View clinical trials related to Metabolism, Inborn Errors.
Filter by:OBJECTIVES: I. Determine the safety of total body irradiation and fludarabine followed by allogeneic peripheral blood stem cell or bone marrow transplantation in combination with cyclosporine and mycophenolate mofetil for establishing mixed chimerism in patients with inherited disorders. II. Determine whether this regimen can establish mixed chimerism in these patients. III. Determine whether mixed chimerism is sufficient to reverse disease symptoms in these patients. IV. Determine the safety of donor lymphocyte infusions to eliminate persistent disease in these patients with mixed chimerism.
OBJECTIVES: I. Determine whether plasma choline and breast milk choline levels are low at fasting in a patient with methionine adenosyltransferase deficiency, and if the choline levels are low, determine whether choline levels respond to dietary supplementation with phosphatidylcholine. II. Determine whether this patient has a fatty liver by magnetic resonance spectroscopy.
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients. III. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.
OBJECTIVES: I. Assess the safety and efficacy of sodium phenylbutyrate, sodium benzoate, sodium phenylacetate, and dietary intervention in patients with urea cycle disorders.
OBJECTIVES: I. Evaluate the efficacy of oral ribose in patients with a complex 5'-nucleotidase syndrome who have not received uridine (UR) and thymidine (TDR). II. Evaluate the efficacy of UR/oral ribose and UR/TDR. III. Evaluate the efficacy of oral ribose given in combination with UR/TDR.
OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II. Determine whether clinical manifestations of the specific disease may be arrested or reversed by this treatment.
RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine . Urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to change a gene so that it functions normally. Studying the treatment and metabolism of patients with urea cycle disorders may be helpful in developing new treatments for these disorders. PURPOSE: Two-part clinical trial to study the treatment and metabolism of patients who have urea cycle disorders.
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The most serious complication of the disease is pulmonary fibrosis and typically causes death in patients 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The drug pirfenidone blocks the biochemical process of inflammation and has been reported to slow or reverse pulmonary fibrosis in animal systems. In this study researchers will select up to 40 HPS patients diagnosed with pulmonary fibrosis. The patients will be randomly divided into 2 groups. The patients will not know if they are taking pirfenidone or a placebo "sugar pill". 1. Group one will be patients who will receive pirfenidone. 2. Group two will be patients who will receive a placebo "sugar pill" The major outcome measurement of the therapy will be a change in the lung function (forced vital capacity). The study will be stopped if one therapy proves to be more effective than the other.