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

September 7, 2017 updated by: University Hospital, Strasbourg, France

Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

52

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

University hospitals

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Dan Lipsker, Pr, HUS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2009

Primary Completion (Actual)

September 1, 2017

Study Completion (Actual)

September 1, 2017

Study Registration Dates

First Submitted

July 3, 2009

First Submitted That Met QC Criteria

July 6, 2009

First Posted (Estimate)

July 7, 2009

Study Record Updates

Last Update Posted (Actual)

September 8, 2017

Last Update Submitted That Met QC Criteria

September 7, 2017

Last Verified

September 1, 2017

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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