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Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)

This study is enrolling participants by invitation only.
Sponsor:
Information provided by (Responsible Party):
Christopher Peters, University of Utah
ClinicalTrials.gov Identifier:
NCT01193673
First received: August 31, 2010
Last updated: August 5, 2014
Last verified: August 2014
  Purpose

The primary objective of the study is to find the gene(s) responsible for causing DDH. The secondary objective of the study is to determine the mode of genetic transmission of DDH.


Condition
Hip Dysplasia

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Discovering the Gene(s) Causing Developmental Dysplasia of the Hip

Resource links provided by NLM:


Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Analyze whole exome sequencing for causative mutation(s) in Fibrodysplasia Ossificans Progressiva (FOP) and other genetic variations. [ Time Frame: one year ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

DNA samples are kept


Estimated Enrollment: 1000
Study Start Date: January 2010
Estimated Study Completion Date: January 2016
Estimated Primary Completion Date: January 2016 (Final data collection date for primary outcome measure)
Detailed Description:

Developmental dysplasia of the hip (DDH), formerly known as Congenital Dislocation of the Hip (CDH) is a relatively common disorder that can lead to early onset arthritis of the hip. It is believed that DDH is the major cause of arthritis of the hip in young patients. The majority of patients with DDH are unaware of their condition. Only a very small number of these patients with the extremely severe form of the disease (dislocated hip) are identified at birth. The remaining patients usually seek help when severe arthritis is present and joint preservation treatment is not possible. The exact etiology of this condition remains elusive. Based on reports in the literature, DDH is believed to have a genetic basis.

Dr. Javad Parvizi at Rothman Institute (RT) in Philadelphia has extensive experience with this condition because their center provides joint preservation procedures such as pelvic and femoral osteotomy. They also have extensive experience with hip replacement in these patients. They are aware of some families with many affected individuals. Close history taking and examination of these patients has suggested that there may indeed be a genetic basis for DDH. Based on our findings so far, we believe that a dominant pattern of inheritance may exist, implying that this disorder may be inherited in a Mendelian manner (Single gene disorder).

Furthermore, Dr. Parvizi's group have documented a peculiar pattern of dominant inheritance in which all affected males give rise to only affected female children, suggesting that the disorder may be inherited as an X-linked dominant trait. X-linked dominant is the mode of inheritance in which a gene on the X chromosome is dominant. The X-linked dominant inheritance may in part account for the large number of females affected with the trait. Understanding the inheritance mechanism of this disease will allow better genetic counseling and monitoring of affected individuals and their families.

The reason behind this study is to investigate the possible genetic inheritance of the disease. Knowing this information will allow us to test patients for the disease early and before arthritis develops. In addition it is possible that better treatments may be designed based on this knowledge.

DDH is a relatively common condition. Although the most severe form of DDH is usually diagnosed during birth (dislocated hip), the majority (>80%) of patients with this condition do not even know that they suffer from this disease and usually discover their condition when disabling arthritis of the hip develops in early adulthood.

  Eligibility

Ages Eligible for Study:   7 Years to 90 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Patients who have been diagnosed with hip dysplasia and their family members.

Criteria

Inclusion Criteria:

  • All patients with radiographic and clinical diagnosis of DDH will be included.

Exclusion Criteria:

  • Other forms of arthritis:
  • osteoarthritis
  • inflammatory arthropathies
  • vascular necrosis
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01193673

Locations
United States, Utah
University of Utah Orthopaedic Center
Salt Lake City, Utah, United States, 84108
Sponsors and Collaborators
University of Utah
Investigators
Principal Investigator: Christopher Peters, MD University of Utah Orthopaedic Center
  More Information

No publications provided

Responsible Party: Christopher Peters, M.D., University of Utah
ClinicalTrials.gov Identifier: NCT01193673     History of Changes
Other Study ID Numbers: 35439
Study First Received: August 31, 2010
Last Updated: August 5, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Hip Dislocation, Congenital
Congenital Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on November 20, 2014