Active clinical trials for "Mannosidase Deficiency Diseases"

The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for Hurler syndrome, Maroteaux Lamy syndrome, Mannosidosis, or I-cell disease.

The overall objective of this trial is to provide aftercare treatment with Lamazym and to evaluate the safety of repeated Lamzede i.v. treatment of subjects with alpha-Mannosidosis.

This is a single-center, open-label, dose escalation study of patients with alpha-mannosidosis. 10 patients will be enrolled in this study receiving intravenous infusions of Lamazym. In order to avoid development of delayed hypersensitivity all patients will continue weekly treatment at the designated dose until the Safety Committee approves transfer to the rhLAMAN-03 protocol. It is the hypothesis that Lamazym is safe to use.

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.

Randomized, double-blind, placebo-controlled, parallel group study where subjects will receive velmanase alfa or placebo for 24 weeks. Each subject undergoes to 8 complete visits at the clinic for clinical, laboratory and functional assessments. Study treatment is administered weekly through i.v. infusions

This is a single-center, open-label, multiple-dose study of the efficacy and long-term safety of Lamazym for the treatment of patients with alpha-mannosidosis.

Background: - Alpha-mannosidosis is a rare inherited disorder. It causes problems in many organs and tissues of the body. It can occur in children and adults. Because there is no treatment for this disease, researchers want to find out more about it. Objective: - To learn more about Alpha-mannosidosis. Eligibility: - People ages 5-60 with Alpha-mannosidosis. Design: Participants will be recruited from patient support organizations and medical genetics clinics. Participants will have 3 study visits, about once a year. A final evaluation will be made after 3 years. Participants will have a medical history and a physical exam. Blood samples and a urine sample will be collected. Cerebrospinal fluid will be collected. A small area of the lower back will be numbed with medicine. A thin needle will be inserted between the spine bones. About 2 tablespoons of spinal fluid will be removed. Brain magnetic resonance spectroscopy (MRS) scans will be done at each visit. MRS uses a strong magnetic field and radio waves to take pictures of chemicals in the brain with a scanner. The participant will lie on a table that can slide in and out of the cylinder. While in the scanner the participant will hear loud knocking noises. They will get earplugs or earmuffs to muffle the sound. Medicines might be used to keep the participant asleep during the MRS. Participants will have a skin biopsy at the first visit only. A small area of the participant s skin will be numbed. A small circle of skin will be removed with a biopsy tool.

The natural history study of the rare lysosomal disease alpha-mannosidosis will answer the question; why the rare disease develops as it does?

International, multicenter, observational, longitudinal monitoring study to investigate the prevalence of Alpha-Mannosidosis in participants at risk for Alpha-Mannosidosis.

The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define how common the diseases are, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess the supportive therapies currently used, and identify potential treatments. Laboratory tests will evaluate metabolic and genetic defects found in participants' blood and urine samples.