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| Name | Class |
|---|---|
| Ministry of Health, Brazil | OTHER_GOV |
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This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System (SUS). The study data will be based on patients´ medical records from several Brazilian public hospitals, which will be defined by the Brazilian Ministry of Health (MS).
This is a retrospective cross-sectional observational study to characterize the clinical and epidemiological profile of patients with spinal muscular atrophy (SMA) 5q types II and III, in follow-up at the Brazilian Unified Public Health System (SUS). This study aims to provide baseline data, which in the future may be used by the Brazilian Ministry of Health (MS) to assess the effectiveness of nusinersen. The clinical and epidemiological data will be collected from patients´ medical records, such as the score for the Hammersmith Functional Motor Scale - Expanded (HFMSE) and the Revised Upper Limb Module (RULM) at baseline, the WHO motor milestones at baseline, disease duration, age at the time of disease diagnosis, age at the time of disease screening, SMN2 (gene copy number), history of hospitalizations, history and characterization of previous surgical procedures, treatment dosage used, patient caregiver´s profile (ie, a family member or companion, who is responsible for taking care of the patient for most of the time). Other variables of interest that will also be collected are patient´s age and gender, geographic distribution, attending physician expertise and care structure where the patients were treated. The data acquisition will be performed using a paper and eletronic CRF (Case report Form). Written informed consent will be obtained from patients who meet the study elegibility criteria. The study will be performed in Brazilian public hospitals (centers) that are able to provide the treatment with nusinersen under the SUS scope. The total sample of patients and number of participating centers will be defined by the MS - SCTIE (Secretariat of Science, Technology and Strategic Supplies)/ DECIT (Department of Science and Technology). However, the initial estimation is a sample of 100 patients to be included in 10-15 centers.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Treated with nusinersen at SUS | Patients with Spinal Muscular Atrophy (SMA) 5q types II and III treated with nusinersen in the Brazilian Unified Public Health System |
| |
| With indication to receive nusinersen at SUS | Patients with Spinal Muscular Atrophy (SMA) 5q types II and III with indication, but not yet receiving nusinersen treatment in the Brazilian Unified Public Health System |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Nusinersen Injectable Product | Drug | The patient´s treatment is provided by SUS. The following dosage scheme of nurinersen is the one approved by ANVISA (Brazilian National Health Surveillance Agency): Nusinersen, 12 mg (5 mL) on days 0 (zero), 14 and 28. A fourth dose will be on day 63 with a maintenance dose once every 4 (four) months. The study will NOT have direct influence on the care received by patients. Data on adherence, interventions, hospitalizations, mechanical ventilation, procedures and adverse events will be obtained from the patients´ medical records. |
| Measure | Description | Time Frame |
|---|---|---|
| Expanded Hammersmith Functional Motor Scale | Hammersmith Functional Motor Scale-Expanded (HFMSE) scores range from 0 to 66, with higher scores indicating better motor function. | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Revised Upper Limb Module | Revised Upper Limb Module (RULM) scores range from 0 to 37, with higher scores indicating better function. | In the inclusion of the study |
| WHO motor milestones | The six World Health Organization (WHO) motor milestones are sitting without support, standing with assistance, hands and knees crawling, walking with assistance, standing alone, and walking alone. |
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Patient Eligibility Criteria:
Inclusion Criteria:
Exclusion Criteria:
Caretaker Eligibility Criteria:
Inclusion Criteria:
• First-degree family member or companion responsible for taking care of the patient with clinical diagnosis of SMA 5q type II or type III
Exclusion Criteria:
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Patients with Spinal Muscular Atrophy (SMA) 5q types II and III in follow-up in the Brazilian Unified Public Health System (SUS), undergoing treatment with nusinersen or not. For each patient included, a first-degree family member or companion responsible for taking care of the patient for most of the time will also be included, if they agree to participate in the study.
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| Name | Affiliation | Role |
|---|---|---|
| Otávio Berwanger, PhD | Hospital Israelita Albert Einstein | Study Director |
| Vanessa Teich, PhD | Hospital Israelita Albert Einstein | Study Chair |
| Edmar Zanoteli, PhD | University of Sao Paulo | Study Chair |
| Elice Batista, PhD | Hospital Israelita Albert Einstein | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Universidade Federal de Minas Gerais - Hospital das Clínicas | Belo Horizonte | Brazil | ||||
| Hospital de Clínicas da Universidade Estadual de Campinas - Unicamp |
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|
| Unique evaluation at the time of inclusion |
| Disease duration | Time between diagnosis and age at inclusion in the study | At the time of inclusion in the study |
| Clinical features | SMN2 (gene copy number); | Unique evaluation |
| History of hospitalizations | Records of need for hospitalizations | Documented in the period prior to the inclusion of the study |
| History and characterization of previous surgical procedures | History of comorbidities | In the period prior to the inclusion of the study |
| Treatment with nusinersen | To undergo intrathecal administration of nusinersen at a dose of 12 mg | Registration of the dose used at the time of inclusion in the study |
| Campinas |
| Brazil |
| Associação Hospitalar de Prot Infancia Dr Raul Carneiro - Hospital Infantil Pequeno Príncipe | Curitiba | Brazil |
| Hospital Infantil Dr. Albert Sabin | Fortaleza | Brazil |
| Hospital de Clínicas de Porto Alegre | Porto Alegre | Brazil |
| Hospital Universitario Pedro Ernesto | Rio de Janeiro | Brazil |
| Instituto de Puericultura e Pediatria Martagão Gesteira da Universidade Federal do rio de Janeiro - UFRJ | Rio de Janeiro | Brazil |
| Hospital das Clínicas da Faculdade de Medicina de São Paulo - HCFMUSP | São Paulo | Brazil |
| Universidade Federal de São Paulo | São Paulo | Brazil |
| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| D014897 | Spinal Muscular Atrophies of Childhood |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| C000590926 | nusinersen |
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