Real-World Use of Novel Treatments in Patients With Spinal Muscular Atrophy (SMA): A Multi-Site Retrospective Chart Review of Pediatric SMA Patients Outside of the United States

简要总结

主要结局

次要结局

• Time to first improvement from last pre-index/pre-switch assessment(Up to approximately 5 years)
• Number and proportion of patients who achieved at least once ≥ 1 point increase on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)(Up to approximately 5 years)
• Number and proportion of patients without any craniofacial deficits during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who remained free of any non-oral support during the post-index period(Up to approximately 15 years)
• Time from pre-index/last pre- switch until the last follow-up visit with available data for the overall developmental motor milestones rates(Up to approximately 5 years)
• Number and proportion of patients who achieved at least once ≥ 3 points increase on the Hammersmith Functional Motor Scale-Expanded (HFMSE)(Up to approximately 5 years)
• Change in score per month on the HFMSE(Baseline up to approximately 5 years)
• Number and proportion of patients who achieved at least once ≥4 points increase on the CHOP INTEND(Up to approximately 5 years)
• Number and proportion of patients who exhibited at least 1 craniofacial deficit during the post-index period including reduced mouth opening, overbite, narrow/high arched palate, and other craniofacial deficits(Up to approximately 15 years)
• Number and proportion of patients who achieved at least once ≥ 3 points decrease on the HFMSE(Up to approximately 5 years)
• Number and proportion of patients who exhibited constipation at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who achieved (patients who went from the p-FOIS < 3 to the p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with at least 1 swallow evaluation during the post index period including the type of swallow evaluation(Up to approximately 15 years)
• Number and proportion of patients who achieved at least once ≥ 1 point increase on the Hammersmith infant neurological examination: Section 2 (HINE-2, motor milestones)(Up to approximately 5 years)
• Number and proportion of patients who maintained score change ±3 points on the HFMSE(Up to approximately 5 years)
• Estimate of HFMSE score per timepoint during the post period, adjusted for the last pre-value(Up to approximately 15 years)
• Change in score per month on the CHOP INTEND(Baseline up to approximately 5 years)
• Estimate of score per timepoint during the post period, adjusted for the last pre-value on the CHOP INTEND(Up to approximately 15 years)
• Number and proportion of patients who did not remain free of any non-oral support during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who exhibited failure to thrive or underweight at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who had decline (the p-FOIS score decreased by at least 1 point between the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients who remained at p-FOIS <3 category between the timepoints of interest) in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients who remained at p-FOIS ≥ 3 category between the timepoints of interest) in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who achieved (patients who went from the p-FOIS <4 to p-FOIS ≥ 4 category between the timepoints of interest) in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 4 to p-FOIS <4 category between the timepoints of interest) in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients per the Pediatric-Functional Oral Intake Scale (p-FOIS) score at the timepoints of interest(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who exhibited aspiration at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who had improvement (the p-FOIS score increased by at least 1 point between the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (the p-FOIS score maintained stable between the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with p-FOIS ≥ 3 at the timepoints of interest in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with unknown (unknown/missing p-FOIS score in any of the timepoints of interest) in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with p-FOIS <4 at the timepoints of interest in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with p-FOIS ≥ 4 at the timepoints of interest in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with at least 1 symptom of interest related to eating during the post-index period(Up to approximately 15 years)
• Number and proportion of patients with at least 1 aspiration sign during the post-index period for each of the following consistencies: thin liquids; nectar liquids (mildly thick); honey liquids (moderately thick); puree; solid(Up to approximately 15 years)
• Number and proportion of patients without any swallow evaluation during the post-index period(Up to approximately 15 years)
• Number and proportion of patients with p-FOIS <3 at the timepoints of interest in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who lost (patients who went from the p-FOIS ≥ 3 to p-FOIS <3 category between the timepoints of interest) in the functional swallow category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients who remained at p-FOIS< 4 category between the timepoints of interest) in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients without any deficits in swallowing during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who were able to drink nectar during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who were able to drink honey during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced clinical signs of aspiration at the timepoints of interest(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients without clinical signs of aspiration at both timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients who remained at cooing between the timepoints of interest or patients who remained at 'consonant and vowel combination' or above between the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients per survival status(Up to approximately 15 years)
• Number and proportion of patients who maintained status (patients who remained at p-FOIS≥ 4 category between the timepoints of interest) in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who suffered penetration at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who were able to drink thin liquids during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who were able to drink thin nectar during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once fatigue with speech over the course of the day during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once clinical signs of aspiration during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once aversion/disinterest in eating or drinking(Up to approximately 15 years)
• Number and proportion of patients with improvement (patients who had clinical signs of aspiration at the first timepoint of interest and lost it at the next timepoint of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients with clinical signs of aspiration at both timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with unknown status (patients with unknown/missing clinical signs of aspiration in any of the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who experienced fatigue with eating at the timepoints of interest(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who maintained status (patients who didn't experience fatigue with eating at both timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with unknown status (unknown/missing p-FOIS score in any of the timepoints of interest) in the total oral nutrition category(Baseline, 3, 6, and 12 months)
• Number and proportion of patients without any sign of aspiration during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who exhibited no swallow initiation at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who exhibited pharyngeal residue at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who exhibited nasal regurgitation at least once during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who did not experience fatigue with speech over the course of the day during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once problem in chewing during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once a concern for insufficient oral nutrient ingestion(Up to approximately 15 years)
• Number and proportion of patients with decline (patients who didn't have any clinical signs of aspiration at the first timepoint of interest and gained it at the next timepoint of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with improvement (patients who experienced fatigue with eating at the first timepoint of interest and did not experience it at the next timepoint of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with unknown status (patients with unknown/missing experience of fatigue with eating in any of the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with improvement (patients who had cooing as a maximum speech milestone at the first timepoint of interest and achieved at least 1 more speech milestone at the next timepoint of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with unknown status (patients with unknown/missing maximum speech milestone in any of the timepoints of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients with normal pulmonary evaluation during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who used sitting and mobility support devices during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who reported at least once the following deficits relating to the patients cry/voice during the post-index period: not audible; quiet/weak/hard to hear; wet/gurgly; breathy; unknown/not reported(Up to approximately 15 years)
• Number and proportion of patients per category of maximum speech milestone achieved during the post-index period.(Up to approximately 15 years)
• Number and proportion of patients who maintained status (patients who experienced fatigue with eating at both timepoints of interest)(Baseline, 3, 6, and 12 months)
• Time from index date to the first initial improvement in motor function(Up to approximately 15 years)
• Number and proportion of patients per cause of death(Up to approximately 15 years)
• Number and proportion of patients with decline (patients who didn't experience fatigue with eating at the first timepoint of interest and experienced it at the next timepoint of interest)(Baseline, 3, 6, and 12 months)
• Number and proportion of patients per each category of maximum speech milestone achieved at the timepoints of interest(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who experienced at least once paradoxical breathing symptoms during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who had overall improvement at the end of post-index period as per physicians' assessment for general impression, motor function, respiratory function, and swallow function(Up to approximately 15 years)
• Number and proportion of patients with decline in speech milestones(Baseline, 3, 6, and 12 months)
• Number and proportion of patients who experienced at least once chest abnormality symptoms during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who used at least once the following sitting and mobility support devices during the post-index period: standing frame; positioning device; adaptive seating system; gait trainer; walker; wheelchair; scooter; other(Up to approximately 15 years)
• Number and proportion of patients with at least 1 abnormal pulmonary evaluation during the post-index period(Up to approximately 15 years)
• Number and proportion of patients who experienced at least once pneumonia or respiratory illness during the post-index period(Up to approximately 15 years)