Abstract
Objective: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset forms of NP-C, its efficacy in the early-infantile (EI) neurological form has not been demonstrated. We compared neurodevelopmental outcome and survival between an untreated and a treated group of EI NP-C patients. Methods: In this observational retrospective study, we compiled data available on all NP-C patients with EI neurological onset diagnosed between 1990 and 2013 in France. Data on clinical status, developmental milestones, and information on treatment were collected. Patients with incomplete data or systemic perinatal, rapidly fatal forms were excluded. Results: Twenty-six patients could be included. Mutations in NPC1 and NPC2 genes were identified in 24 and 2 patients, respectively. The median age at neurological onset was 12 months in the untreated group (n=16) and 9 months in the treated group (n=10). A history of neonatal jaundice was recorded in 14 patients. Twenty-one patients had hepatosplenomegaly. Ten patients were treated with miglustat, 3 of them being still alive. The median duration of miglustat therapy was 29 months. All patients had loss of psychomotor acquisitions or additional neurological symptoms despite miglustat therapy. The ages of developmental milestones and neurological involvement were not significantly different between the two groups. The median survival was 4.42 years in the untreated group (n=11); and 5.45 years in the treated group (n=7). The hazard ratio was 0.57; IC 95% [0.22; 1.49], p=0.25. Digestive adverse events were reported in 7/10 patients on miglustat. Conclusion: Miglustat allowed no significant long-term improvement nor increase of survival in early infantile NP-C.
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