Clinical trial NCT06412614: Evaluation of Patients With Systemic Sclerosis Without Specific or Associated Autoantibodies
Official title: Phenotypic Evaluation of Patients With Systemic Sclerosis Without Specific or Associated Autoantibodies
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Systemic Sclerosis
Lead sponsor: Central Hospital, Nancy, France
Sponsor class: OTHER
First posted: 2024-05-14
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients followed in internal medicine or rheumatology units until December 2021

Brief summary: Systemic sclerosis (SSc) is a complex systemic autoimmune disease with variable phenotype and prognosis. Autoantibodies are important diagnostic biomarkers in SSc. More than 90% of patients with SSc had anti-nuclear antibodies. Autoantibodies specific to SSc (anti-topoisomerase I antibodies, anti-centromeres, anti-RNA polymerase III, anti-Th/To, anti-fibrillarin, anti-NOR90) or associated with overlap syndromes (anti-RNA polymerase III antibodies -PM/Scl, anti-KU, anti-U1RNP, anti-TRIM21) are detected in most patients. Excluding anti-TRIM21 antibodies, autoantibodies are usually mutually exclusive and are associated with distinct phenotypes.

Around 5 to 10% of patients with SSc have no autoantibodies detectable with routine biological tests. Recently, new autoantibody specificities have been described in SSc (anti-eIF2B, anti-RuvBL1/2, anti-BICD2, anti-U11/U12 RNP antibodies).

"Seronegative" patients could represent new specificities of autoantibodies (unknown or not currently routinely evaluated) associated with different phenotypes of the disease.

Primary objective is to compare the phenotype of patients with systemic sclerosis with or without detectable specific or associated autoantibodies.

Secondary objectives are:

* to determine homogeneous groups of patients with systemic sclerosis without detectable specific or associated autoantibodies
* to compare the phenotype of patients with systemic sclerosis without detectable specific or associated autoantibodies according to anti-nuclear antibodies status


Eligibility criteria: Inclusion Criteria:

* Patient with systemic sclerosis defined according to ACR/EULAR 2013 classification criteria
* Patient with a minimum follow-up of 3 years since the diagnosis of systemic sclerosis
* Patient evaluated for the following systemic sclerosis specific and/or associated autoantibodies: anti-topoisomerase I, anti-centromere, anti-RNA polymerase III (RP155 and RP11), anti-Th/To antibodies , anti-fibrillarin, anti-NOR90, anti-PM/Scl, anti-KU, anti-U1RNP and anti-SSA antibodies (independently of antinuclear antibodies status)

Exclusion Criteria:

* Patient with equivocal results for one or more systemic sclerosis specific and/or associated autoantibodies
* Patient initially negative but with a positive result for systemic sclerosis specific and/or associated autoantibodies during follow-up

Primary outcomes:
measure: diagnosis time
timeFrame: baseline (J0)
Secondary outcomes:
measure: number of patients with scleroderma
timeFrame: baseline (J0)
measure: number of patients with raynaud's phenomenon
timeFrame: baseline (J0)
measure: number of patients with digital ulcers
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with calcinosis
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with telangiectases
timeFrame: baseline (J0)
measure: number of patients with articular involvement
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with muscular involvement
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with cardiac involvement
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with interstitial lung disease
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with pulmonary arterial hypertension
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with scleroderma renal crisis
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: number of patients with gastrointestinal involvement
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: modified Rodnan skin score
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: forced vital capacity (FVC)
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: diffusing capacity for carbon monoxide (DLCO)
timeFrame: baseline (J0), 3 years of follow-up and through study completion (an average of 5 years)
measure: rate of patients without death
timeFrame: 3 years and 5 years of follow-up
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Brest
country: France
facility: CHU Brest
city: Dunkerque
country: France
facility: CH Dunkerque
city: Grenoble
country: France
facility: CHU Grenoble
city: Lille
country: France
facility: CHU Lille
city: Lyon
country: France
facility: Hospices Civils de Lyon
city: Marseille
country: France
facility: AP-HM
city: Nice
country: France
facility: CHU Nice
city: Paris
country: France
facility: APHP
city: Poitiers
country: France
facility: CHU Poitiers
city: Reims
country: France
facility: CHU Reims
city: Rennes
country: France
facility: CHU Rennes
city: Strasbourg
country: France
facility: Hôpitaux Universitaires de Strasbourg
city: Strasbourg
country: France
facility: Hôpitaux Universitaires de Strasbourg
Study officials:
References: