11 Clinical Trials for Various Conditions
This is a single center study in which Naglazyme® will be given weekly for two years in patients with Maroteaux-Lamy syndrome, also known as mucopolysaccharide VI (MPS VI), who have previously been treated with an allogeneic transplant.
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or negative urine screening. We will recruit participants who have certain hip and/or joint problems that could potentially be caused by one of these two genetic conditions through a chart review process conducted at Shriners Hospital for Children in Greenville, SC. Diagnostic testing will be performed for each participant to determine if he or she is affected by one of these two conditions. Results will be disclosed to all participants and their legal guardians, and appropriate follow up will be recommended for those who are found to have abnormal results.
The objectives of this program are: to further characterize the natural progression of MPS VI disease; to generate and disseminate information on the care and management of MPS VI patients to clinical and medical professionals; to provide a resource to physicians and patients by providing information for optimizing patient care based on aggregate data; to characterize the clinical response to long-term Naglazyme® (galsulfase) treatment; to further characterize the long-term safety of Naglazyme® treatment.
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells. When healthy stem cells from a donor are infused into the patient, the donor white blood cells can provide the missing enzyme that causes the metabolic disease. Sometimes the transplanted cells from a donor can make an immune response against the body's normal cells. Giving a monoclonal antibody, alemtuzumab, before transplant and cyclosporine and mycophenolate mofetil before and after transplant may stop this from happening. This may be an effective treatment for inherited metabolic disorders. Purpose: The design of this study is to achieve donor cell engraftment in patients with standard-risk inherited metabolic diseases with limited peri-transplant morbidity and mortality. This will be achieved through the administration of the chemotherapy regimen described. The intention is to follow transplanted patient for years after transplant monitoring them for complications of their disease and assisting families with a multifaceted interdisciplinary approach.
The primary objective of this clinical trial is to evaluate the ability to achieve and sustain donor engraftment in patients with lysosomal and peroxisomal inborn errors of metabolism undergoing hematopoietic stem cell transplantation (HCT).
The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of approximately 1.3 per 100,000 live male births.1 Early identification of MPS II is challenging because some initial features, such as chronic runny nose, otitis media, and hernias, are commonly seen in the general population. As a result, even though the signs and symptoms of MPS II typically appear early in childhood, the diagnosis may lag behind by several years. The primary objective of this international multi-center study is to evaluate the positive screening rate of MPS II subjects by screening a high-risk male pediatric population who have had or are scheduled for 1 or more specific ENT surgical procedures (adenoidectomy and/or tonsillectomy and/or tympanostomy) and who have a previously repaired or present evidence of an inguinal and/or umbilical hernia.
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the specific genetic disorder responsible for the illness); 2) available modifying interventions, whether medical or behavioral; and 3) social risks in the children's families, neighborhoods and communities. A valid and reliable telephone-based surveillance system can successfully collect the data required to elucidate these developmental, adaptive and behavioral strengths and difficulties.
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and central nervous system (CNS) treatment outcome; and 3) help clinical researchers develop direct treatments for specific brain structures/functions. The investigators hypothesize that specific and localized neuroimaging and neuropsychological findings and their relationship will be distinct for each MPS disorder. It is further hypothesized that without treatment, functions will decline and structure will change over time in a predictable fashion, and will be related to locus of abnormality and stage of disease.
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease. A portion of cord blood cells (ALD-101) will be separated from the cord blood unit and given approximately 4 hours after the standard cord blood transfusion. The study will test if the supplemental cells will increase the speed at which normal levels of circulating blood cells are re-established after transplant.