Active clinical trials for "Niemann-Pick Disease, Type A"

This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor. Genetic diseases of blood cell include: Red blood cell defects e.g. hemoglobinopathies (sickle cell disease and thalassemia), Blackfan-Diamond anemia and congenital or chronic hemolytic anemias; White blood cells defects/immune deficiencies e.g. chronic granulomatous disease, Wiskott-Aldrich syndrome,Osteopetrosis, Kostmann's syndrome (congenital neutropenia), Hereditary Lymphohistiocytosis (HLH); Platelets defects e.g.Congenital amegakaryocytic thrombocytopenia; Metabolic/storage disorders e.g. leukodystrophies,mucopolysaccharidoses as Hurler disease;Stem cell defects e.g.reticular agenesis, among many other rare similar conditions. The study treatment plan uses a new transplant treatment regimen that aims to try to decrease the acute toxicities and complications associated with the standard treatment plans and to improve outcome The blood stem cells will be derived from either unrelated donor or unrelated umbilical cord blood.

This is a prospective, multi-center, open-label, non-randomized, single-arm Phase IV confirmatory study. Approximately 19 subjects with Niemann Pick Type C disease (NPC) will be enrolled in this study. The study will be conducted at 2 sites in China.

This study was amended from extended access to a clinical trial. Information will be collected about long-term safety and effectiveness of adrabetadex shots in the spine every 2 weeks. Participants who were already taking adrabetadex will receive their stable dose. Participants who have not ever taken it will start by receiving 400 mg. Participants will receive treatment every 2 weeks until their doctor finds it does not help them anymore, they withdraw, or the study is stopped for any reason. Participants will not receive additional study treatment after their participation in this protocol.

This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann-Pick disease Type C1 (NPC-1) is safe at 3 different dose levels and what effects it has on people who have this condition. NPC-1 is caused by a defect in a protein which is important for the transport of fatty substances like cholesterol out of cells. Without this protein, fats build up in the cells ultimately leading to organ damage. The way in which this experimental treatment works is not fully understood but laboratory experiments have shown that it can potentially remove cholesterol build up from the cells in people who have NPC-1. Approximately 12 patients will be asked to take part in this research study for up to 56 weeks in total. recruitment is expected to take 9 months.Patients who take part will receive treatment by an intravenous infusion every two weeks. The study will look at what the body does to the drug as well as what the drug does to the body by taking and examining blood and urine samples. Samples of Cerebrospinal fluid (CSF) are also taken by lumbar puncture during and following the first treatment dose. Patients will also have their hearing tested, be asked questions by their doctor as well completing questionnaires to help assess any changes in their condition during treatment. Optional assessments patients can choose to take part in include liver biopsies, additional lumbar punctures for CSF.examinations to see if the drug is affecting these. This study is being sponsored and funded by CTD holdings INC. It is planned to be run in the UK, Italy, and Sweden.

Background: Niemann-Pick disease type C (NPC) is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. There is no known cure for NPC. N-acetyl cysteine (NAC) is a drug that has been approved by the Food and Drug Administration to use either orally or IV for the treatment of acetaminophen (Tylenol) poisoning or as an aerosol to reduce the stickiness of mucous in patients with cystic fibrosis. In the body, NAC is converted to an amino acid called cysteine, which cells can convert to a chemical called glutathione. Glutathione is important in helping cells deal with oxidative stress. Based on a number of experiments in cells, mice and patients with NPC, we believe that oxidative stress is increased in NPC. If we can increase glutathione levels, we may be able to decrease the oxidative stress. Objectives: - To test the safety and effectiveness of N-acetyl cysteine to treat Niemann-Pick disease (type C). Eligibility: - Individuals at least 1 year of age who have been diagnosed with NPC. Design: Patients entering this study will be seen at the National Institutes of Health Clinical Center four times during the 20 weeks of the study. These admissions will occur at the start of the study and at weeks 8, 12, and 20. The first NIH visit will last 2 days, and the other visits will last 1 day. Patients will participate in a two-stage study: a period of 8 weeks receiving NAC and a second period of 8 weeks when receiving a placebo (a pill without NAC). Every patient participating in this study will receive NAC during one of the two time periods. The two treatment periods will be separated by a wash-out period, 4 weeks when patients will receive neither NAC nor placebo. Patients will also have a 4-week wash-out period at the beginning of the study. Most physician-prescribed medications, such as seizure medications, will be allowed. During each visit, examinations, procedures, and tests will be done, including blood and urine samples.

Primary Objective: To evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks. Secondary Objective: To characterize the pharmacokinetic profile and evaluate the pharmacodynamics and exploratory efficacy of olipudase alfa administered intravenously in pediatric participants every 2 weeks for 64 weeks.

The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant disorders who require a stem cell transplant. Patients will get either full dose (high-intensity) or lower dose (low intensity) chemo- and immunotherapy followed by a stem cell transplantation with UCB and HPDSC.

This study is done in conjunction with a trial, conducted at Columbia University College of Physicians and Surgeons in New York and the Royal Manchester Children's Hospital in England, to examine the effectiveness of a new drug called OGT 918 for treating Niemann-Pick Type C (NPC) disease. Patients with this genetic disorder do not transport lipids (fatty substances) in their cells, resulting in problems of the liver, spleen and brain. An early sign of NPC is a reduced ability to move the eyes rapidly up and down or from side to side. These voluntary eye movements are called saccades. Patients in the OGT 918 trial who participate in this sub-study will have their saccadic eye movements measured to see if improvement occurs with OGT 918 treatment. Patients with Niemann-Pick Type C disease 12 years of age and older who are enrolled in the OGT 918 trial described above may be eligible for this study. Participants will have both vertical (up and down) and horizontal (side to side) saccadic eye movements measured at two time points before starting treatment with OGT 918 and after 12 months of treatment. For the test, patients sit in a chair with their head positioned as for a regular eye examination (steadied by a chin cup and headrest) and follow with their eyes a series of lights or laser spots moving on a screen at a distance of 1 meter (3 feet). During the test, patients wear either special recording glasses, infrared goggles, or special contact lenses for measuring eye movements. A full eye evaluation lasts about 1 hour, and each eye is evaluated twice. The evaluations are separated in time by at least an hour, and possibly a day.

This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease. Up to 42 patients will be randomised in a 2:1 ratio to either treatment with miglustat or to a non-treatment group. Both groups will follow an identical visit schedule.

This is a Phase-2, multicenter, multiple dose, open-label, 2-part evaluation study which will primarily assess the safety and tolerability of VTS-270 (2-hydroxypropyl beta-cyclodextrin [HP-β-CD]) in pediatric participants with age <4 years.