DFNA9

Systematic Review of Phenotypical Characteristics of P51S COCH Mutation

Systematic Review of Phenotype Characteristics of DFNA9 Caused by the Pro51 Ser (P51S) Mutation in COCH

Age of onset sensorineural hearing loss (years) in P51S COCH mutation carriers

Annual threshold deterioration (decibel hearing loss per year) in P51S COCH mutation carriers

Age of onset vestibular dysfunction (time constant T (seconds) in P51S COCH mutation carriers

Annual vestibular deterioration (seconds per year) in P51S COCH mutation carriers

Pure tone average (PTA) in decibel hearing loss (dB HL) of P51S COCH mutations carriers

Age-related typical audiogram (ARTA) of P51S COCH mutation carriers

Time constant 'T' with velocity-step test(VST) (seconds) in P51S COCH mutation carriers

summation of gain in caloric test of electronystagmography (ENG) (degrees per second) of P51S COCH mutation carriers

Sebastien Janssens de Varebeke

principal investigator

Jessa Hospital

The study population consists of 100 enrolled patients with different stages of knee OA and varus malalignment >4° with respect to the mechanical loading axis of the lower extremity. A minimum of 40 patients are to be included per year, so that the study period will be planned from January 1st, 2015 to June 30th, 2017. Preliminary results will be reviewed by the end of every year and intermediate reports will be generated by the sub-study-groups

In order to investigate cartilage degeneration/turnover (COMP, collagen II, GAGs), miRNA and cytokine profiles 4 blood draws will be carried out

Osteoarthritis

Identification of Biochemical and Biomechanical Markers for Cartilage Degeneration in the Knee Joint (IBBM-CKJ)

The association between varus malalignment and dynamic knee loading / adduction moment and progression of knee joint cartilage degeneration in the lateral compartment is unclear and has not been studied in detail before. There is a need to identify relevant parameters explaining this cause-effect relationship. It is the purpose of the study to correlate load changes in knee joints with biomechanical and biochemical alterations in cartilage to understand the underlying mechanism of load induced cartilage degeneration in patients. This study will therefore include patients with different stages of knee OA with various malalignments. Moreover, analyzing changes in cartilage morphology, radiography and MRI and correlate those findings with alterations in biochemical parameters in cartilage, serum, urine and synovial fluid will allow us to identify novel biomarkers for the onset and progression of joint cartilage degeneration in varus malaligned knees.

atrophy/proline

Systematic Review of Phenotypical Characteristics of P51S COCH Mutation

Identification of Biochemical and Biomechanical Markers for Cartilage Degeneration in the Knee Joint (IBBM-CKJ)

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