Research Studies

Metabolic Disease Program Research Studies

Find research studies available to children cared for by the Metabolic Disease Program team.
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Clinical trial
Children (10)
Adults (8)

Clinical Trial Phases
Phase I (5)
Phase II (5)
Phase IV (1)
N/A (4)

Recruitment Status
Recruiting (7)
Non-recruiting (3)

Related Specialties and Programs
Metabolic Disease Program (10)
Division of Human Genetics (1)
Lysosomal Storage Disease (LSD) Center (1)

Specialty
Genetics (2)
Metabolic Diseases (10)

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.

Phase: Phase IV

Actively recruiting: Yes

Category: Adults, Children

GM1 Gangliosidosis Gene Therapy Study
The purpose of this study is to test and find a safe dose of this investigational gene therapy PBGM01 (also known as, the “study drug”) in children who have been diagnosed with the early infantile or late infantile form of GM1. The study will also try to determine how PBGM01 might affect the GM1 disease course over time. The study drug is investigational, which means it has not been approved for marketing by the FDA. This study is the first time PBGM01 will be given to humans, so we do not know for sure if participants will benefit from this study. 

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Children

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. The purpose of this study is to determine drug safety and efficacy of RGX 121. No study drug is being given in this study.

If you agree to take part, your participation will last for up to 3 years after having completed participation in the parent studies. It will include up to 7 visits: up to 4 on-site study visits and 3 check-ins (e.g., over the phone or by internet).  The impact of RGX-121 on biomarkers in patients' cerebrospinal fluid (CSF), blood plasma, and urine will also be evaluated in the long-term. 

Phase: N/A

Actively recruiting: Yes

Category: Children

Lysosomal Storage Disease Registry
This research study is called the Lysosomal Storage Disease Registries. A registry is a database that gathers information about people and their medical treatment. This observational registry is supported by Genzyme Corporation. The goal is to collect information on people with Gaucher, Fabry, MPS I, or Pompe disease. The information might be used for many different research studies about Lysosomal Storage Diseases. It is hoped that healthcare professionals can use this information to better understand these diseases. We expect these registries will continue for a number of years.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children

MPS Biomarkers of Joint Disease
The purpose of this study is to establish connections between biomarkers (a measurable substance in your blood, urine, or saliva) and the stage and grade of bone and cartilage disease in MPS patients.

Phase: N/A

Actively recruiting: No

Category: Adults, Children

mRNA-3705 MMA Study
The purpose of this study is to find out more about mRNA-3705, a study drug that is being tested and is not approved by the U.S. Food and Drug Administration (FDA). In this study you will receive mRNA-3705, which is being developed to treat people with isolated MMA with MUT deficiency mRNA-3705. mRNA-3705 can only be used in a study like this one. We want to see what dose of the study drug is safe, how the study drug affects the function of cells, and how much study drug is in the blood after patients receive it.

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Adults, Children

mRNA-3927 for Propionic Acidemia Study
The purpose of this study is to find out more about an investigational drug called mRNA-3927 (the study drug). An "investigational drug" is a drug that is being tested and is not approved by the U.S. Food and Drug Administration (FDA). We want to see how safe the study drug is and if it works for participants with propionic acidemia (PA).

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Adults, Children

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. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. Participants in this study may be invited to take part in the upcoming drug study. This natural history study includes: physical exams, blood draws, ECG, ophthalmology exams as well as optional Echos, developmental testing, and liver assessments. If you have any of these procedures scheduled as routine appointments, you will not need a duplicate exam. If they are not part of your routine visits, the cost of exams will be provided free of charge. To learn more about the study, please contact our team via the information listed below.

Phase: N/A

Actively recruiting: No

Category: Adults, Children

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. This study involves administration of the RGX-111, general anesthesia, lumbar puncture, blood draws, MRI, ultrasound, electrocardiogram, echocardiogram, hearing test, and chart review.

Phase: Phase I, Phase II

Actively recruiting: No

Category: Adults, Children