Division of Human Genetics Research Studies

This study will provide early access to an investigational drug which does not yet have marketing authorization for human use, Arimoclomol, for a group of patients suffering from Niemann-Pick Disease Type C that are not eligible for or able to participate in other clinical trials.

We are recruiting patients with genetically confirmed primary mitochondrial myopathy who are at least 18 years old for a randomized, double-blind, placebo-controlled study of a new drug to treat this disorder.

Evaluate the safety and efficacy of an investigational drug called "Elamipretide" in adult patients with mitochondrial disease.

Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways.

The Children's Hospital of Philadelphia is conducting a Natural History Study in Leigh Syndrome.

This study will follow Mucopolysaccharidosis Type II (MPS II) patients after enrolling and receiving study drug RGX 121 in the parent study RGX 121-101. The purpose of this study is to determine drug safety and efficacy of RGX 121.

This extension study will determine the long-term safety and effectiveness of mRNA-3705, a treatment for Methylmalonic acidemia (MMA), in patients who previously enrolled in and completed a prior mRNA-3705 study.

The purpose of this research study is to validate the use of surveys such as fatigue scales, Mitochondrial Disease scales, and quality of life scales.

The goal of this study is to observe patients with Homocystinuria (CBSDH) over 3 years to learn how their disease is managed under regular circumstances.

The goal of this natural history study is to collect clinical and biological information from patients with PMM2-CDG over 3 years.