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Lysosomal Storage Disorders clinical trials

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NCT ID: NCT02120235 Recruiting - Fabry Disease Clinical Trials

Investigating Lysosomal Storage Diseases in Minority Groups

Start date: February 2014
Phase: N/A
Study type: Observational

Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.

NCT ID: NCT02000310 Recruiting - Clinical trials for Lysosomal Storage Disorders

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Start date: November 2013
Phase:
Study type: Observational

The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditions known as lysosomal storage diseases (LSD). LSDs are caused by inherited genetic mutations and there are over 40 genetically distinct lysosomal storage diseases. Within each specific lysosomal storage disease there are variances in severity of disease, age of onset, and clinical presentation. Though the genetic mutations contributing to the disease have been largely clarified, the molecular and cellular mechanisms that contribute to variations in each distinct LSD remain unclear. With this study we intend to better understand at the cellular and molecular level how the accumulation and storage of metabolic wastes in the lysosome affect the clinical manifestation of LSDs, to detect changes in these mechanisms upon treatment administration, and to correlate these results to genetic information. The knowledge obtained from this research study could lead to better ways to diagnose and treat lysosomal storage diseases.

NCT ID: NCT00654433 Terminated - Clinical trials for Inborn Errors of Metabolism

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

UCBT-002
Start date: March 2008
Phase: Phase 3
Study type: Interventional

Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease. A portion of cord blood cells (ALD-101) will be separated from the cord blood unit and given approximately 4 hours after the standard cord blood transfusion. The study will test if the supplemental cells will increase the speed at which normal levels of circulating blood cells are re-established after transplant.

NCT ID: NCT00001215 Enrolling by invitation - Parkinson Disease Clinical Trials

Genetic Studies of Lysosomal Storage Disorders

Start date: March 8, 1995
Phase:
Study type: Observational

The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders. There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis....