Participants with Classical Homocystinuria (HCU) and are 12 to 65 years of age, may be eligible for a research clinical trial called HARMONY. The research study is designed to see if the study drug, Pegtibatinase, is safe and effective in treating patients with HCU. Pegtibatinase is designed specifically to prevent the buildup of homocysteine. The trial lasts up to 38 weeks, which includes a 6-month randomized treatment period with either Pegtibatinase or placebo. Participants will be paid for onsite and home study visits. After completion, participants may be eligible to receive open label treatment in the extension study.

Thank you for your interest in the BWS Registry!

The BWS Registry was developed to improve our understanding and management of Beckwith-Wiedemann syndrome (BWS), hemihypertrophy/lateralized overgrowth, and other disorders.

The primary objective of this registry/repository is to store ongoing clinical data and biospecimens to facilitate the conduct of research on disorders of growth, genetic, and epigenetic alterations. This can also include storage of samples and data from relatives of the index patients to serve as study controls.

Families who wish to join the BWS Registry must give us permission (consent) for review of medical records and other optional parts of the study. Optional parts include sharing photographs, samples, and contact preferences. Once a family completes a consent form, each family member will be assigned a unique study number. To protect his/her identity, medical information (and samples as applicable) will be stored with this number.

The Informed Consent Form outlines each part of the study and reviews your choices for optional consents as well. Please click on the presentations to review what is involved in the study as well as the consent form process.

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).

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.