The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. Previously, the investigators have recruited a cohort of healthy volunteers (Studies of Pharmacogenetics in Ethnically-Diverse Populations, or SOPHIE) and have resequenced the coding region of a number of membrane transporter genes to identify genetic polymorphisms in these genes. Subjects in this cohort have agreed to be called back for recruitment in further studies based on their own genetic sequence, allowing the investigators the possibility to prospectively study the influence of genetic polymorphisms on particular phenotypes (i.e., genotype-to-phenotype studies). The investigators plan to take a genotype-to-phenotype approach to study the influence of specific polymorphisms in the novel organic cation transporter 2 (OCTN2) gene on carnitine and lipid metabolism in healthy subjects.

NCT00187733

Conditions

1. Carnitine Transporter Deficiency

Interventions

1. Other: Fasting blood and urine collection

We found eight amino acid sequence variants of OCTN2, of which three (Phe17Leu, Leu144Phe, and Pro549Ser) were polymorphic in at least one ethnic group. --- Phe17Leu --- --- Leu144Phe ---

The purpose of this study will be to demonstrate the safety, tolerability, and efficacy of arimoclomol in subjects with SOD1 positive familial Amyotrophic Lateral Sclerosis (ALS). This type of ALS is HEREDITARY (runs in families), and at least one other person in the family must have had ALS. Study hypotheses: Arimoclomol, taken at a dose of 200 mg three times daily will improve survival as defined by time to death, tracheostomy or permanent assisted ventilation. In addition, it will be safe and well tolerated in subjects with SOD1 positive familial ALS. Funding Source - FDA-OOPD

NCT00706147

Conditions

1. Amyotrophic Lateral Sclerosis

Interventions

1. Drug: Arimoclomol
2. Drug: Placebo

MeSH:Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis

HPO:Abnormal anterior horn cell morphology Amyotrophic lateral sclerosis

A4V, A4T, C6F, C6G, V7E, L8Q, G10V, G41S, H43R, H48Q, D90V, G93A, D101H, D101Y, L106V, I112M, I112T, R115G, L126X, G127X, A145T, V148G, V148I) or possibly associated with rapidly progressive disease (E21G, G37R, L38V, D76Y, L84F, L84V, N86S, D90A het, G93R, I104F, I113T, L144F, L144S). --- G10V --- --- G41S --- --- H43R --- --- H48Q --- --- D90V --- --- G93A --- --- D101H --- --- D101Y --- --- L106V --- --- I112M --- --- I112T --- --- R115G --- --- A145T --- --- V148G --- --- V148I --- --- E21G --- --- G37R --- --- L38V --- --- D76Y --- --- L84F --- --- L84V --- --- N86S --- --- D90A --- --- G93R --- --- I104F --- --- I113T --- --- L144F ---