Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors

NCT ID: NCT00933296

Last Updated: 2017-09-08

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 52 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2009-07-31
• Study Completion Date: 2017-09-30

Brief Summary

The Schnitzler syndrome is a rare entity characterized by an urticarial rash and recurrent fever in a patient with a monoclonal IgM component. Other frequent signs include joint, bone and muscle pain, enlarged spleen, liver and lymph nodes, increased blood sedimentation rate (BSR), elevated neutrophil count and abnormalities on bone morphologic investigations. In 2001, the investigators proposed criteria to diagnose this syndrome, which are currently admitted in the literature. The main complications of the Schnitzler syndrome are a difficult-to-control inflammatory anemia, AA-amyloidosis and malignant B lymphoproliferative disorders. About 15% of patients with a Schnitzler will eventually develop a lymphoproliferative disorder; thus this syndrome allows studying the relationship between lymphomagenesis and inflammation. By many aspects, the Schnitzler syndrome is reminiscent of auto-inflammatory syndromes. Though the term auto-inflammatory disease is as to yet restricted to diseases with Mendelian inheritance, some polygenic inflammatory diseases like for example Crohn's disease clearly involve pathogenetic pathways shared with the monogenic auto-inflammatory syndromes. The investigators stipulate that this could also be the case in the Schnitzler syndrome for the following reasons: (1) this is a recurrent fever of unknown cause; (2) the peculiar eruption, characterized pathologically by a neutrophilic infiltrate very similar to the one observed in the auto-inflammatory cryopyrinopathies (CINCA/NOMID syndrome, Muckle-Wells syndrome and familial cold-urticaria); the investigators recently individualized this particular eruption, significantly associated with systemic inflammatory disease, within the group of neutrophilic urticarias (Kieffer et al. Medicine, in press); (3) the occurrence of aseptic neutrophilic osteitis, very similar to the one reported in patients with Majeed syndrome, another auto-inflammatory syndrome; (4) a significant increase of neutrophil count, not otherwise explained; (5) a spectacular response to the IL-1 inhibitor, within hours after the first injection, similar to what is reported in the PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome or the cryopyrinopathies, suggesting a direct pathogenic effect of IL-1.

Conditions

Schnitzler Syndrome

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

A Patients with the Schnitzler syndrome

Patients with the Schnitzler syndrome

No interventions assigned to this group

B Control subjects:

B1 healthy B2 other diseases

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• patients with the Schnitzler syndrome according to criteria established by Lipsker D et al. Medicine (Baltimore) 2001;80:37-44

Exclusion Criteria

• children and pregnancy

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Strasbourg, France

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Dan Lipsker, Pr

Role: PRINCIPAL_INVESTIGATOR

HUS

Locations

CHU de Besançon Service de Dermatologie

Besançon, , France

Service de DermatologieCHU Morvan5 avenue Foch

Brest, , France

Centre Hospitalier Général Bd Yves du Manoir

Dax, , France

Service de Rhumatologie Centre Hospitalier du Mans

Le Mans, , France

Service de Médecine Interne Hôpital Claude-Huriez

Lille, , France

Service de DermatologieHôtel Dieu

Lyon, , France

Service médecine interne et thérapeutique Hôpital sainte marguerite

Marseille, , France

Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche

Montpellier, , France

Service de dermatologie CHU Hôtel Dieu1 place Alexis Ricordeau

Nantes, , France

Unité de médecine interne Centre Hospitalier G. Renon

Niort, , France

Service d'immuno-hématologie Hôpital St-Louis 1 av Claude Vellefaux

Paris, , France

Service de médecine interne Hôpital Tenon4, rue de la Chine

Paris, , France

Service de dermatologieCHU GUERIN2 rue de la Milétrie

Poitiers, , France

BOYE Thierry

Toulon, , France

Service de médecine interne-néphrologie Centre Hospitalier Valenciennes

Valenciennes, , France

Azienda Ospedaliero Universitaria Policlinico

Bari, , Italy

Clinica DermatologicaUnivesité de GênesVialle Benedetto

Genova, , Italy

Countries

France; Italy

Other Identifiers

4350

Identifier Type: -

Identifier Source: org_study_id