characterization of the clinical-epidemiological profile of patients with sma5q types ii and iii: observational study

Conditions: Spinal Muscular Atrophy

Summary: 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.

Eligibility criteria:
patient eligibility criteria: inclusion criteria: * participants of both sexes, in any age group, who have a clinical diagnosis of sma 5q type ii or type iii, in follow-up at sus, undergoing treatment with nusinersen or not * clinical and molecular diagnosis of sma 5q type ii (disease started after 6 months of age), or clinical and molecular diagnosis of sma 5q type iii (disease started after 18 months of age) exclusion criteria: * refusal to provide written informed consent (either the patient or a legal representative) * symptom onset after 19 years of age * need for invasive ventilatory support for 16 hours or more per day for more than 21 consecutive days * be participating or have participated in another clinical study aimed at specific treatment of sma 5q other than with the drug nusinersen * having undergone treatment with gene therapy 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: * illiteracy * refusal to participate in the study

Keywords: spinal muscular atrophy spinal muscular atrophy type ii spinal muscular atrophy type iii mutation in smn1 nusinersen