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 : Active, not recruiting
First Posted : September 2, 2010
Last Update Posted : March 14, 2018
Information provided by (Responsible Party):
Christopher Peters, University of Utah

August 31, 2010
September 2, 2010
March 14, 2018
January 2010
August 2019   (Final data collection date for primary outcome measure)
Analyze whole exome sequencing for causative mutation(s) in Fibrodysplasia Ossificans Progressiva (FOP) and other genetic variations. [ Time Frame: one year ]
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Complete list of historical versions of study NCT01193673 on Archive Site
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Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)
Discovering the Gene(s) Causing Developmental Dysplasia of the Hip
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.

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.

Observational Model: Case-Only
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
DNA samples are kept
Probability Sample
Patients who have been diagnosed with hip dysplasia and their family members.
Hip Dysplasia
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Active, not recruiting
August 2019
August 2019   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
7 Years to 90 Years   (Child, Adult, Older Adult)
Contact information is only displayed when the study is recruiting subjects
United States
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Christopher Peters, University of Utah
University of Utah
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Principal Investigator: Christopher Peters, MD University of Utah Orthopaedic Center
University of Utah
March 2018