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.

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.

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.

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.

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.

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).

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.

This research study is focused on patients who have Cystathionine beta synthase deficiency Homocystinuria (CBSDH). The purpose of this study is to test the safety and tolerability of an investigational drug called OT-58 (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). Specifically, this study will measure how much OT-58 gets into the blood stream, how long it takes the body to get rid of it, and whether it reduces the amount of homocysteine in your blood.

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. As an observational study, no additional study visits - outside of subjects usual Metabolism clinic visit - are required. Eligible patients will be asked to sign an informed consent form prior to enrollment and will periodically have the option of completing questionnaires about their quality of life.

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.