angeles

Oregon Health and Science University

University of Nebraska

臨床試験: NCT02432625

BioSeek: nct02432625

キーワード

概要

Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. Individuals with the most severe type of OI may die at birth. People with severe OI who survive may have bowed arms and legs, very short stature and be unable to walk. People with the mildest form of OI may only break bones occasionally and have normal height and lifespan. People with OI also often have problems with the spine. The spine problems include compression fractures and scoliosis (a curvature of the spine). DI is characterized by grey or brown teeth that may chip and wear down and break easily.

Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. In the past decade, it was discovered that in about 5% of people with OI it is in another gene. Some doctors now classify OI both on how severe it is as well as which gene is causing OI.

Our research aims are:

1. Perform DNA testing and collect natural history data on all individuals enrolled in this longitudinal study. The genetic cause of the brittle bone disease will be compared with things like severity, various features and response to treatments.

2. We will see how often people with type I OI have vertebral compression fractures of the spine. We will do x-rays to see how often they get compression fractures of the vertebrae, what happens over time and any risk factors that increase the risk of these compression fractures.

3. We will follow people with all forms of OI to see how often they develop scoliosis (curvature of the spine). We will look at the effects of scoliosis on lung function, ability to walk and quality of life. We will also look at the effects of various treatments (bracing, surgery, etc.) on scoliosis and lung function.

4. We will look at dental health in people with OI. We will see how often people with OI have problems with teeth alignment. Importantly, we will see how dental health impacts a person's quality of life.

説明

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.

日付

最終確認済み:	03/31/2020
最初に提出された:	04/28/2015
提出された推定登録数:	04/28/2015
最初の投稿:	05/03/2015
最終更新が送信されました:	04/06/2020
最終更新日:	04/07/2020
実際の研究開始日:	05/31/2015
一次完了予定日:	05/31/2025
研究完了予定日:	11/30/2025

状態または病気

Osteogenesis Imperfecta

段階

適格基準

研究に適格な性別	All
サンプリング方法	Probability Sample
健康なボランティアを受け入れる	はい
基準	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.

結果

主な結果の測定

1. Natural History of OI [5 years]

The molecular basis of the brittle bone disease will be correlated with phenotype, disease progression and response to current standard of care therapies.

二次的な結果の測定

1. Incidence and progression of scoliosis in OI [5 years]

Incidence and progression of scoliosis in OI analyzed by subtype and assessment of therapeutic interventions

2. Vertebral compression fractures in OI HaploInsufficiency [5years]

Number and location of Vertebral compression fractures in OI-HI

3. Oral and craniofacial anomalies [5 years]

incidence and progression of oral and craniofacial

BBD Longitudinal Study of Osteogenesis Imperfecta

キーワード

脊椎側湾症

骨形成不全症

hearing loss

dentinogenesis imperfecta

概要

説明

日付

状態または病気

段階

適格基準

結果

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