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Identification of pathogenic genes and randomized controlled drug study for primary hypertrophic osteoarthropathy

Identification of pathogenic genes and randomized controlled drug study for primary hypertrophic osteoarthropathy

Status
Active, not recruiting
Phases
Phase 4
Study type
Interventional
Source
ChiCTR
Registry ID
ChiCTR2400088281
Enrollment
Unknown
Registered
2024-08-15
Start date
2024-09-01
Completion date
Unknown
Last updated
2024-08-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

primary hypertrophic osteoarthropathy

Interventions

experimental group:Relying on 30mg/d oral administration of etoricoxib for treatment
control group:Relying on 60mg/d oral administration of etoricoxib for treatment
Cross-sectional group:no

Sponsors

Shanghai Sixth People's Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

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

MeasureTime frame
percentage of symptom relief;Suspected gene mutation;

Secondary

MeasureTime 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

Public ContactYang Xu

Shanghai Sixth People's Hospital

xuyang19912014@163.com+86 188 0190 1458

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026