To assess the evolution of bulbar function in nusinersen-treated spinal muscular atrophy type 1 (SMA1).Method: This single-centre retrospective study identified 24 patients (14 females and 10 males) with SMA1, treated with nusinersen between 2017 and 2020. We adapted and validated the Paediatric Functional Oral Intake Scale (p-FOIS), which is an outcome measure to assess bulbar function. Analysis considered SMA1 subtype, nutritional support, and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and p-FOIS scores at initiation of nusinersen treatment (baseline) and at 6, 12, and 24 months after initiation. Results:The median age at baseline was 11 months (range 1 month-7 years 6 months).Median age at initiation of tube feeding was 8 months (range 0-2 years 2 months).Fourteen patients were tube fed at baseline. The median p-FOIS score was 3 at baseline and 2 at 12 and 24 months. Four patients, all with type 1c SMA, remained orally fed at 24 months. Median CHOP INTEND scores increased from 32 at baseline to 42 at 12 and 24 months.Interpretation: Impaired bulbar function persisted as a significant complication in most nusinersen-treated patients with SMA1, in contrast to the improvement in motor abilities demonstrated in the majority. p-FOIS allows for tracking of bulbar function progression and treatment response. Larger, prospective studies investigating the longer-term impacts of nusinersen on bulbar function are warranted. | 909 BULBAR FUNCTION IN NUSINERSEN-TREATED SMA1 Statistical analysisGroupwise medians and ranges were calculated from the data. The individual trajectories for p-FOIS, motor function, and feeding characteristics were plotted.

Pre-emptive kidney transplantation (PKT) is generally considered the optimal treatment for kidney failure as it minimises dialysis-associated morbidity and mortality and is associated with improved allograft survival. This study aimed to determine rates of paediatric PKT in New Zealand, identify barriers to PKT and consider potential interventions to influence future rates of pre-emptive transplantation. Methods: Children commencing kidney replacement therapy between 2005 and 2017 in New Zealand were included. Descriptive analysis considered those referred late (referral <3 months prior to kidney replacement therapy initiation) or early based on referral timing to paediatric nephrology. Additional analysis compared characteristics of children receiving dialysis versus pre-emptive transplant as their first mode of kidney replacement therapy. Results: PKT occurred in 15 of 90 children (17%). One-third of all patients were referred late. No late referrals received a pre-emptive transplant. Pre-emptively transplanted children were referred younger (median age 0.49 years), lived in less deprived areas, were more likely to have congenital anomalies of the kidney and urinary tract and none were M aori or Pasifika ethnicity. Conclusions: Late referral, higher deprivation levels and M aori and Pasifika ethnicity confer a greater risk of not receiving pre-emptive transplantation. Improved education amongst health professionals about recognition of paediatric chronic kidney disease and the importance of timely referral to paediatric nephrology is recommended to reduce rates of late referral. A modified approach including enhanced culturally appropriate support for those diagnosed with chronic kidney disease during transplant evaluation should be pursued to improve equity.

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Neuromuscular Disorders 31 (2021) S47-S162 treatment was ongoing in 7/13 patients. As of November 12, 2020, 31 patients (IV cohort, n = 23; IT cohort, n = 8) were enrolled in LT-002. One patient in each cohort reported SAEs, and one AESI was reported in the IV cohort (treatment-unrelated). None required permanent ventilation and 9 patients reported baseline respiratory support. Among patients for whom motor milestone data are available from baseline visits as of the data cutoff, 11 new milestones that were not achieved in the parent study were achieved for 4 patients, all in the IV cohort. The highest new milestone achieved in the 4 IV cohort patients was sitting without support. Enrollment is ongoing in LT-002. A single IV administration of onasemnogene abeparvovec at the therapeutic dose provided a sustained, durable response for up to 5.6 years since dosing for patients up to 6.1 years of age. There have been no reported treatment-related SAEs or AESIs, supporting a favorable benefit-risk profile.

seroconverters and non-seroconverters (coefficient-0.38, CI-1.02-0.27, p=0.256). A lower proportion of patients with a rejection episode prior to vaccination seroconverted relative to those without prior rejection (22% vs 39%, p=0.029), however this association was not significant on multivariable analysis OR 0.51, 95%CI 0.23-1.14, p=0.10. Serious infection prior to vaccination was not associated with seroconversion (OR 1.28, 95%CI 0.47-3.51, p=0.63). Conclusions: Despite a tantalizing logic we were unable to detect a significant association between vaccine response and the immunologic events of rejection or infection post-vaccination. The univariable association of reduced seroconversion with prior rejection may reflect an increased immunosuppressive load and reduced eGFR in such patients as the association lost significance after adjustment for these factors. It will be of interest to examine whether seroresponses to other vaccine types, such as polysaccharide vaccines, are more valuable in predicting immune events.