A Study to Describe a Group of Spanish Patients With FMF and to Identify Suboptimally Treated Patients With Minimal Disease Activity and Its Impact on Quality of Life

NCT06923124 | Completed

• 1 other identifier: CACZ885NES01R
• Study Type: observational
• Target: 44
• Locations: 1 country
• Sites: 1

Brief Summary

A retrospective, non-interventional, single-center study conducted in Spain, based on the collection of data from the medical histories of patients with Familial Mediterranean fever (FMF) diagnosed during childhood from January 2005 to December 2021. Data from the patients' medical records was collected retrospectively, from the time of diagnosis to the current moment of the patient's enrollment in the study. Patients had a minimum follow-up of 3 months after diagnosis.

Conditions

Familial Mediterranean Fever

Outcome Measures

Primary Outcomes (26)

• Number of Patients per Clinical Characteristic Category

  Clinical characteristic categories included: * Diagnostic criteria of FMF (symptom associated with FMF, without a proven infectious cause, with a recurrent pattern and/or accompanied by a genetic test suggestive of Mediterranean FeVer gene \[MEFV\]) * Family history of FMF * MEFV genotypes * Phenotypes of interleukin-1 (IL-1) mediated autoinflammatory disease * Diagnosis prior to FMF

  Baseline

• Clinical Characteristic: Time From FMF Diagnosis to Study Inclusion

  Baseline

• Clinical Characteristic: Time From the Start of Symptomatology to Study Inclusion

  Baseline

• Clinical Characteristic: Time From the Start of Symptomatology to FMF Diagnosis

  Baseline

• Clinical Characteristic: Age at the Start of Symptomatology

  Baseline

• Number of Patients by Symptomatology

  Symptoms included: * Abdominal pain * Arthralgia * Myalgia * Articulatory inflammation * Chest pain * Rash * Fatigue * Symptoms compatible with Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) * Other

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Number of Patients by Characteristics of Relapses (Flares)

  Relapse characteristics included: * Fever: high (\> 38C), low (≤ 38C), no fever * Relapse frequency (\<1 or ≥1 relapse per month for 3 months) * Presence of triggers * Presence of complications * Flare and non-flare related inflammatory markers: C-reactive protein (CRP), serum amyloid A protein (SAA), and erythrocyte sedimentation rate (ESR) * Disease remission

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Flare and Non-flare Related Inflammatory Marker Levels

  Inflammatory markers included CRP and SAA.

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Flare and Non-flare Related Erythrocyte Sedimentation Rate (ESR)

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Number of Flares per Month Since Last Visit

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Flare Duration Since Last Visit

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Number of Patients With Recurrency of Flares at Diagnosis

  Baseline

• Number of Patients by Comorbidity

  Comorbidities included vasculitis, panniculitis, inflammatory bowel disease, psoriasis, celiac disease, autoimmune disease, other inflammatory diseases, juvenile idiopathic arthritis, multiple sclerosis, attention deficit hyperactivity disorder (ADHD), and other.

  Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132

• Number of Patients by Treatment Received Before FMF Diagnosis

  Treatments included: * Non-steroidal anti-inflammatory drugs (NSAIDs) * Corticoids * Colchicine * Anti-IL-1 * Other

  Baseline

• Number of Patients by Treatment Received At Least Once During the Study

  Treatments included: * Colchicine * Canakinumab * Anakinra * Corticoids * Methotrexate (MTX) * Anti-IL-6 * Anti-tumor necrosis factor (TNF)

  Up to 11 years

• Number of Patients by Treatment and Treatment Combinations Used at the end of the Study

  Treatments and treatment combinations included: * Colchicine * Canakinumab * Anakinra * Corticoids * MTX * Anti-IL-6 * Anti-TNF * Colchicine / Canakinumab * Colchicine / Corticoids * Anakinra * Canakinumab * Colchicine / Anti-TNF * Colchicine / MTX / Anti-IL- 6

  Up to 11 years

• Number of Patients Using Colchicine With Another Treatment at the end of the Study

  Up to 11 years

• Number of Patients by First Prescribed Colchicine Dose and Age Group

  Up to 11 years

• Number of Patients by Colchicine Maximum Global Dose and Age Group

  Up to 11 years

• Number of Patients With a Change in Colchicine Dose

  Up to 11 years

• Number of Patients by Reason for Stopping Colchicine Treatment and Age Group

  Up to 11 years

• Number of Patients by Anti-IL-1 Treatment Used at the end of the Study

  Anti-IL-1 treatment included canakinumab and anakinra.

  Up to 11 years

• Number of Patients by Anti-IL-1 Dose at the end of the Study

  Up to 11 years

• Number of Patients With a Change in Anti-IL-1 Dose

  Up to 11 years

• Number of Patients With a Change in Anti-IL-1 Treatment

  Changes in treatment included: * Change of treatment to a treatment of the same family (anti-IL-1) * Change of treatment to a treatment of another family

  Up to 11 years

• Number of Patients by Reason for Stopping Anti-IL-1 Treatment

  Up to 11 years

Secondary Outcomes (18)

• Number of Patients by Last Reported Response to Colchicine Treatment

  Up to 11 years

• Time to Achieve Response to Colchicine Treatment

  Up to 11 years

• Number of Patients With Intolerance to Colchicine Treatment

  Up to 11 years

• Autoinflammatory Disease Activity Index (AIDAI) Score

  Up to 11 years

• Autoinflammatory Disease Damage Index (ADDI) Score

  Up to 11 years

Study Arms (1)

FMF Cohort

Spanish patients diagnosed with FMF during childhood from January 2005 to December 2021.

Eligibility Criteria

• Age: Up to 28 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This was a retrospective, non-interventional cohort study.

You may qualify if:

• Patients with FMF clinically and/or genetically diagnosed during childhood according to the site's clinical practice.
• Patients with at least 3 months of follow-up from the date of diagnosis, at the time of their enrollment in the study.

You may not qualify if:

• Patients with autoinflammatory disease excluding FMF.
• Patients with recurrent fever of another etiology (infectious, tumor or other).

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (1)

Novartis

East Hanover, New Jersey, 07936, United States

Location

MeSH Terms

Conditions

Familial Mediterranean Fever

Condition Hierarchy (Ancestors)

Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Novartis Pharmaceuticals

  Novartis Pharmaceuticals

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 3, 2025
• First Posted: April 11, 2025
• Study Start: March 30, 2023
• Primary Completion: May 28, 2024
• Study Completion: May 28, 2024
• Last Updated: April 11, 2025

Record last verified: 2025-04

Locations

US (1)