Immune pathways and genetic factors in SAPHO syndrome
Study of the Pathophysiological Mechanisms Involved in the SAPHO Syndrome: Genetic Component and Immune Response
Fondation Hôpital Saint-Joseph · NCT07081880
This project will test whether specific immune cell patterns and genetic differences in adults with SAPHO syndrome are linked to the disease by collecting blood and other biological samples.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondation Hôpital Saint-Joseph (other) |
| Locations | 2 sites (Paris and 1 other locations) |
| Trial ID | NCT07081880 on ClinicalTrials.gov |
What this trial studies
This observational project will enroll adults with a confirmed diagnosis of SAPHO syndrome at two Paris hospitals to collect biological samples for laboratory study. Researchers will perform deep immune phenotyping of circulating leukocytes—focusing on neutrophil subsets, neutrophil extracellular traps (NETs), and Th17 cells—alongside protein profiling. The study will also conduct genetic analyses to search for variants associated with SAPHO in a European/Caucasian population, addressing gaps from prior smaller or non-European studies. Results will help identify over- or under-represented cell populations and candidate genes that may contribute to disease mechanisms.
Who should consider this trial
Good fit: Adults (≥18 years) with a confirmed diagnosis of SAPHO syndrome who can give informed written consent, are French-speaking, weigh over 35 kg, and can attend the participating Paris hospitals.
Not a fit: Because this is an observational biological-sampling study, participants should not expect direct therapeutic benefit, and pregnant or breastfeeding people and those under legal protection are excluded.
Why it matters
Potential benefit: If successful, this work could identify clearer diagnostic markers and point to new targets for treatments tailored to people with SAPHO.
How similar studies have performed: Prior smaller studies have reported increased Th17 cells, low-density granulocytes, NET formation, and some genetic links (for example IL-23R and IL-4 in Chinese cohorts), but comprehensive circulating immune phenotyping and large-scale genetic analysis in European patients remain novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient aged ≥ 18 years * Patient diagnosed with SAPHO syndrome * Weight \> 35 kg * Patient affiliated with a health insurance plan * French-speaking patient * Patient who has given free, informed, and written consent Exclusion Criteria: * Patient under guardianship or curatorship * Patient deprived of liberty * Patient under legal protection * Pregnant or breastfeeding patient
Where this trial is running
Paris and 1 other locations
- Hôpital Cochin — Paris, France (RECRUITING)
- Hôpital Paris Saint Joseph — Paris, France (RECRUITING)
Study contacts
- Study coordinator: Olivier Fogel, MD
- Email: olivier.fogel@aphp.fr
- Phone: +331 58 41 13 70
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: SAPHO Syndrome