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This observational study aimed to describe the clinical and epidemiological features of patients with type II or type III spinal muscular atrophy (SMA 5q), some of whom were receiving Nusinersen treatment. To join, patients of any age with a clinical and molecular diagnosis of SMA 5q type II or III were included. It was conducted as a non-phase observational study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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