Search Results Within Category "Rare Diseases"

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.

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.

This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The study entails 2 visits over a 3-month period. On enrollment, participants will be scheduled for the 2 visits, during which fasting blood samples will be collected.

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.

This study is testing whether a single additional treatment of radiation therapy, called maintenance radiotherapy, is safe and feasible for adults who have recently been diagnosed with glioblastoma (GBM). Participants will first receive their usual treatment for GBM, including surgery, radiation therapy, and the chemotherapy drug temozolomide. About one month after completing standard radiation therapy, participants will receive one additional treatment of radiation therapy. The study will also look at changes in certain immune cells before and after the additional radiation treatment. Participants will continue their usual follow-up care every 2 to 4 months for up to 5 years after the additional treatment.

This study is for adults with APOL1-Mediated Kidney Disease (AMKD). Researchers are testing a study medicine called AZD2373 to learn if it may help treat this type of kidney disease and how safe it is to take.

The goal of this study is to find out if the experimental drug rapcabtagene autoleucel (herein referred to as YTB323), an investigational new therapy, is safe and effective (can help) for people who have severe refractory diffuse cutaneous systemic sclerosis (dcSSc). YTB323 is a chimeric antigen receptor T cell (CAR-T cell) therapy, which is a type of gene therapy or immunotherapy. CAR-T involves collecting and using a patient’s own immune cells, specifically their T cells, to treat their condition.

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.

The purpose of this study is to compare two treatment approaches for people with amyloidosis: daratumumab, cyclophosphamide, bortezomib, and dexamethasone (Dara-VCD) chemotherapy followed by an autologous stem cell transplant versus Dara-VCD followed by daratumumab maintenance therapy without a stem cell transplant.

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 this study is to evaluate the safety and effectiveness of FLT201, an investigational gene therapy for adults with Gaucher disease type 1. Participants will receive a one-time infusion of FLT201, continue their current treatment for a short time, and complete regular study visits and health assessments over a 5-year follow-up period. Researchers will study the safety of FLT201, how well it works, and how long its effects last.

This study is testing an compound called TP-3654, which is an investigational product being developed for Myelofibrosis.

Women with cystic fibrosis (CF) during peri- and postmenopausal stages may be at increased risk for cardiovascular disease, partly mediated by accelerated cardiometabolic risks. This cross-sectional study aims to address critical gaps in understanding cardiovascular disease (CVD) risk in women with CF and will inform early interventions tailored to this growing population.

Researchers are studying an investigational medication called MRM-3379 for males with Fragile X syndrome (FXS), a genetic condition that can affect learning, memory, communication, and behavior. The goal of this study is to evaluate the safety and tolerability of MRM-3379 and explore whether it may help improve cognitive function by supporting brain cell communication. The study will also examine how the body processes the medication.

This study aims to improve treatment and outcomes for children, adolescents, and young adults with metastatic sarcoma and help guide future care for this disease.

The purpose of this study is to evaluate the safety and effectiveness of migalastat, an investigational treatment for children with Fabry disease. Researchers will also study how the medication is processed by the body and how it affects the disease. Participants will receive migalastat for up to 12 months and complete regular study visits and health assessments throughout the study.

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 study is evaluating two growth hormone treatments in children with short stature due to Turner syndrome, SHOX deficiency, being born small for gestational age without catch-up growth, or idiopathic short stature. Researchers want to compare how well the two treatments support growth, monitor their safety, and better understand how they affect the body. Participation in the study will last approximately 52 weeks.

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.

The purpose of this research study is to evaluate the safety and effectiveness of a new investigational drug called atumelnant for adults with classic Congenital Adrenal Hyperplasia (CAH) caused by 21-hydroxylase deficiency (21-OHD). Researchers want to learn how well atumelnant helps control CAH symptoms, how the body processes the drug (pharmacokinetics or PK), and whether it produces the expected effects in the body (pharmacodynamics or PD). The study will also evaluate whether participants may be able to reduce their steroid (glucocorticoid) dose while taking atumelnant.

A clinical research study for primary focal segmental glomerulosclerosis (FSGS), or genetic focal segmental glomerulosclerosis (FSGS), or focal segmental glomerulosclerosis (FSGS) of undetermined cause in pediatric (12-17 years) and adult patients. Eligible participants will be assigned to receive either DMX-200 (repagermanium) or placebo (50/50 chance) over a treatment period, with total participation up to 28 month, with potential for participation in an Open Label Extension study period. The main purpose of this study is to see if DMX-200 reduces proteinuria and slows the loss of kidney function in those with FSGS.

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 understand if a new tool will help improve early detection of pulmonary hypertension (PH) in patients with interstitial lung disease. Pulmonary hypertension is high blood pressure in the pulmonary artery (which carries blood from your heart to the lungs). We are testing a tool that looks at an electrocardiogram (ECG) to find patients who are identified as being high risk for having PH that is not yet diagnosed. Participation in this study will last approximately six months.

This study is collecting information from people with Prader-Willi syndrome (PWS) who are taking VYKAT XR (diazoxide choline extended-release tablets). Researchers will use information from routine medical care to learn more about the long-term safety, treatment experiences, and health outcomes of people treated with VYKAT XR.

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 purpose of the study is to see if GC1130A, delivered directly to the central ventricle of the brain is safe and tolerable as a means of treating the neurologic disease in MPS 3A.

The purpose of this study is to evaluate new ways to identify lung infections in people with cystic fibrosis (CF). Researchers will use the information to better understand lung health and help improve future testing methods for people with CF.

The purpose of this study is to learn if removing the donor T cells from the donor product using this new method will be a better way to reduce the risk of GVHD. The benefit of removing these cells with this new method is that they will prevent GVHD without requiring drugs to suppress the immune system. Potentially, the immune system will recover from the transplant faster, which in turn will also lessen the risk of severe infections. As well, the patient will not have the other common undesired side effects of these immunosuppressive drugs.

We are doing this research to collect a wide range of samples, clinical information, and measurements that will be used for future research into ALS and related neurological diseases. Participants will be asked to complete 7 in-person study visits and monthly remote self-assessment activities. Access to a personal device (computer and/or smartphone or tablet) that is connected to the internet is needed to complete the monthly remote activities.

Individuals who are carriers of ALS causative gene variants have an increased lifetime risk of developing ALS or a related disorder, Frontotemporal Dementia (FTD). We are doing this research to collect a wide range of biofluid samples, clinical information, and other health and wellbeing information to look for measurable differences that will help us understand how and when the body changes in response to ALS causative gene variants.