Study of the Pathophysiological Mechanisms Involved in the SAPHO Syndrome: Genetic Component and Immune Response

NCT07081880 | Recruiting

• 1 other identifier: 644_SAPHO-Screen
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 2

Brief Summary

SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is a chronic inflammatory rheumatism associating bone or joint lesions and dermatological manifestations dominated by severe acne and palmar and palmoplantar pustulosis. Prevalence of SAPHO syndrome is estimated at 1/50000 in France, but this figure is probably underestimated due to frequent misdiagnosis. Osteoarticular manifestations form a rheumatic picture very similar to that of other forms of spondyloarthritis (SpA). The latest French recommendations do not distinguish SAPHO syndrome from other forms of SpA. As a result, the management of SAPHO remains fairly heterogeneous, essentially based on the local experience of rheumatologists. Delays in diagnosis and difficulties in finding effective treatment can result in significant disability and reduced quality of life, particularly detrimental in a young population (age at diagnosis is usually between 30 and 40). The wide spectrum of clinical presentations of SAPHO syndrome explains the complexity of managing this condition. Understanding the pathophysiological mechanisms underlying these different forms of the disease is a major challenge for personalized medicine. SAPHO syndrome is a multifactorial disease that is a result of interaction of genetic, environmental, immunological and infectious factors. In the classification of immune-mediated inflammatory diseases, SAPHO syndrome lies midway between autoinflammatory diseases involving the innate immune response and spondyloarthritis associated with abnormalities in the adaptive immune response. Indeed, while the clinical phenotype may resemble spondyloarthritis in certain aspects, the identification of genetic forms of chronic relapsing osteitis, such as DIRA syndrome or Majeed syndrome, argues in favor of an autoinflammatory origin of SAPHO syndrome. Although osteitis is reputed to be sterile, an infectious initiating factor has long been suspected in this disease. Among the bacterial agents, antigens antigens from Cutibacterium acnes were detected in bone biopsies from patients with SAPHO syndrome. It has been suggested that this bacterium may play a role in triggering a systemic inflammatory response systemic inflammatory response mediated in particular by IL-1β.

Conditions

SAPHO Syndrome

Outcome Measures

Primary Outcomes (1)

• Investigating a Genetic Predisposition to SAPHO Syndrome

  Comparison of allelic frequencies in patients with SAPHO syndrome versus the general population

  at baseline

Secondary Outcomes (7)

• Estimating the Degree of Genetic Component Overlap Between SAPHO Syndrome and Axial SpA

  at baseline

• Studying the Genetic Component Based on Different Phenotypes of SAPHO Syndrome

  at baseline

• Studying the Functional Consequences of Variants Associated with SAPHO Syndrom, on the protein level

  at baseline, at 6 months, and every year for 9 years

• Studying the Functional Consequences of Variants Associated with SAPHO Syndrom, on the transciptom level

  at baseline, at 6 months, and every year for 9 years

• Phenotypic Characterization of Different Circulating Immune Subpopulations in Patients with SAPHO Syndrome

  at baseline and at 6months

Study Arms (1)

biological sampling

Other: biological sampling

Interventions

biological sampling OTHER

DNA and Cells will be sampled

biological sampling

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patient diagnosed with SAPHO syndrome

You may qualify if:

• 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

You may not qualify if:

• Patient under guardianship or curatorship
• Patient deprived of liberty
• Patient under legal protection
• Pregnant or breastfeeding patient

Sponsors & Collaborators

• Fondation Hôpital Saint-Joseph: lead

Study Sites (2)

Hôpital Cochin

Paris, France

RECRUITING

Hôpital Paris Saint Joseph

Paris, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Acquired Hyperostosis Syndrome

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases

Central Study Contacts

Olivier Fogel, MD

CONTACT

+331 58 41 13 70; olivier.fogel@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 18, 2025
• First Posted: July 23, 2025
• Study Start: July 15, 2025
• Primary Completion (Estimated): July 15, 2028
• Study Completion (Estimated): May 15, 2035
• Last Updated: December 24, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)