Clinical Trials

This plan is intended for the use of UX007 (triheptanoin) in the treatment of a single patient with adult Malonyl-coA decarboxylase deficiency.

The objectives of this protocol are to develop and validate clinical assays for inborn errors of metabolism (IEMs) using specimens collected from consenting individuals who have a confirmed diagnosis of an IEM or are a first degree relative of an individual with an IEM and to improve the diagnosis of IEMs by establishing and/or refining disease ranges for each analyte measured and to improve the care of these patients by reducing the number of false positive results and unnecessary follow-up.

The aim of this research study is to develop and validate several clinical molecular genetic lab tests for the confirmation of biochemical genetic test results.

The purpose of this study is to assess the safety and tolerability of oral monosaccharide (galactose and fucose) treatment in a small pilot group of congenital disorders of glycosylation patients.

The purpose of this study is to screen mothers of young children with Autism Spectrum Disorders for metabolic problems, and find if it can be treated with a vitamin/mineral supplement with a different form of folic acid and more B12. These mothers will also be compared to the same number of mothers of normal children for the same metabolic markers.

This study is designed to gain a better understanding of the mechanisms leading to muscle wasting and metabolic abnormalities in skeletal muscle of cancer patients.

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.

The objective of this study is to evaluate the role of molecular testing to improve newborn screening (NBS) for congenital adrenal Hyperplasia (CAH).

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.

To establish a repository of DNA samples collected prospectively from patients with inherited myopathies of unknown molecular and/or biochemical defect. To access residual muscle specimens from diagnostic muscle biopsies obtained as part of the routine medical care. The biospecimens will be used to better understanding the underlying molecular defects and mechanisms of muscle diseases.