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

Schnitzler Syndrome Clinical Trial

Official title:

Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00933296
• Other study ID #: 4350
• Status: Completed
• Phase: N/A
• First received: July 3, 2009
• Last updated: September 7, 2017
• Start date: July 2009
• Est. completion date: September 2017

Study information

• Verified date: September 2017
• Source: University Hospital, Strasbourg, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 52
• Est. completion date: September 2017
• Est. primary completion date: September 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Schnitzler Syndrome
• Syndrome

Locations

Country	Name	City	State
France	CHU de Besançon Service de Dermatologie	Besancon
France	Service de DermatologieCHU Morvan5 avenue Foch	BREST Cedex
France	Centre Hospitalier Général Bd Yves du Manoir	DAX
France	Service de Rhumatologie Centre Hospitalier du Mans	Le Mans Cedex 9
France	Service de Médecine Interne Hôpital Claude-Huriez	Lille
France	Service de DermatologieHôtel Dieu	LYON Cedex 02
France	Service médecine interne et thérapeutique Hôpital sainte marguerite	Marseille Cedex 09
France	Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche	MONTPELLIER cedex 5
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 Cedex 20
France	Service de dermatologieCHU GUERIN2 rue de la Milétrie	POITIERS Cedex
France	BOYE Thierry	Toulon
France	Service de médecine interne-néphrologie Centre Hospitalier Valenciennes	Valenciennes
Italy	Azienda Ospedaliero Universitaria Policlinico	Bari
Italy	Clinica DermatologicaUnivesité de GênesVialle Benedetto	Genova

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Countries where clinical trial is conducted

France,  Italy,