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

NCT00933296 | Completed

• 1 other identifier: 4350
• Study Type: observational
• Target: 52
• Locations: 2 countries
• Sites: 17

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

Keywords

Schnitzler syndrome; Waldentsröm's disease; anakinra

Study Arms (2)

A Patients with the Schnitzler syndrome

Patients with the Schnitzler syndrome

B Control subjects:

B1 healthy B2 other diseases

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

University hospitals

You may qualify if:

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

You may not qualify if:

• children and pregnancy

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (17)

CHU de Besançon Service de Dermatologie

Besançon, France

Location

Service de DermatologieCHU Morvan5 avenue Foch

Brest, 29609, France

Location

Centre Hospitalier Général Bd Yves du Manoir

Dax, France

Location

Service de Rhumatologie Centre Hospitalier du Mans

Le Mans, 72037, France

Location

Service de Médecine Interne Hôpital Claude-Huriez

Lille, France

Location

Service de DermatologieHôtel Dieu

Lyon, 69288, France

Location

Service médecine interne et thérapeutique Hôpital sainte marguerite

Marseille, 13274, France

Location

Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche

Montpellier, 34295, France

Location

Service de dermatologie CHU Hôtel Dieu1 place Alexis Ricordeau

Nantes, 44093, France

Location

Unité de médecine interne Centre Hospitalier G. Renon

Niort, 79021, France

Location

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

Paris, 75010, France

Location

Service de médecine interne Hôpital Tenon4, rue de la Chine

Paris, 75970, France

Location

Service de dermatologieCHU GUERIN2 rue de la Milétrie

Poitiers, 86021, France

Location

BOYE Thierry

Toulon, 83041, France

Location

Service de médecine interne-néphrologie Centre Hospitalier Valenciennes

Valenciennes, 59322, France

Location

Azienda Ospedaliero Universitaria Policlinico

Bari, 70122, Italy

Location

Clinica DermatologicaUnivesité de GênesVialle Benedetto

Genova, 716132, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

White cells Serum

MeSH Terms

Conditions

Schnitzler Syndrome

Condition Hierarchy (Ancestors)

Monoclonal Gammopathy of Undetermined Significance; Paraproteinemias; Immunoproliferative Disorders; Immune System Diseases

Study Officials

• Dan Lipsker, Pr

  HUS

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: July 3, 2009
• First Posted: July 7, 2009
• Study Start: July 1, 2009
• Primary Completion: September 1, 2017
• Study Completion: September 1, 2017
• Last Updated: September 8, 2017

Record last verified: 2017-09

Locations

FR (15); IT (2)