Faculty

Karthik Muthusamy, M.B.B.S.

Clinical Studies

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Rochester, Minn.
The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Jacksonville, Fla.
The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.

A Randomized, Double-blind, Placebo-controlled Phase 2 Study with Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants with Primary Mitochondrial Myopathy (Mountainside) Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.
The purpose of this study is to evaluate the effectiveness, safety and tolerability of ASP0367 in participants with Primary Mitochondrial Myopathy (PMM).
Research for Individualized Therapeutics in Rare Genetic Disease Rochester, Minn., Jacksonville, Fla., Scottsdale/Phoenix, Ariz.
The purpose of this study is to identify patients with rare genetic disorders that may potentially benefit from an ASO therapeutic based on the characteristics of their genetic disease and the causative genetic alterations and seek the research and development opportunities to have them developed, to have the safety and toxicity studies performed with the ultimate goal of treating the individual in a future N of 1 clinical trial.