14800-DvRappard

79 Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy 5 an AFS probability of 28.6%, versus 66.7% for presymptomatic transplanted patients ( P = .11; Figure 1D). The only surviving late-infantile patient had very limited motor function 3 years after HCT, due to progressive neuropathy. Motor function remained preserved in 2 out of 4 surviving juvenile and 5 adult patients. Progressive neuropathy hampered motor function in 2 juvenile patients. Regarding the adult patients, none showed signs of spasticity or ataxia, and when present (n = 2), polyneuropathy was mild and did not interfere with motor function. In the entire transplanted group, nerve conduction remained normal in 1, stabilized in 8 and further decreased in 2 patients. In comparison, in the nontransplanted patients, all late-infantile and all 13 juvenile patients deteriorated from intact motor function within 16 months to hardly any remaining motor function. In only 2 patients (adult onset) did motor function remained intact for the duration of follow up (Tables 1 and 2). Cognitive function (Tables 1 and 2) remained unchanged in 6 transplanted patients. One late-infantile, 1 juvenile and 1 adult patient showed clear cognitive deterioration after HCT. For the evaluable nontransplanted patients at diagnosis (n = 10), all IQs were low. At follow-up, cognition was not formally tested, but, clinically, patients continued to deteriorate. Other neurological symptoms were more severe in nontransplanted patients. Epilepsy developed in half (11 of 21; 52%) versus 1 of 13 (8%) of the transplanted group. Additionally, severe spasticity was a frequent problem in nontransplanted patients with 9 of 21 (43%) juvenile patients needing intrathecal baclofen treatment. At latest assessment, 17 of 21 (81%) evaluable non-transplanted patients required feeding via gastrostomy while only 1 transplanted patient (late-infantile) required gastrostomy 5 years after HCT. Brain MRI (Tables 1 and 2) improved in 5 of 10 (50%) surviving transplanted patients, after initial deterioration, and stabilized in the remainder. In all nontransplanted patients, but one adult, MRI deteriorated over time.