Who is this study for: Child to adult patients with Mucopolysaccharidosis Disorder, Glycoprotein Metabolic Disorder, Sphingolipidoses and Recessive Leukodystrophy, Peroxisomal Disorder, Osteopetrosis, Hereditary Leukoencephalopathy, or other Inherited Metabolic Disorders
Enrollment Status: Recruiting
Publish Date: November 03, 2022
Intervention Type: Drug, Biological
Study Drugs: FludarabineBusulfanAnti-Thymocyte GlobulinThiotepaRituximabAlemtuzumabN-AcetylcysteineCelecoxibVitamin EAlpha Lipoic Acid
Study Phase: Phase 2
Summary: 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).
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Summary: The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the genetic etiology and molecular mechanisms of these diseases.