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

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ClinicalTrials.gov Identifier: NCT00933296
Recruitment Status : Completed
First Posted : July 7, 2009
Last Update Posted : September 8, 2017
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

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
Schnitzler Syndrome

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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 : July 2009
Actual Primary Completion Date : September 2017
Actual Study Completion Date : September 2017

A Patients with the Schnitzler syndrome
Patients with the Schnitzler syndrome
B Control subjects:
B1 healthy B2 other diseases

Biospecimen Retention:   Samples With DNA
White cells Serum

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
University hospitals

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00933296

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Sponsors and Collaborators
University Hospital, Strasbourg, France
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Principal Investigator: Dan Lipsker, Pr HUS
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Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT00933296    
Other Study ID Numbers: 4350
First Posted: July 7, 2009    Key Record Dates
Last Update Posted: September 8, 2017
Last Verified: September 2017
Keywords provided by University Hospital, Strasbourg, France:
Schnitzler syndrome
Waldentsröm's disease
Additional relevant MeSH terms:
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Schnitzler Syndrome
Pathologic Processes
Monoclonal Gammopathy of Undetermined Significance
Immunoproliferative Disorders
Immune System Diseases