Marc C. Patterson, M.D.

A prospective, randomised, double-blind, placebo controlled therapeutic study in patients with confirmed diagnosis of NiemannPick disease type C (NPC). The purpose of this study is to assess the efficacy and safety of arimoclomol (compared to placebo) when it is administered as an add-on therapy to the patient's current prescribed best standard of care; patient's standard of care may, or may not, include miglustat.

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.

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.

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.

The objectives of this study are to prospectively characterize the progression of neurological domains of major interest (gait abnormalities, difficulties with balance, and speech difficulties) through disease-specific adaptation of available generic neurological rating tools that will be used as therapeutic outcome measures for emerging therapies, to produce well characterized natural history cohorts of patients with GM1 and GM2 gangliosidoses to serve as external controls for new experimental therapy trials, and to develop a disease progression model able to identify clusters of disease progression and predict disease trajectory.

The purpose of this study is to assess the safety and tolerability of daily administration of 3 mg and 9 mg AZ-3102 versus placebo when administered daily over 12 weeks in patients, and to investigate the plasma pharmacokinetic (PK) characteristics of 3 mg and 9 mg AZ-3102 when administered daily over 12 weeks in patients.

The primary purpose of this study is to evaluate the effects of intrathecal (IT) administration of SHP611 on gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with metachromatic leukodystrophy (MLD).

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.

The purpose of this study is to establish the natural history of the 3 diseases - Niemann-Pick Type A, B, and C (their characteristics, management and outcomes).