primary hypertrophic osteoarthropathy
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Cross-sectional study: 1. Significant PHO manifestations have been clinically evaluated, including clubbing fingers, skin thickening, joint swelling and pain, periosteal hyperplasia, etc; 2. Monoallelic or biallelic pathogenic mutations in genes including SLCO2A1, HPGD, and other genes related to PGE2 synthesis, transport, and degradation pathways (PLA2G1B, PTGS1, PTGES, AKR1C1, ABCC4, CBR1, PTGR1, etc.) have not been identified; 3. The core family members (parents and sister) of the above two generations of the family. Prospective randomized controlled study: 1. Patients with significant PHO manifestations (including clubbed fingers, skin thickening, joint swelling and pain, periosteal hyperplasia, etc.) via clinically evaluation and confirmed SLCO2A1 gene mutations through genetic testing; 2. On the basis of 1, the urinary PGE2 level is three times higher than that of normal individuals [61.49 (41.73, 99.07) ng/mmoL creatinine], or the blood PGE2 level is significantly three times higher than that of normal individuals (42 +/- 24 ng/mmoL creatinine). 3. The patient personally signs the informed consent form and is willing and able to comply with the study visit arrangements, laboratory tests, and other research procedures.
Exclusion criteria
Exclusion criteria: Prospective randomized controlled study: 1. Other diseases affecting bone metabolism: diabetes, hypercalcemia or hypocalcemia, hyperthyroidism, rheumatoid arthritis, osteogenesis imperfection, malignant tumor, renal function impairment(creatinine clearance rate<30ml/min), etc.; 2. Currently using drugs that may affect bone metabolism, such as adrenaline or synthetic steroid hormones, bisphosphonates, teriparatide, denosumab, etc; 3. Patients who have previously received treatment with etoricoxib need to be washed out for 2 weeks; 4. Active digestive ulcers and gastrointestinal bleeding; 5. Patients who develop asthma, urticaria, or allergic reactions after taking other nonsteroidal anti-inflammatory drugs; 6. Alcoholics and/or users of psychoactive drugs, drug abusers, and addicts.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| percentage of symptom relief;Suspected gene mutation; | — |
Secondary
| Measure | Time frame |
|---|---|
| PGE2 level of blood;PGE2 level of urine;PGEM level of blood;PGEM level of urine;X-ray of skeleton;MRI of skeleton; | — |
Countries
China
Contacts
Shanghai Sixth People's Hospital