Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (RP#2)
|First Received Date ICMJE||August 31, 2010|
|Last Updated Date||October 26, 2012|
|Start Date ICMJE||January 2010|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01193673 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Discovering the Gene(s) Causing Developmental Dysplasia of the Hip|
|Official Title ICMJE||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.
|Study Type ICMJE||Observational|
|Study Design ICMJE||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|
Patients who have been diagnosed with hip dysplasia and their family members.
|Condition ICMJE||Focus on Patients Who Have Hip Dysplasia and Their Family|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Active, not recruiting|
|Estimated Enrollment ICMJE||200|
|Estimated Completion Date||January 2015|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Ages||7 Years to 80 Years|
|Accepts Healthy Volunteers||Yes|
|Contacts ICMJE||Contact information is only displayed when the study is recruiting subjects|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT01193673|
|Other Study ID Numbers ICMJE||35439|
|Has Data Monitoring Committee||No|
|Responsible Party||University of Utah|
|Study Sponsor ICMJE||University of Utah|
|Collaborators ICMJE||Not Provided|
|Information Provided By||University of Utah|
|Verification Date||October 2012|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP