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Division of Human Genetics Research Studies
1 - 18 of 18
Arimoclomol Early Access Program for Niemann-Pick Disease
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.
Related Conditions:
This study is actively recruiting.
Astellas Clinical Trial for ASP0367
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.
Related Conditions:
This study is not recruiting.
Elamipretide for Adult Patients with Primary Mitochondrial Disease
Evaluate the safety and efficacy of an investigational drug called "Elamipretide" in adult patients with mitochondrial disease.
Related Conditions:
This study is not recruiting.
Executive Function and Healthcare Transition in IMD
Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways.
Related Conditions:
This study is actively recruiting.
Leigh Syndrome Natural History Study
The Children's Hospital of Philadelphia is conducting a Natural History Study in Leigh Syndrome.
Related Conditions:
This study is actively recruiting.
Long-term Follow-up of RGX-121 in Mucopolysaccharidosis Type II (MPS II) Patients
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.
Related Conditions:
This study is actively recruiting.
Long-Term Safety and Clinical Activity of mRNA-3705 in Methylmalonic acidemia (MMA) Patients
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.
Related Conditions:
This study is actively recruiting.
Mitochondrial Myopathy Rating Scale
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.
Related Conditions:
This study is actively recruiting.
MSeqDR Data Collection and Sharing
The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a central web portal that makes it easier to organize and analyze information from individuals and families with diagnosed and suspected mitochondrial disease.Related Conditions:
This study is actively recruiting.
Natural History of Homocystinuria
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.
Related Conditions:
This study is actively recruiting.
Natural History of PMM2-Congenital Disorder of Glycosylation
The goal of this natural history study is to collect clinical and biological information from patients with PMM2-CDG over 3 years.
Related Conditions:
This study is not recruiting.
OTOF Hearing Loss Gene Therapy
In this gene therapy study, we will treat children with deafness caused by an abnormal gene called otoferlin (OTOF).
Related Conditions:
This study is actively recruiting.
PRISM and CFN for PMD
Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity.
Related Conditions:
This study is actively recruiting.
Progression of SMA
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.
Related Conditions:
This study is not recruiting.
Registry of Patients with Lysosomal Acid Lipase Deficiency
This is an observational registry study intended to document the course of Lysosomal Acid Lipase Deficiency (LALD), in order to further understand the disease, its progression, which treatments are effective, and any related complications.
Related Conditions:
This study is actively recruiting.
REN001 for Adults with Primary Mitochondrial Myopathy
The Children's Hospital of Philadelphia is conducting a new study focusing on patients with Primary Mitochondrial Myopathy (PMM).
Related Conditions:
This study is not recruiting.
RGX-111 Gene Therapy in Patients With Mucopolysaccharidosis Type I (MPS I)
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.
Related Conditions:
This study is not recruiting.
RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome)
The purpose of this study is to look at the safety and tolerability of RBX-121, a one-time gene therapy, in subjects with MPS II (Hunter Syndrome).
Related Conditions:
This study is actively recruiting.