Urinary Biomarkers of OI Pathobiology

NCT02531087 | Active Not Recruiting

• 1 other identifier: 37358
• Study Type: observational
• Target: 25
• Locations: 2 countries
• Sites: 7

Brief Summary

Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. 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. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.

Conditions

Osteogenesis Imperfecta

Outcome Measures

Primary Outcomes (1)

• HP/LP Ratio

  The endpoint will be to compare the HP/LP ratio in OI patients with collagen overmodification (dominant negative mutations in COL1A1, COL1A2, and biallelic mutations in CRTAP, LEPRE1, PPIB) to those without overmodification (FKBP10, SERPINH1, IFITM5, SERPINF1, WNT1, and haploinsufficient mutations in COL1A1 and COL1A2).

  5 Years

Secondary Outcomes (1)

• HP/LP ratio

  5 Years

Study Arms (2)

Individuals with OI

Individuals with OI with confirmed specific genetic mutations

Controls/Unaffected

Individuals who do not have OI and who are not related to an individual with OI

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with OI

You may qualify if:

• To be able to participate, you must:
• Be enrolled in The Longitudinal Study of OI (NTC #02432625) and have one of the following genetic mutations:
• glycine substitution mutations in COL1A1 or COL1A2
• haploinsufficient mutation in COL1A1 or COL1A2
• mutations in CRTAP, PPIB, or LEPRE1
• mutations in FKBP10 or SERPINH1
• mutations in (SERPINF1, WNT1, or IFITM5)
• dominant negative glycine substitutions and haploinsufficient mutations in COL1A1, and COL1A2
• If you are serving as a control, you must not be related to an individual with OI.

You may not qualify if:

• You cannot participate if:
• You are unable to comply with the sample collection schedule.
• You are related to one of the OI subjects and would like to serve as a control subject.
• You have vertebral instrumentation or spinal deformities where we cannot assess lumbar spine aBMD.
• You have a history of recent fracture (\< 3 months).
• You have serum creatinine above 1x upper limits of normal.
• You have abnormal kidney function.
• You are using Minoxidil.
• You are unable to provide a urine sample readily.

Sponsors & Collaborators

• Baylor College of Medicine: lead
• Shriners Hospitals for Children: collaborator
• University of Nebraska: collaborator
• University of Washington: collaborator

Study Sites (7)

University of California Los Angeles

Los Angeles, California, 90095, United States

Location

University of Nebraska Medical Center

Omaha, Nebraska, 68198, United States

Location

Hospital for Special Surgery

New York, New York, 10021, United States

Location

Oregon Health Science University

Portland, Oregon, 97239, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Shriners Hospital for Children

Milwauke, Wisconsin, 53201, United States

Location

Shriners Hospital for Children

Montreal, Quebec, H3G 1A6, Canada

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Urine samples will be collected

MeSH Terms

Conditions

Osteogenesis Imperfecta

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Vernon Reid Sutton, M.D.

  Baylor College of Medicine

  PRINCIPAL INVESTIGATOR

• Frank Rauch, M.D.

  Shriners Hospital for Children

  PRINCIPAL INVESTIGATOR

• David Eyre, Ph.D.

  University of Washington

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor and Chairman

Study Record Dates

• First Submitted: August 20, 2015
• First Posted: August 24, 2015
• Study Start: August 17, 2015
• Primary Completion: August 31, 2019
• Study Completion (Estimated): August 31, 2026
• Last Updated: December 1, 2025

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (6); CA (1)