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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

Tracking Information
First Submitted Date August 31, 2010
First Posted Date September 2, 2010
Last Update Posted Date October 23, 2019
Study Start Date January 2010
Actual Primary Completion Date July 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 5, 2014)
Analyze whole exome sequencing for causative mutation(s) in Fibrodysplasia Ossificans Progressiva (FOP) and other genetic variations. [ Time Frame: one year ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)
Official Title Discovering the Gene(s) Causing Developmental Dysplasia of the Hip
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.
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.

Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA samples are kept
Sampling Method Probability Sample
Study Population Patients who have been diagnosed with hip dysplasia and their family members.
Condition Hip Dysplasia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: October 22, 2019)
Original Estimated Enrollment
 (submitted: August 31, 2010)
Actual Study Completion Date July 2019
Actual Primary Completion Date July 2019   (Final data collection date for primary outcome measure)
Eligibility 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
Sexes Eligible for Study: All
Ages 7 Years to 90 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01193673
Other Study ID Numbers 35439
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Christopher Peters, University of Utah
Study Sponsor University of Utah
Collaborators Not Provided
Principal Investigator: Christopher Peters, MD University of Utah Orthopaedic Center
PRS Account University of Utah
Verification Date October 2019