Long-term follow-up of individuals with Osteogenesis Imperfecta

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to collect extensive natural history data on individuals diagnosed with Osteogenesis Imperfecta (OI), a rare brittle bone disorder. It will follow a cohort of 1000 participants over five years, assessing various clinical features, including the frequency of vertebral compression fractures, scoliosis, and dental health impacts on quality of life. Participants will undergo regular evaluations, including physical exams, dental assessments, and imaging tests. The study seeks to establish a foundation for future clinical studies by understanding the natural progression of OI.

Why it matters

Who can join: the full rules

Natural History Study:

Inclusion Criteria:

* Individuals with OI diagnosed by molecular (DNA) analysis OR
* Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies

Exclusion criteria:

* Individuals who are unable to return for their scheduled follow up visits.
* Individuals with skeletal dysplasias other than OI
* Individuals with OI and a second genetic or syndromic diagnosis

Vertebral Compression Fractures component Inclusion criteria

• Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I.

Exclusion criteria

* Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.
* Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and/or bone development (i.e. cerebral palsy, rickets)
* Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency.

Scoliosis in OI component:

Inclusion Criteria

* All study participants between the ages of 3 to 17 years OR
* Study participants 18 years and older with scoliosis

Dental and Craniofacial Abnormalities in OI component:

Inclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study Exclusion Criteria Subjects who refuse the dental examination

Pregnancy in OI component:

Inclusion criteria

• Females of reproductive age with mutations in any known gene causing OI, who are contemplating pregnancy within 5 years of enrollment in the Natural History Study OR Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the first pregnancy visit).

Exclusion criteria

* Males
* Females who are peri-menopausal or menopausal
* Females who had gestations associated with higher order multiples.

Where it's running

• Phoenix Children's Hospital
  Phoenix, Arizona, United States Recruiting
• University of California Los Angeles
  Los Angeles, California, United States Recruiting
• AI Dupont Hospital for Children
  Wilmington, Delaware, United States Recruiting
• Children's National Medical Center
  Washington D.C., District of Columbia, United States Recruiting
• University of South Florida
  Tampa, Florida, United States Recruiting
• Kennedy Krieger Institute / Hugo W. Moser Research Institute
  Baltimore, Maryland, United States Recruiting

Study contacts

• Study coordinator: Dianne Nguyen
• Email: diannen@bcm.edu
• Phone: 713.798.6694

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Heart structure and function in children and adults with Osteogenesis Imperfecta

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• Adapted physical activity program for children and teenagers with Osteogenesis Imperfecta

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• Evaluating hearing and balance in children and young adults with Osteogenesis Imperfecta

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• Effects of bisphosphonates on hearing loss in osteogenesis imperfecta

  This study is testing if a medication called bisphosphonates can help adults with Osteogenesis Imperfecta type I who have hearing loss.

  Recruiting Phase 4 Hospital for Special Surgery, New York · New York, New York · NCT04152551

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.