Search Results Within Category "Rare Diseases"

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.

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.

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 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.

The purpose of this study is to find the best dose of NXC-201 to treat AL amyloidosis. The people in this study have AL amyloidosis that came back or does not get better with treatment. NXC-201 is a cellular therapy made from your own white blood cells called T cells. If you join this study, we will collect some of your T cells and modify (change) them in a lab. This modification will help your T cells find and kill abnormal plasma cells. These genetically changed T cells are called chimeric antigen receptor (CAR) T cells. NXC-201 is a CAR T cell therapy and is given intravenously (by vein). To prepare your body for NXC-201, you will also get fludarabine and cyclophosphamide, which are chemotherapy drugs. After you get NXC-201, you will be in the hospital for at least 10 days.

To evaluate the safety of the EN-374 treatment regimen (HSC mobilization, immune prophylaxis, EN-374 dose and administration, and enrichment of HSCs with O6BG/TMZ).

This is a study to see if a new drug, named XYOSTED Injection (study drug) will help in the treatment of male adolescents ages 12 to less than 18 years old who have low or no testosterone due to a medical condition called Hypogonadism. Male Hypogonadism is a condition in which the body doesn’t produce enough of the hormone called testosterone that plays a key role in masculine growth and development during puberty. Participation in the study will last 52 weeks.

People who have Prader-Willi Syndrome (PWS) and have completed study treatment through Visit 6 on the AVK-101-301 study are being asked to join this study. The goals of this study are to see how ARD-101 affects eating behaviors in people with hyperphagia and PWS by looking at their scores on a 9-question survey, and to understand how safe (how many side effects participants have) and tolerable (how well participants can tolerate any side effects) ARD-101 is over the long-term.

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.

The purpose of the study is to determine the safety and effectiveness of a new procedure to treat Mucopolysaccharidosis Type I Hurler-Scheie and Scheie (MPS I). This procedure involves collecting some white blood cells (termed “B cells”) and growing them outside of the body in a laboratory. While the cells are in the lab, the B cells will be changed to produce more of the IDUA that is missing. This process is called “genetic modification.” The newly modified B cells are then infused back into the participant.

The purpose of this study is to evaluate the long-term safety and ability of a transplant with gene modified stem cells (autologous stem cell transplant) to treat sickle cell disease. Participants must have received investigational gene therapy with bb1111 in a clinical study sponsored by bluebird bio. There is no additional treatment associated with this study as this is a long-term follow-up study.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect various organs of the body, especially the skin, joints, blood, kidneys and central nervous system. "Chronic" means that it can last for a long time. "Autoimmune" means that there is a disorder of the immune system, which, instead of protecting the body from bacteria and viruses, attacks the one’s own tissues. We are doing this study to see if the investigational medication called anifrolumab may have an effect in treating pediatric SLE, to see how well it is tolerated or how safe it is, to measure levels of anifrolumab in the blood and learn more about the disease and associated health problems.

This study is for people who feel very hungry all the time, have trouble controlling eating (hyperphagia) and have Prader-Willi Syndrome (PWS). ARD-101 is being studied to see if it can help the body release certain gut hormones that may help reduce excessive hunger and food-seeking behaviors in people with PWS. The investigational treatment is a tablet taken by mouth and swallowed whole. The study will continue for up to 20 weeks (about 5 months).

The purpose of this research is to evaluate the safety, efficacy, and pharmacokinetics of a new investigational drug called CRN04894, also called atumelnant for treating pediatric participants with Congenital Adrenal Hyperplasia (CAH). We want to see how safe atumelnant is at different doses and how well the body accepts (tolerates) it and how it moves through the body (how it gets in, spreads around, gets used, and then leaves), also known as pharmacokinetics (PK). We also want to see if if atumelnant produces the expected effect in the body, if it helps control the CAH, and if we can reduce the steroid (GC) dose.

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.

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.

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 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 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.

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.

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.

The purpose of this study to learn more about Limb Girdle Muscular Dystrophy by measuring how muscles change over a twelve-month period. Our clinical evaluator will test muscle strength and participants will be asked to complete a series of questionnaires to find out how Limb Girdle impacts daily activities. This information will help plan future studies and drug development for people with LGMD.