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
- Conditions
- Familial Mediterranean Fever
- Registration Number
- NCT06923124
- Lead Sponsor
- Novartis Pharmaceuticals
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 44
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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 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 Treatment Received Before FMF Diagnosis Baseline Treatments included:
* Non-steroidal anti-inflammatory drugs (NSAIDs)
* Corticoids
* Colchicine
* Anti-IL-1
* OtherNumber of Patients by Treatment Received At Least Once During the Study Up to 11 years Treatments included:
* Colchicine
* Canakinumab
* Anakinra
* Corticoids
* Methotrexate (MTX)
* Anti-IL-6
* Anti-tumor necrosis factor (TNF)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 Up to 11 years Anti-IL-1 treatment included canakinumab and anakinra.
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 Up to 11 years 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 familyNumber of Patients by Reason for Stopping Anti-IL-1 Treatment Up to 11 years Number of Patients per Clinical Characteristic Category Baseline 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 FMFNumber of Patients by Symptomatology Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132 Symptoms included:
* Abdominal pain
* Arthralgia
* Myalgia
* Articulatory inflammation
* Chest pain
* Rash
* Fatigue
* Symptoms compatible with Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA)
* OtherNumber of Patients by Characteristics of Relapses (Flares) Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132 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 remissionFlare and Non-flare Related Inflammatory Marker Levels Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132 Inflammatory markers included CRP and SAA.
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 Number of Patients by Comorbidity Baseline, Month 3, 6, 9, 12, 18, 24, 36, 48, 60, 72, 84, 96, 108, 120, and 132 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.
Number of Patients by Treatment and Treatment Combinations Used at the end of the Study Up to 11 years 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- 6Number of Patients Using Colchicine With Another Treatment at the end of the Study Up to 11 years
- Secondary Outcome Measures
Name Time Method Number of Patients by Last Reported Response to Colchicine Treatment Up to 11 years Responses included:
* Complete response: absence of clinical manifestations and normal CRP/SAA levels.
* Partial response: \<1 flare/month or persistent high CRP/SAA levels with maximum tolerated dose of colchicine or partial response with unknown frequency.
* Resistant: ≥1 flare/month or persistent high CRP/SAA levels with maximum tolerated dose of colchicine.
* Intolerant: intolerance to treatment as reason for stopping colchicine treatment or changing to another treatment.Time to Achieve Response to Colchicine Treatment Up to 11 years Time to achieve first complete response, complete response, and complete response maintenance were measured.
Number of Patients With Intolerance to Colchicine Treatment Up to 11 years Autoinflammatory Disease Activity Index (AIDAI) Score Up to 11 years The AIDAI is an assessment tool used to evaluate the level of disease activity. The AIDAI for FMF includes 7 variables: fever, abdominal pain, chest pain, arthralgia or myalgia, swelling of the joints, skin rash, and pain relief taken. Disease activity scores are calculated from the daily scores collected in a patient diary completed during flares. Fever is scored as 0 (absent) or present (1), with all other clinical variables scored from 0 (absent) to 3 (severe). Pain relief taken is not included in the disease activity score calculation. A higher total score indicates a higher level of disease activity.
AIDAI was used to assess the association between disease activity and colchicine resistance/intolerance, response to canakinumab treatment, pain, fatigue, and quality of life (absenteeism at school during flares, limitation of physical activity, psychological care, and overall health status).Autoinflammatory Disease Damage Index (ADDI) Score Up to 11 years The ADDI is an assessment tool used to evaluate the level of damage caused by autoinflammatory disease. It consists of 18 damage items grouped by organ system: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. Each damage item is defined and assigned a score of 1, 2, or 3, with each organ system having a maximum allowed score. A higher total score indicates a higher level of damage.
ADDI was used to assess the association between disease damage and colchicine resistance/intolerance, response to canakinumab treatment, pain, fatigue, and quality of life (absenteeism at school during flares, limitation of physical activity, psychological care, and overall health status).Familial Mediterranean Fever 50 (FMF50) Score Up to 11 years The FMF50 is an assessment tool used to evaluate response to treatment for FMF. It consists of 6 items:
1. Percentage change in the frequency of attacks with the treatment.
2. Percentage change in the duration of attacks with the treatment.
3. Patients/parents' global assessment of disease severity.
4. Physicians' global assessment of disease severity.
5. Percentage change in arthritis attacks with the treatment.
6. Percentage change in CRP, ESR, or SAA level with the treatment. An improvement of at least 50% in 5 of the 6 items without worsening in any one item indicates that the patient is responding to treatment.
FMF50 was used to assess response to canakinumab treatment and the association between response to treatment and colchicine resistance/intolerance, pain, fatigue, and quality of life (absenteeism at school during flares, limitation of physical activity, psychological care, and overall health status).Number of Patients by Last Response Reported to Anti-IL-1 Treatment During the Study Up to 11 years Responses included:
* Complete response: absence of clinical manifestations and normal CRP/SAA levels.
* Incomplete response: persistent febrile episodes or high CRP/SAA levels
* Partial response: \<1 flare/month or persistent high CRP/SAA levels with maximum tolerated dose of colchicine or partial response with unknown frequency.
* Resistant: ≥1 flare/month or persistent high CRP/SAA levels with maximum tolerated dose of colchicine.
Anti-IL-1 treatments included canakinumab and anakinra.Time to Achieve Response to Anti-IL-1 Treatment Up to 11 years Time to achieve complete response and complete response maintenance were measured. Anti-IL-1 treatments included canakinumab and anakinra.
Number of Patients With MEFV Mutation by Treatment Response Up to 11 years Response categories included:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Patients Without MEFV Mutation by Treatment Response Up to 11 years Response categories included:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Patients With Mutation in Other Loci by Treatment Response Up to 11 years Response categories included:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Medical Visits of Patients With Scholar Absenteeism During Flares by Response to Anti-IL-1 Treatment Up to 11 years Anti-IL-1 treatments included canakinumab and anakinra. Responses were categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Medical Visits of Patients With Physical Activity Limitations by Response to Anti-IL-1 Treatment Up to 11 years Anti-IL-1 treatments included canakinumab and anakinra. Responses were categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Medical Visits of Patients Requiring Psychological Care by Response to Anti-IL-1 Treatment Up to 11 years Anti-IL-1 treatments included canakinumab and anakinra. Responses were categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Medical Visits of Patients With Presence of Pain by Response to Anti-IL-1 Treatment Up to 11 years Anti-IL-1 treatments included canakinumab and anakinra. Responses were categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Number of Medical Visits of Patients With Presence of Fatigue by Response to Anti-IL-1 Treatment Up to 11 years Anti-IL-1 treatments included canakinumab and anakinra. Responses were categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Visual Analogue Scale (VAS) Score From Clinician Point of View Up to 11 years Patients' overall state of health was assessed using VAS scoring. The VAS is a straight line with a scale ranging from 0 (worst health) to 10 (best health). The clinician marks a point on the line, scoring how they perceive the patient's overall state of health.
VAS was used to assess the association between anti-IL-1 treatment response and overall state of health. Anti-IL-1 treatments included canakinumab and anakinra. Treatment response was categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.Visual Analogue Scale (VAS) Score From Patient Point of View Up to 11 years Patients' overall state of health was assessed using VAS scoring. The VAS is a straight line with a scale ranging from 0 (worst health) to 10 (best health). Patients mark a point on the line, scoring how they perceive their overall state of health.
VAS was used to assess the association between anti-IL-1 treatment response and overall state of health. Anti-IL-1 treatments included canakinumab and anakinra. Treatment response was categorized as follows:
* Respondent: without flares and with normal inflammatory markers in the last 3 months.
* Non-respondent: with flare and/or elevated inflammatory markers in the last 3 months.
* Partial respondent: did not fulfill some of the criteria for complete response.
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Trial Locations
- Locations (1)
Novartis
🇺🇸East Hanover, New Jersey, United States