Division of Human Genetics Research Studies

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.

The purpose of this research is to investigate study drug IW-6463 in patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

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 purpose of this study is to collect data from routine standard of care visits of SMA patients at the Children's Hospital of Philadelphia Neuromuscular Clinic.

The Children's Hospital of Philadelphia is conducting a new study focusing on patients with Primary Mitochondrial Myopathy (PMM).

This study will evaluate the safety and tolerability of RGX-111 in patients with Mucopolysaccharidosis Type I with a neurocognitive deficit that are at least 4 months old.