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

Sponsor

University Hospital, Strasbourg, France (Other)

Overall Status

Completed

CT.gov ID

NCT00933296

Collaborator

(none)

Enrollment

Locations

Duration (Months)

3.1

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Schnitzler Syndrome

Study Design

Study Type:

Observational

Actual Enrollment :

52 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic

Study Start Date :

Jul 1, 2009

Actual Primary Completion Date :

Sep 1, 2017

Actual Study Completion Date :

Sep 1, 2017

Arms and Interventions

Arm	Intervention/Treatment
A Patients with the Schnitzler syndrome Patients with the Schnitzler syndrome
B Control subjects: B1 healthy B2 other diseases

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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

Contacts and Locations

Locations

	Site	City	Country	Postal Code
1	CHU de Besançon Service de Dermatologie	Besancon	France
2	Service de DermatologieCHU Morvan5 avenue Foch	BREST Cedex	France	29609
3	Centre Hospitalier Général Bd Yves du Manoir	DAX	France
4	Service de Rhumatologie Centre Hospitalier du Mans	Le Mans Cedex 9	France	72037
5	Service de Médecine Interne Hôpital Claude-Huriez	Lille	France
6	Service de DermatologieHôtel Dieu	LYON Cedex 02	France	69288
7	Service médecine interne et thérapeutique Hôpital sainte marguerite	Marseille Cedex 09	France	13274
8	Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche	MONTPELLIER cedex 5	France	34295
9	Service de dermatologie CHU Hôtel Dieu1 place Alexis Ricordeau	Nantes	France	44093
10	Unité de médecine interne Centre Hospitalier G. Renon	Niort	France	79021
11	Service de médecine interne Hôpital Tenon4, rue de la Chine	PARIS Cedex 20	France	75970
12	Service d'immuno-hématologie Hôpital St-Louis 1 av Claude Vellefaux	Paris	France	75010
13	Service de dermatologieCHU GUERIN2 rue de la Milétrie	POITIERS Cedex	France	86021
14	BOYE Thierry	Toulon	France	83041
15	Service de médecine interne-néphrologie Centre Hospitalier Valenciennes	Valenciennes	France	59322
16	Azienda Ospedaliero Universitaria Policlinico	Bari	Italy	70122
17	Clinica DermatologicaUnivesité de GênesVialle Benedetto	Genova	Italy	716132