This project is an extension of the CDC-funded FORWARD (Fragile X Online Registry With Accessible Research Database) study. From its inception in 2010, the goal of the FORWARD study has been to characterize the natural history of fragile X syndrome (FXS). This current extension project is known as FORWARD-MARCH (Multiple Assessments for Research CHaracterization) because it will include multiple assessments to characterize behavioral, adaptive, and cognitive function in greater depth and thereby further improve understanding of the natural history of FXS. FORWARD-MARCH continues the mission of FORWARD to better understand the natural history of FXS in order to improve the lives of children and adolescents with FXS and the lives of their families. FORWARD-MARCH will also better define trajectories of development in FXS that will be useful in understanding the long-term effects of an intervention relative to the natural history of FXS.

FORWARD-MARCH builds upon the foundation of the FORWARD study. The FORWARD study included 24 participating FXS specialty clinics throughout the US that are members of the FXCRC (Fragile X Clinical & Research Consortium). The FORWARD study worked closely with the Centers for Disease Control and Prevention (CDC), the National Fragile X Foundation (NFXF), and other stakeholders in the FXS community. FORWARD-MARCH will also involve a contractor, Chickasaw Nation Industries (CNI), funded through a contract with the CDC. CNI will assist in data collection and management.

Between September 2022 and August 2026, FORWARD-MARCH expects to enroll at least 600 individuals with fragile X syndrome who were born between 2003-2017. The majority of these individuals will already be FORWARD study participants, enabling researchers to conduct longitudinal analyses incorporating previously collected data. Cognitive, behavioral, and adaptive function will be assessed using parent or caregiver-completed surveys and in-person clinical assessments. After completion of data collection, deidentified data will be securely maintained at CDC and will be an important long-term resource for analyses of the natural history of FXS.

Previous phases of the FORWARD study, conducted between 2012 and 2022, have received IRB review and approval by the institutions of each participating clinic. These previous phases of the study did not require review by a CDC IRB, as CDC had no participant contact and did not have access to personal identifying information (PII). The extension of the FORWARD study covered in this protocol (FORWARD-MARCH, 2022-2026) will continue to be reviewed and approved by the institutions of each participating clinic conducting data collection. However, review and approval are also being sought from the CDC IRB because PII will be maintained on CDC servers and because CDC's contractor, CNI, will regularly have access to PII and interact directly with study participants. A reliance agreement allowing CNI to rely on CDC's IRB is being developed and will be executed before data collection is begun. To clarify which aspects of the protocol involve CDC and CNI staff (rather than just clinic staff), sections 3,4 and 5 of this protocol document each end with a subsection that specifically focuses on the role of CDC and CNI staff.

This is a 3-part study, with each part having a unique set of objectives for male
adolescents aged 12 to < 18 years with fragile X syndrome (FXS). Part 1 is an openlabel,
single-dose, pharmacokinetics (PK) assessment of BPN14770 25 mg and
50 mg; Part 2 is double-blind (DB) and randomized; and Part 3 is an open-label
extension (OLE) for patients who complete Part 2.

This randomized, double-blind, placebo-controlled Phase 2/3 adaptive study will first evaluate two doses of VX-147 in subjects with APOL1-mediated proteinuric kidney disease for 12 weeks to select a dose for Phase 3 and subsequently evaluate the efficacy and safety of the single, selected dose in the Phase 3 portion of the study.
The study comprises three periods: screening, treatment, and follow-up. The initial treatment period for Phase 2 is 12 weeks. Subjects enrolled for Phase 2 and Phase 3 who receive the non-selected dose will switch to the Phase 3 dose in a blinded manner after the Phase 3 dose is determined. The study will complete when 187 composite clinical outcome events are accrued among subjects in Phase 2 and Phase 3 who received placebo or the Phase 3 dose and when all enrolled subjects have at least 2 years of eGFR data.

The purpose of this study is to see if taking depemokimab is safe and effective in treating Hypereosinophilic syndrome (HES) in adults (≥18 years) with uncontrolled HES receiving standard of care (SoC) therapy. The study will last approximately 52 weeks and is a placebo-controlled, double blind, multicentre study.

The purpose of this study is to create a de-identified, public use,
repository of data of Chronic Obstructive Pulmonary Disease (COPD)
patients with by Alpha-1 antitrypsin deficiency (AATD), a rare genetic
condition that can cause COPD and emphysema.

The purpose of this study is to test whether a drug called PRA023 (the study drug) is a good treatment for patients with Systemic Sclerosis associated with Interstitial Lung Disease (SSc-ILD). The study drug PRA023 is an investigational drug that is given by infusion every 4 weeks. An investigational drug is not approved by The US Food and Drug Administration. It can only be used in a research study like this one. In this study, PRA023 will be compared with a placebo (dummy drug). The placebo will be a saline solution that does not have any study drug in it. The comparison with the placebo helps to determine whether the effects seen in your body is because of the PRA023 or not. This is a randomized study meaning that you will be assigned by chance (like flipping a coin) to receive either the study drug or placebo. This will be done with the help of a computer-based program and you will have 50% chance of receiving either the study drug or placebo. The study is double-blinded study and 50 weeks long, meaning you and your study doctor will not know what you are receiving, the study drug or placebo.

The study is sponsored by Prometheus Biosciences, Inc. The study is being done at approximately 25 sites across the United States. The main portion of the study will require 15 visits to the MUSC main campus and will have the following procedures completed over the course of your participation: blood draw, physician-led assessments of your disease (for example physical exam and skin thickness testing), tests to assess your pulmonary function and health (Pulmonary Function Test (PFT) and High Resolution Computed Tomography (HRCT)), electrocardiogram, as well as asked to complete surveys. Compensation is available for participation.

This study is testing an IV infusion medication to treat painful pain episodes, called vaso-occulsive crises(VOC), in participants with stable Sickle Cell Disease (SCD) and subjects with SCD in VOC. Stable SCD Participants will have a screening visit followed by a 24-hour inpatient hospitalization visit to receive the IV medication and then 8 follow up visits. SCD participants in VOC will have a screening visit and receive the IV medication during their hospital admission for treatment of VOC. They will have 8 follow-up visits either while admitted tot he hospital or as outpatient visits . The purpose of this study is to learn more about how a new potential drug for treating SCD symptoms affects the body and how the body processes it.

This study is designed to evaluate a new therapy formulation for Alpha-1 Antitrypsin Deficiency (AATD). AATD is an inherited condition in which a person has low blood levels of a protein known as alpha-1 protease inhibitor (called Alpha1-PI). AATD causes an increased risk of chronic obstructive pulmonary disease (COPD) in the form of emphysema (long term lung disease) and, less frequently, other diseases.

This study is being conducted to evaluate the safety and tolerability of 2 different doses of Alpha-1 drugs (Alpha-1 15% and Liquid Alpha1-PI) in participants with AATD. Participants will be placed into one of two groups. Each group will receive both drugs at different points in the treatment period and because this is an "open label", study participants and the study staff know which dose of study drug participants receive. The study will last up to 486 days (16 months). Many visits are able to be conducted through home health care, lessening the need to come into the clinic.

Alpha-1 15% is an investigational product, meaning it is not approved by the U.S. Food and Drug Administration (FDA). The other drug in this study is Liquid Alpha1-PI (licensed as Prolastin®-C Liquid) and is an FDA approved treatment for adults with emphysema due to AATD. However, it is only approved for the recommended dose of 60 mg/kg. This study includes both the FDA approved 60mg/kg of Liquid Alpha1-PI and an experimental dose of 120 mg/kg that is not FDA approved. Alpha-1 15% is given as an injection under the skin and Liquid Alpha1-PI is given as an infusion into the veins.

You may or may not directly benefit from participation. However, you may help advance scientific knowledge in the treatment of AATD. Currently, the only FDA approved treatment for AATD is IV infusions of Liquid Alpha1-PI. Since the drug being studied, Alpha-1 15%, is injected with a small needle under your skin, there may be a benefit to future patients by providing flexibility of treatment route options as well as stability in serum alpha1-antitrypsin levels.

The purpose of this study is to obtain information on the safety, efficacy, and tolerability of an oral drug called HZN-825 for the treatment of diffuse cutaneous systemic sclerosis (dcSSc) in participants 18-75. The study drug is taken as a tablet twice a day for 52 weeks. This study has 12 planned visits over a 60 week period. The study will measure the improvement, stabilization or worsening of your symptoms, such as changes in your fatigue and pain levels, lung function, skin thickness and other participant reported outcomes.

The International Intestinal Failure Registry (IFR) is an initiative of the Intestinal Rehabilitation and Transplant Association (IRTA) and The Transplantation Society (TTS) and will be managed by these organizations. The primary objective of this project is to create a large international database of children with intestinal failure to characterize their management and outcome and guide the development of best practices and evidence-based management.

The primary objective of this project is to create a large international database of children with intestinal failure to characterize their management and outcome and guide the development of best practices and evidence-based management.