BBD Longitudinal Study of Osteogenesis Imperfecta
| Status: | Recruiting |
|---|---|
| Conditions: | Orthopedic |
| Therapuetic Areas: | Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 1/25/2018 |
| Start Date: | June 2015 |
| End Date: | June 2025 |
| Contact: | Dianne Dang |
| Email: | diannen@bcm.edu |
| Phone: | 713.798.6694 |
Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
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.
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.
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.
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.
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.
We found this trial at
10
sites
Baltimore, Maryland 21205
Principal Investigator: Mahim Jain, MD
Phone: 443-923-2704
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1200 Moursund Street
Houston, Texas 77030
Houston, Texas 77030
(713) 798-4951
Principal Investigator: V.Reid Sutton, MD
Phone: 713-798-6694
Baylor College of Medicine Baylor College of Medicine in Houston, the only private medical school...
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Los Angeles, California 90095
310-825-4321
Principal Investigator: Deborah Krakow, MD
Phone: 310-794-6420
University of California at Los Angeles The University of California, Los Angeles (UCLA) is an...
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3181 Southwest Sam Jackson Park Road
Portland, Oregon 97239
Portland, Oregon 97239
503 494-8311
Principal Investigator: Eric Orwoll, MD
Phone: 503-494-0225
Oregon Health and Science University In 1887, the inaugural class of the University of Oregon...
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Milwaukee, Wisconsin 53201
Principal Investigator: Peter Smith, MD
Phone: 773-385-5868
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Montreal, Quebec
Principal Investigator: Frank Rauch, MD
Phone: 514-282-7158
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535 E 70th St
New York, New York 10021
New York, New York 10021
(212) 606-1000
Principal Investigator: Cathleen Raggio, MD
Phone: 212-774-2355
Hospital for Special Surgery Founded in 1863, Hospital for Special Surgery is the nation
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Emile St
Omaha, Nebraska 68198
Omaha, Nebraska 68198
(402) 559-4000
Principal Investigator: Paul Esposito, MD
Phone: 402-559-0681
Univ of Nebraska Med Ctr A vital enterprise in the nation’s heartland, the University of...
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12502 USF Pine Drive
Tampa, Florida 33612
Tampa, Florida 33612
Principal Investigator: Danielle Gomez, MD
Phone: 813-972-2250
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111 Michigan Ave NW
Washington, District of Columbia
Washington, District of Columbia
(202) 476-5000
Principal Investigator: Laura Tosi, MD
Phone: 210-320-2157
Childrens National Medical Center As the nation’s children’s hospital, the mission of Children’s National Medical...
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