degenerative joint disease Osteoarthritis wear and tear of the joint
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Early onset familial symptomatic OA at multiple joint locations
Exclusion criteria
Exclusion criteria: Not member of the family, no consent
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Clinical OA assessment of familiemembers and thereby obtain the OA phenotype in the family members and an estimation of the penetrance of the mutation. - Functional characterization of the detected mutation, providing insight into how the mutation gives rise to OA in the family | — |
Secondary
| Measure | Time frame |
|---|---|
| In the study we may be able to determine who in the family is carrier of the OA causing mutation also in young unaffected individuals. Molecular insight into oa disease mechanism may in the end lead to new disease modifying druggable targets. | — |
Countries
Netherlands
Outcome results
None listed