Search Results Within Category "Rare Diseases"

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.

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

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 clinical research study exploring the safety and tolerability of a single dose of VX-522 for people with cystic fibrosis (CF) who are not expected to benefit from CFTR modulators.

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).

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.

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.

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 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.

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 the study is to establish and maintain a biorepository of tissue and biospecimen samples relevant to Amyotrophic Lateral Sclerosis (ALS) research. We will obtain, store, and catalogue peripheral blood mononuclear cells (PBMCs), blood and blood components, skin punch biopsy samples, and cerebral spinal fluid (CSF) from people living with ALS, linked to clinical datasets, to advance ALS research.

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.

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.

This study is being done to learn how well ripretinib works against cancer as compared to sunitinib in patients with a specific GIST-gene mutation who have received imatinib. We will also learn more about the safety of ripretinib and look at how ripretinib may affect your body. The choice of whether you will be given ripretinib or sunitinib will be assigned by a computer, by chance, like the flip of a coin. You will have a 2 out of 3 chances of receiving ripretinib. You will know if you are receiving ripretinib or sunitinib.

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.

Currently, there are no approved treatment options for pediatric subjects with proteinuric kidney conditions. The study will look at the safety, efficacy, and pharmacokinetic (PK) trial in children ≥1 to <18 years treated for up to 108 weeks with the drug sparsentan.

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.

Blood vessel inflammation can damage parts of the body. The medicines we use to treat AAV try to turn off the blood vessel inflammation to prevent damage to the body. The purpose of this study is to see how safe and how well a medicine called avacopan works when combined with a child’s regular medicine used to treat their AAV. This medicine is not approved in children, so will be called a “study drug.”

The primary purpose of this study is to record outcomes and patient characteristics in the Cancer Center’s and BMT databases for patients who are undergoing an allogeneic (donor) hematopoietic stem cell transplant. The data will be analyzed for transplant “milestones” such as time to blood count recovery (engraftment) and how patients are doing at 3 months and 6 months after the transplant. Participation in this study will not alter treatment or medical care. All information for this study will be collected from medical records.

This research is being done to learn more about how children with idiopathic short stature grow. About 600 children with idiopathic short stature will be in this study across the world. The study will last a minimum of 6 months (i.e., three study visits). After a child has been in this study for at least 6 months, participants may be offered the option to exit this study and enroll in a different study with growth promoting agents.

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 is a global, multicenter, prospective, observational, longitudinal registry conducted to characterize the natural history and real-world clinical management of patients diagnosed with AHP. This protocol will not recommend the use of any specific treatments, visits, or procedures. No medication is provided as part of registry participation.

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.

This study is enrolling children with Turner syndrome, SHOX deficiency, or Noonan syndrome to evaluate the effect of 3 doses of a study drug, vosoritide, versus the standard of care human Growth Hormone (hGH). The study will look at growth over a 6 month period of time. The study will also look at how well the the study drug works (efficacy) and its safety at the therapeutic dose up until the child reaches their final adult height.

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.

The purpose of this study is to determine the safety and effectiveness of allogeneic hematopoietic cell transplant in persons with an inherited metabolic disorder or osteopetrosis and if it is effective in reducing or slowing the symptoms associated with the genetic error. The study uses a chemotherapy conditioning regimen that prepares the body to accept the donor hematopoietic cells.

This study is for people who have Epidermolysis Bullosa (EB), Fanconi Anemia (FA) or a bone marrow failure disorder that puts them at a higher risk of developing a form of skin cancer called squamous cell carcinoma (SCC). To learn more about these disorders and their relationship to cancer, researchers are collecting skin and blood samples to study in the lab. Blood and skin donated to the will be used by researchers at the University of Minnesota in studying the causes, diagnosis, prevention, and treatment of these disorders. We expect that this study will take about two hours, or the amount of time it takes to check in for a clinic visit and collect the specimens.