Clinical trial NCT00933296: Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors
Official title: Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Schnitzler Syndrome
Keywords: Schnitzler syndrome
Waldentsröm's disease
anakinra
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2009-07-07
Enrollment: 52
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: University hospitals

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.


Eligibility 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Besancon
country: France
facility: CHU de Besançon Service de Dermatologie
city: BREST Cedex
country: France
facility: Service de DermatologieCHU Morvan5 avenue Foch
city: DAX
country: France
facility: Centre Hospitalier Général Bd Yves du Manoir
city: Le Mans Cedex 9
country: France
facility: Service de Rhumatologie Centre Hospitalier du Mans
city: Lille
country: France
facility: Service de Médecine Interne Hôpital Claude-Huriez
city: LYON Cedex 02
country: France
facility: Service de DermatologieHôtel Dieu
city: Marseille Cedex 09
country: France
facility: Service médecine interne et thérapeutique Hôpital sainte marguerite
city: MONTPELLIER cedex 5
country: France
facility: Service de Dermatologie Hôpital Saint Eloi 80 avenue A Fliche
city: Nantes
country: France
facility: Service de dermatologie CHU Hôtel Dieu1 place Alexis Ricordeau
city: Niort
country: France
facility: Unité de médecine interne Centre Hospitalier G. Renon
city: PARIS Cedex 20
country: France
facility: Service de médecine interne Hôpital Tenon4, rue de la Chine
city: Paris
country: France
facility: Service d'immuno-hématologie Hôpital St-Louis 1 av Claude Vellefaux
city: POITIERS Cedex
country: France
facility: Service de dermatologieCHU GUERIN2 rue de la Milétrie
city: Toulon
country: France
facility: BOYE Thierry
city: Valenciennes
country: France
facility: Service de médecine interne-néphrologie Centre Hospitalier Valenciennes
city: Bari
country: Italy
facility: Azienda Ospedaliero Universitaria Policlinico
city: Genova
country: Italy
facility: Clinica DermatologicaUnivesité de GênesVialle Benedetto
Study officials:
affiliation: HUS
name: Dan Lipsker, Pr
role: PRINCIPAL_INVESTIGATOR
References: