Gene Transfer Clinical Trial for Krabbe Disease
Krabbe DiseaseThis is a nonblinded, non-randomized dose escalation study of intravenous AAVrh10 after hematopoietic stem cell transplantation (HSCT) in which subjects will receive standard of care hematopoietic cell transplantation for Krabbe disease, followed by a single infusion of an adeno-associated virus gene therapy product. Extensive natural history subjects will be used to compare as control group.
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated in the Past...
Krabbe DiseaseThis is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects who have previously received hematopoietic stem cell transplant will receive a single infusion of an adeno-associated virus gene therapy product. Data from untreated and previously transplanted patients with infantile and late infantile Krabbe disease will be used as a comparator group.
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like...
AdrenoleukodystrophyBatten Disease14 moreThe primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis DisordersHurler Syndrome27 moreThis 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).
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile...
LeukodystrophyGloboid CellPBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups, then confirming the optimal dose to be used for confirmation of safety and efficacy.
Krabbe Disease Global Patient Registry
Krabbe DiseaseThe purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/or severity of the disease.
The Myelin Disorders Biorepository Project
LeukodystrophyWhite Matter Disease20 moreThe Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.
Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
Hurler's SyndromeMaroteaux-Lamy Syndrome10 moreThe 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).
Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
Krabbe DiseaseThis study is designed to learn about early brain development in children with Krabbe disease, and to use diffusion tensor imaging as an early diagnostic tool to identify newborns at risk for the disease.
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
Hurler Syndrome (MPS I)Hurler-Scheie Syndrome10 moreThe goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.