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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01193673
Recruitment Status : Completed
First Posted : September 2, 2010
Last Update Posted : October 23, 2019
Information provided by (Responsible Party):
Christopher Peters, University of Utah

Brief Summary:
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 or disease
Hip Dysplasia

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.

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Study Type : Observational
Actual Enrollment : 160 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Discovering the Gene(s) Causing Developmental Dysplasia of the Hip
Study Start Date : January 2010
Actual Primary Completion Date : July 2019
Actual Study Completion Date : July 2019

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Analyze whole exome sequencing for causative mutation(s) in Fibrodysplasia Ossificans Progressiva (FOP) and other genetic variations. [ Time Frame: one year ]

Biospecimen Retention:   Samples With DNA
DNA samples are kept

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years to 90 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients who have been diagnosed with hip dysplasia and their family members.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01193673

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United States, Utah
University of Utah Orthopaedic Center
Salt Lake City, Utah, United States, 84108
Sponsors and Collaborators
University of Utah
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Principal Investigator: Christopher Peters, MD University of Utah Orthopaedic Center
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Responsible Party: Christopher Peters, M.D., University of Utah Identifier: NCT01193673    
Other Study ID Numbers: 35439
First Posted: September 2, 2010    Key Record Dates
Last Update Posted: October 23, 2019
Last Verified: October 2019
Additional relevant MeSH terms:
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Hip Dislocation
Hip Dislocation, Congenital
Joint Dislocations
Joint Diseases
Musculoskeletal Diseases
Wounds and Injuries
Hip Injuries
Musculoskeletal Abnormalities
Congenital Abnormalities