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  • Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG) Rochester, Minn.

    Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG) This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia). Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

  • Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US (Orphazyme EAP) Rochester, Minn.

    The purpose of this Expanded Access Program is to provide early access to arimoclomol for patients with Niemann-Pick Type C disease who, in the opinion and the clinical judgement of the treating physician, may benefit from treatment with arimoclomol. NPC is a rare, relentlessly progressive, neurological disease and associated with serious morbidity and shortened life expectancy. Participants will receive treatment with arimoclomol until their doctor finds it does not help them anymore, they withdraw, or the study is stopped for any reason.

  • Natural History Study for Pediatric Patients with Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidosis, or Gaucher Disease Type 2 Rochester, Minn.

    The objectives of this study are to collect data on survival of pediatric patients with early onset of either GM1 gangliosidosis, GM2 gangliosidoses, or GD2, to collect data that can constitute a historical control group for future clinical trials, and to evaluate whether the 3 conditions can be assessed together in a single clinical trial.

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  • NPDR: An EU Rare Diseases Registry for Niemann-Pick Disease Type A, B AND C (NPDR) Rochester, Minn.

    The purposes of this study are to establish the natural history of the 3 diseases including their characteristics, management and outcomes; to assess clinical effectiveness of management and quality of care; to provide an inventory of patients for recruitment to interventional studies; to establish genotype-phenotype correlations; and to support post marketing obligations for approved therapies.

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