CTX is typically a highly progressive disease, with case reports of symptoms that first appear at any time from birth through adulthood and then worsen over time. Because idiopathic bilateral cataracts occur at an early age in many children with CTX, biomarker testing of these children presents an opportunity for diagnosing children with CTX. Eligible participants will be asked to give a small blood sample and urine sample, and may have genetic testing done to see if they have the gene for CTX. This study will take place on 1 visit for approximately 30 minutes.

The purpose of this study is to find out if JR-141, an experimental drug, works better than the standard treatment, idursulfase, for MPS II (Hunter Syndrome) and how safe and effective it is in the management of central nervous system symptoms (such as brain or body function loss) and other body symptoms (including lungs, ears, heart, kidneys, and eyes, as well as any type of liver, bone or joint abnormalities) related to MPS II. Since JR-141 is an investigational drug, it has not been approved by the Food and Drug Administration (FDA).

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 study is to observe patients with Homocystinuria (CBSDH) over 3 years to learn how their disease is managed under regular circumstances. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. The study has 5 main parts, all of which are provided free of charge to participants: DXA exam, blood draws, ophthalmology exam, cognitive testing, and physical exams. To learn more about the study, please contact our team via the information listed below.

Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact their daily life. The goal of this study is to find the best way to help adults with PMD deal with the stress of their condition, and to help them be better able to bounce back, or be resilient. In order to do this, we are going to test two interventions. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention. The study period will last for about one month and will consist of five online visits and a one-time online discussion group.

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.

The purpose of this new clinical trial is to investigate study drug REN001 in adult patients with Primary Mitochondrial Myopathy. REN001 is currently not approved by the U.S. Food and Drug Administration nor any other regulatory agencies for this disease; it is considered an experimental drug. The study period will last for approximately 9 months and will include at least 4 outpatient visits at CHOP, where participants will be provided the study drug or placebo and monitored for safety. The study also involves blood and urine tests, cardiac tests, physical exercise tests, and other study procedures. For more information: https://www.clinicaltrials.gov/ct2/show/NCT04535609 Participants will be able to receive travel support and reimbursement for related expenses.