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Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off ventilation per day. We aimed to assess the short-term safety and efficacy of gene therapy (onasemnogene abeparvovec; Zolgensma) on respiratory function in SMA-1 patients ventilated via tracheostomy pre-gene therapy. A prospective cohort study included 22 patients. Patients were weaned off ventilation for at least 8 h daily by optimizing ventilator settings and duration, using cough augmentation, managing excessive airway secretions, enhancing nutrition, screening for respiratory bacterial colonization, and treating infections. Gene therapy was administered at a median age of 26 (Q1: 18, Q3: 43) months with a mean follow-up period of 7.64 (SD: 6.50) months. Gene therapy was safe and effective in resolving paradoxical breathing, improving cough ability, reducing airway secretions, and enhancing CHOP-INTEND scores. The clinical assessment and management implemented pre-gene therapy were effective in safely weaning patients for at least 8 h off ventilation daily. Gene therapy at a late age was safe and effective over the short-term period; however, long-term follow-up is recommended. In conjunction with gene therapy, high-quality clinical care is beneficial and should be paired with gene therapy.

Lambl's excrescence (LE), a rare thin linear fibrous thread of collagen and elastic fibrous tissue originating at closure margins of heart valve leaflets is considered a rare cause of thromboembolism, causing ischemic stroke, transient ischemic attack (TIA), acute coronary syndrome, or peripheral thromboembolism. The gold standard for diagnosing LE is transesophageal echocardiography (TEE). Due to the rarity of the disease and lack of significant research, no guidelines exist about the management of LE. Twenty-two papers about LE were reviewed, focusing on the management aspect aiming to assist in guideline publication. Articles were retrieved using PubMed database using "Lambl's excrescences" as a keyword. All free full text papers up to 2023 were retrieved. In this report, we present the first publication of a case of a TIA secondary to LE in the United Arab Emirates. A 53-year-old male presented with transient attacks of left monocular blindness with complete recovery 2 days later. Extensive stroke work-up was negative, except for TEE, which showed an echo-dense linear mobile structure attached to the aortic surface of the aortic valve closure margin, suggesting LE. As no guidelines exist on the management of LE, the patient was started on Clopidogrel 75 mg daily and remained asymptomatic for 2 years. After reviewing the literature, we suggest the use of Aspirin for patients with ⩾1 embolic event attributed to LE while not on antiplatelets or anticoagulants, as it is the most used and recommended treatment option and is effective in preventing recurrent thromboembolic events., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)