Genetic Mechanisms and Additional Risk Factors Underlying Hip Dysplasia

NCT04563819 | Completed

• 2 other identifiers: REK 24714REK 20594
• Study Type: observational
• Target: 1,779
• Locations: 0 countries
• Sites: N/A

Brief Summary

Hip Dysplasia, or Developmental dysplasia of the hip (DDH) is a congenital disorder of the hip joint characterized by a shallow, or dysplastic hip socket, with potential risks of developing progressive joint dislocation, early osteoarthritis from young adulthood and serious functional disability. The Hip Cohort Study is the first longitudinal, population-based hip "phenobank" which includes standardized ultrasound examinations of the newborn hip, radiographs at skeletal maturity (around 19 years), as well as clinical data and DNA samples from the participants. The combination of genetic analyses with the rich radiological and clinical data collected at different life stages during the first two decades of life will enable identification of biological pathways (advanced genetic analyses) that are significantly associated with different radiological indices of hip dysplasia. This will allow for early, targeted treatment of the DDH disease and thus reduce the risk of later osteoarthritis.

Conditions

Developmental Dysplasia of the Hip

Outcome Measures

Primary Outcomes (1)

• Genetic factors underlying DDH

  identify the biological pathways underlying the different radiological features of DDH.

  Analyses performed within 2024

Study Arms (3)

Newborns with DDH

Newborns (born 1988-90) with sonographic hip dysplasia (DDH)

Genetic: Genom-wide association study (GWAS) and biological pathway analyses

Newborns without DDH

Newborns (born 1988-90) without sonographic hip dysplasia (DDH)

Genetic: Genom-wide association study (GWAS) and biological pathway analyses

Hip dysplasia at skeletal maturity

Subjects that show signs of acetabular dysplasia at skeletal maturity (age 17-19 years), in 2007-09, when hip radiographs and salivary samples were collected.

Genetic: Genom-wide association study (GWAS) and biological pathway analyses

Interventions

Genom-wide association study (GWAS) and biological pathway analyses GENETIC

Hip dysplasia at skeletal maturity; Newborns with DDH; Newborns without DDH

Eligibility Criteria

• Gender Eligibility Details: self-reported, and hospital records
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Clinical and radiological assessments of 2380 18/19-year-olds (60.5% females) drawn from the Bergen Birth Hip Cohort Study (ClinicalTrials.gov ID: NCT01818934) were carried out at Haukeland University Hospital during 2007-2009. Genetic samples are available on 1779 of these participants, all of whom have been assessed radiologically and clinically at 18/19 years.

You may qualify if:

• Clinical and radiological follow up of Hip Cohort Study members born during 1989 (n=4004, response rate 52%) and those revealing sonographically immature or dysplastic hips in the newborn period during 1988 and 1990 (n= 480, response rate 67.7%) was performed during 2007- 2009, thereby enabling characterisation of DDH in 2406 subjects. Of these, 2380 had satisfying hip radiographs and clinical data.
• In 1779 of these, salivary samples were collected with consent.

You may not qualify if:

• No salivary sample available.

Sponsors & Collaborators

• Helse-Bergen HF: lead
• University Hospital of North Norway: collaborator
• Helse Forde: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

Salivary samples were collected with consent, and DNA was extracted and stored in Professor Bill Ollier's laboratory at the University of Manchester.

MeSH Terms

Conditions

Developmental Dysplasia of the Hip

Interventions

Genome-Wide Association Study

Condition Hierarchy (Ancestors)

Hip Dislocation; Joint Dislocations; Joint Diseases; Musculoskeletal Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Epidemiologic Research Design; Epidemiologic Methods; Investigative Techniques; Molecular Epidemiology; Genetic Association Studies; Genetic Techniques; Oligonucleotide Array Sequence Analysis; Sequence Analysis; Public Health; Environment and Public Health

Study Officials

• Karen Rosendahl, MD PhD

  University Hospital of North Norway, The Arctic University of Northern Norway

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Postdoctoral fellow, radiology.

Study Record Dates

• First Submitted: September 21, 2020
• First Posted: September 24, 2020
• Study Start: March 1, 2007
• Primary Completion: March 1, 2009
• Study Completion: March 1, 2009
• Last Updated: September 24, 2020

Record last verified: 2020-09

Data Sharing

• IPD Sharing: Will not share