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NCT ID: NCT00196742 Recruiting - Fabry Disease Clinical Trials

Fabry Disease Registry & Pregnancy Sub-registry

Start date: July 31, 2001
Phase:
Study type: Observational [Patient Registry]

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The primary objectives of the Registry are: - To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; - To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; - To characterize and describe the Fabry population as a whole; - To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.

NCT ID: NCT00144794 Recruiting - Clinical trials for Mucopolysaccharidosis I (MPS I)

Mucopolysaccharidosis I (MPS I) Registry

Start date: November 20, 2003
Phase:
Study type: Observational

The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will provide information to better characterize the natural history and progression of MPS I as well as the clinical responses of patients receiving enzyme replacement therapy, such as Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities. The objectives of the Registry are: - To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase) - To characterize and describe the MPS I population as a whole, including the variability, progression, and natural history of MPS I - To help the MPS I medical community with the development of recommendations for monitoring patients and reports on patient outcomes to optimize patient care

NCT ID: NCT00140829 Recruiting - Spastic Paraplegias Clinical Trials

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias

Spatax
Start date: July 2003
Phase: Phase 1
Study type: Observational

Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. These progressive disorders are often severe and fatal, due to the absence of specific therapy. The SPATAX network combines the experience of European clinicians and scientists working on these groups of diseases. Over the past year, they have assembled the largest collection of families and achieved a number of tasks (initiation of a clinical and genetic database, distribution of DNA to participating laboratories, mapping of three new loci, and refinement of several loci). In addition to clinicians from Europe and Mediterranean countries, who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major European laboratories devoted to the elucidation of the molecular basis of these disorders. Each laboratory will centralize all families with a subtype of autosomal recessive (AR) CA (n=116) or SP (n=207) in order to efficiently map and identify the responsible gene(s). Genome-wide scans are already underway in 61 families. Given the expertise of the participants, the researchers expect to map and identify several genes during the course of this project. The spectrum of mutations and phenotype/genotype correlations will be analysed thanks to this unique series of patients with various phenotypes. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling. In the long term, models for genetic entity will be developed in order to understand the pathophysiology and to identify new targets for treatment. The series of patients assembled and the precise knowledge of natural history will facilitate the implantation of therapeutic trials based on rational approaches.

NCT ID: NCT00030719 Recruiting - Neuroblastoma Clinical Trials

Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma

Start date: December 2001
Phase: Phase 3
Study type: Interventional

RATIONALE: Colony-stimulating factors such as filgrastim may increase the number of immune cells found in bone marrow or peripheral blood and may help a person's immune system recover from the side effects of chemotherapy. Combining chemotherapy with peripheral stem cell transplant may allow the doctor to give higher doses of chemotherapy drugs and kill more tumor cells. Monoclonal antibodies can locate tumor cells and either kill them or deliver tumor-killing substances to them without harming normal cells. Combining isotretinoin and monoclonal antibodies may kill any remaining tumor cells following surgery. It is not yet known which treatment regimen is more effective in treating neuroblastoma. PURPOSE: This randomized phase III trial is studying how well combination chemotherapy with or without filgrastim before surgery, high-dose chemotherapy, and radiation therapy followed by isotretinoin with or without monoclonal antibody work in treating patients with neuroblastoma.