Search Results Within Category "Rare Diseases"

The goal of this study is to see if using in-home sleep activity monitoring may help understand sleep problems that occur before and after surgical treatment for Cushing Disease.

This research is being done to learn if a study drug called vosoritide can help children who are shorter than should be for their age to grow.

This is a long-term registry is designed to collect data on hypophosphatasia (HPP) to better understand the condition and learn more about the disease, how patients feel about living with HPP and effect of HPP on the patients wellbeing and health. The study will look at participant’s medical records and health questionnaires about the health status of patients. This study collects observational data from clinical care and does not involve any treatment for HPP or administration of medication for HPP.

The purpose of RESTORATiVE303 is to see if the study drug, which is called VE303, is safe and effective in preventing another episode of Clostridioides Difficile Infection (CDI). VE303 is an investigational drug that has 8 strains of live bacteria, called “commensals.” Commensals are the type of bacteria that live in harmony with the body, without harming health. These specific bacteria are often found in the intestines of normal, healthy people. They were selected for inclusion in VE303 because they rarely infect humans (mostly in very weakened patients), they do not carry any toxins that can make one sick, and they are not known to carry any risk of creating or spreading resistance to antibiotics.

This research study is for creating a registry of all ages with conditions in endocrine and both health. Registries are used very often these days by doctors and scientists to collect information and use to perform research into rare conditions. This registry will be part of a global registry, called "GloBE-Reg" with the University of Glasgow (Scotland) and with the University of MInnesota.

There are currently two main ways of measuring nutrition in the Cystic Fibrosis (CF) population: body mass index (BMI) and laboratory values. This study plans to look at more ways to measure nutrition, and body composition, like the percentages of fat, bone and muscle in your body. One of the ways we will measure these items is by using dual energy X-ray absorptiometry (DXA) scan, which is a type of x-ray. This study hopes to provide researchers with more detailed information about nutrition and body composition in adults with CF.

This research study is for people who have a diagnosis of lung fibrosis and are experiencing increased shortness of breath from it. Participation involves being randomly (by chance) selected to participate in either the home-based rehab program right away or an observation only group. If randomly selected to participate in the observation group first, participants will be transitioned to the home-based rehab program after the observation period. Both programs last 12 weeks. The home-based rehab program involves the use of an electronic tablet containing video exercises that to complete daily for a total of 24 minutes of exercise each day. There is also a mindful breathing meditation that lasts about 3 minutes which you will do after completing the video exercises.

This study has 2 parts: a double-blind period and an open-label extension. In the double-blind period of this study, the study medicine will be compared to a placebo. A placebo is a treatment that looks and tastes exactly like the study medicine but does not contain any active ingredient. In this study, you will receive leriglitazone or placebo. Whether you receive leriglitazone or placebo will be decided randomly (by chance, like flipping a coin). In this study, 1 out of every 2 subjects (50%) will receive leriglitazone and 1 out of every 2 subjects (50%) will receive placebo. To make this study fair, you and the study doctor will not be told which treatment you will receive, this is called “blinding”. In the open-label extension, all subjects will receive leriglitazone.

The purpose of this research to enhance our understanding of adrenoleukodystrophy ALD and study biospecimens such assaliva, blood, urine and stool to identify potential biomarkers for early identification of dise. We invite people who have or are at risk to have ALD, including females who are known or at risk carriers of the mutation for ALD, to help us learn more.

The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1. We will also examine if there is a change in these blood and brain chemicals after participants begin taking oral N-acetylcysteine (NAC), which is available both as a prescription medication and a natural product that has antioxidant and anti-inflammatory effects.

This is a study of highly effective CFTR modulators and their impact in children with CF on endocrine growth factors, the gut microbiome, respiratory microbiome, liver and pancreatic function, lung function, sweat chloride, and inflammatory markers.

XTMAB-16 is a new, experimental drug and is part of a group of drugs known as tumor necrosis factor alpha (TNF α) inhibitors. TNF is a protein in your body that causes inflammation. TNF α inhibitors work by suppressing part of the immune response along with reducing inflammation. We are conducting this research study to see if XTMAB-16 will help in the treatment of pulmonary sarcoidosis.

Primary Immune Regulatory Disorders (PIRD disorders) are a group of diseases that cause the immune system to function abnormally and cause infections, autoimmunity or inflammation that can begin early in life. PIRD is usually caused by changes in genes in DNA. Researchers are trying to learn what types of medical problems patients with PIRD have and how these respond to treatment. Researchers also want to learn which genes cause PIRD and how it can cause the medical problems of PIRD.

To evaluate the efficacy and safety of iptacopan at a dose of 200 mg twice a day for 52 weeks in patients with atypical hemolytic uremic syndrome (aHUS).

CGD disorders are a group of diseases that cause the immune system to function abnormally, leading to infections, autoimmunity and/or inflammation that can begin early in life. CGD is usually caused by changes in certain genes in DNA. Researchers are trying to learn what types of medical problems patients with CGD have and how these respond to treatment, including bone marrow transplantation and gene therapy. Researchers also want to learn which genes cause CGD and how specific gene abnormalities lead to medical problems.

The primary study objective is to determine whether “Take on Transplant” (ToT), a CF-specific Lung Transplant (LTx) educational website, improves patient-reported preparedness for LTx discussions, as measured by the Preparation for Decision Making (PrepDM) Scale at 3 months after randomization, compared to an attention control transplant website (unos.org, UNOS).

The purpose of this open-label Expanded Access Protocol (EAP) is to provide access to MBP134, for treatment of Sudan Virus Disease (SVD). Patients will receive a single IV infusion of 50 mg/kg MBP134. Patients will be monitored and assessed daily through discharge for safety and the incidence of serious adverse events (SAEs), and of all adverse events (AEs) during infusions.

This study will use BBP-418 study drug in patients with LGMD to assess the clinical biomarkers, efficacy and safety of BBP-418 during the 36 months treatment phase.

Skytrofa is approved in the U.S. for sale and use in children with growth hormone deficiency (GHD). This study is being done to find out how safe and useful Skytrofa is for long-term treatment. A child’s care will follow the normal treatment practices at the clinic. There is no new treatment or medicine involved and no additional visits will be performed.

This project is a data and specimen repository for developmental disorders. Participants provide biological samples and permission to store their health-related data. The purpose is collect and manage these materials for use in biomedical research related to developmental disorders.

The purpose of the study is to test new biomarkers of ALS using MRI scans at 3 Tesla (3T). A biomarker is a measurable characteristic that can be used as an indicator of a particular disease state. Identifying biomarkers in ALS will help test new treatments and may help us make diagnoses earlier.

The HEALEY ALS Platform Trial is a research trial that tests the safety and effectiveness of multiple treatments in ALS. A regimen is a specific course of treatment, each with a different study drug. We are doing this research to find out if different treatments have an effect on Amyotrophic Lateral Sclerosis (ALS). We also want to find out if these treatments are safe to take without causing too many side effects.

PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of GCase, which is low in Type 2 Gaucher Disease (GD2) patients. The new GBA1 gene will remain a child’s body cells for many years and possibly for the rest of their life. A participant will need one surgery during which the study drug will be given and will stay in the hospital for at least 48 hours following the surgery.

The purpose of this study is to evaluate the long-term safety and effectiveness of Skytrofa treatment in children growth hormone deficiency. Patient care will follow the normal treatment practices at the clinic. No additional visits will be performed beyond the usual clinical practice.

The purpose of this study is to establish a registry and biobank to study monoclonal gammopathy and amyloidosis. We aim to understand better the changes these diseases cause, the symptoms they present, and the clinical progression to be able to better prevent them and treat them in the future.

The purpose of the study is to test new biomarkers of amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) using MRI scans at 3 tesla (3T). Identifying biomarkers of a disease can lead to a better understanding of the disease as well as improved treatments.

This research is being completed to examine the cells, brain imaging, and speech in individuals with REM Sleep Behavior Disorder who are taking serotonergic medications such as Citalopram, Escitalopram, Fluoxetine, Fluvoxamine, Paroxetine and Sertraline. The purpose of examining these is to try and see if we can predict signs of Dementia with Lewy bodies (a progressive form of dementia with an increase in decline of thinking, reasoning, and other functions). This may benefit others by enabling us to diagnose Dementia with Lewy Bodies sooner rather than later.

The purpose of this study is to test a new drug, called ST-920, to see if it is safe and if it works to treat Fabry disease. ST-920 is a gene therapy treatment, which means that ST-920 replaces the missing or broken gene you have because you have Fabry disease, with a version or copy that works.

A single visit study with muscle and/or skin biopsy / blood draw, performed to determine whether a molecular or cellular defect can be attributed to cells of Fascioscapulohumeral Muscular Dystrophy (FSHD) muscle. This study is recruiting both individuals with genetically confirmed FSHD as well as unaffected healthy (control) individuals.

This study is about a genetic condition called Adrenoleukodystrophy (ALD). The first goal of this study is to understand more about how ALD affects a child’s brain and development in childhood as they take part in medical care and monitoring. This is important to identify the optimal ways to detect and treat manifestations of ALD such as cerebral ALD. The second goal is to learn about how ALD affects caregivers, so that clinicians can offer better support to families in the future. We will also have healthy comparisons to help to learn more about the condition (ALD) being studied, by comparing the information collected to a child without the condition.