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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2012 by University Hospital, Strasbourg, France
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:
NCT00933296
First received: July 3, 2009
Last updated: November 16, 2012
Last verified: November 2012
  Purpose

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
Schnitzler Syndrome

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic

Resource links provided by NLM:


Further study details as provided by University Hospital, Strasbourg, France:

Biospecimen Retention:   Samples With DNA

White cells Serum


Estimated Enrollment: 70
Study Start Date: July 2009
Estimated Study Completion Date: March 2016
Estimated Primary Completion Date: March 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
A Patients with the Schnitzler syndrome
Patients with the Schnitzler syndrome
B Control subjects:
B1 healthy B2 other diseases

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

University hospitals

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00933296

Contacts
Contact: Dan LIPSKER 003331161799 dan.lipsker@chru-strasbourg.fr

Locations
France
CHU de Besançon Service de Dermatologie Recruiting
Besancon, France
Contact: AUBIN François         
Principal Investigator: AUBIN François         
Service de DermatologieCHU Morvan5 avenue Foch Recruiting
BREST Cedex, France, 29609
Principal Investigator: Laurent MISERY         
Centre Hospitalier Général Bd Yves du Manoir Recruiting
DAX, France
Contact: LIFERMANN François         
Principal Investigator: LIFERMANN François         
Service de Rhumatologie Centre Hospitalier du Mans Recruiting
Le Mans Cedex 9, France, 72037
Principal Investigator: Xavier PUECHAL         
Service de Médecine Interne Hôpital Claude-Huriez Recruiting
Lille, France
Contact: LAUNAY David         
Principal Investigator: LAUNAY David         
Service de DermatologieHôtel Dieu Recruiting
LYON Cedex 02, France, 69288
Principal Investigator: Luc THOMAS         
Service médecine interne et thérapeutique Hôpital sainte marguerite Recruiting
Marseille Cedex 09, France, 13274
Principal Investigator: Stéphane GAYET         
Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche Recruiting
MONTPELLIER cedex 5, France, 34295
Principal Investigator: Didier BESSIS         
Service de dermatologie CHU Hôtel Dieu1 place Alexis Ricordeau Recruiting
Nantes, France, 44093
Contact: Sébastien BARBAROT         
Principal Investigator: Sébastien BARBAROT         
Unité de médecine interne Centre Hospitalier G. Renon Recruiting
Niort, France, 79021
Principal Investigator: Claire BLANCHARD-DELAUNAY         
Service d'immuno-hématologie Hôpital St-Louis 1 av Claude Vellefaux Recruiting
Paris, France, 75010
Contact: Bouchra Bouchra         
Principal Investigator: Bouchra ASLI         
Service de médecine interne Hôpital Tenon4, rue de la Chine Recruiting
PARIS Cedex 20, France, 75970
Principal Investigator: Gilles GRATEAU         
Service de dermatologieCHU GUERIN2 rue de la Milétrie Recruiting
POITIERS Cedex, France, 86021
Principal Investigator: Gérard GUILLET         
BOYE Thierry Recruiting
Toulon, France, 83041
Principal Investigator: BOYE Thierry         
Service de médecine interne-néphrologie Centre Hospitalier Valenciennes Recruiting
Valenciennes, France, 59322
Principal Investigator: Xavier KYNDT         
Italy
Azienda Ospedaliero Universitaria Policlinico Recruiting
Bari, Italy, 70122
Principal Investigator: Rita RIZZI         
Clinica DermatologicaUnivesité de GênesVialle Benedetto Recruiting
Genova, Italy, 716132
Sponsors and Collaborators
University Hospital, Strasbourg, France
Investigators
Principal Investigator: Dan Lipsker, Pr HUS
  More Information

No publications provided

Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT00933296     History of Changes
Other Study ID Numbers: 4350
Study First Received: July 3, 2009
Last Updated: November 16, 2012
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Strasbourg, France:
Schnitzler syndrome
Waldentsröm's disease
anakinra

Additional relevant MeSH terms:
Syndrome
Schnitzler Syndrome
Disease
Pathologic Processes
Monoclonal Gammopathy of Undetermined Significance
Paraproteinemias
Immunoproliferative Disorders
Immune System Diseases

ClinicalTrials.gov processed this record on October 01, 2014