A very interesting paper that proposes biomarkers as important ‘end points’ in clinical trials for rare disease drugs.
And why is this important for genetic skeletal disease…..?
There are currently no effective diagnostic and prognostic biomarkers of early stage cartilage degradation for both common and rare skeletal diseases. Diagnosis of arthritis is currently based on imaging techniques such a radiographs performed well after the onset of symptoms such as pain and stiffness. Early and non-invasive markers of cartilage degeneration will provide an evidence-base for appropriate clinical management regimes.
Furthermore, biomarkers are also a vital requirement in clinical trials. Recent advances in understanding disease mechanisms has led to clinical trails for two rare skeletal disease; hypophosphatasia and achondroplasia. However, lack of a suitable biomarker has had a negative impact on defining end-points for these trials.