Medical Genetics and Genomics

Lysosomal Storage Disease Clinical Trials

Our clinical trials department explores the possibilities of new medical strategies and treatment of patients in the Lysosomal Storage Disease Program. Below is a list of our current clinical trials.

Rare Disease Registries

All patients seen in the Lysosomal Storage Disease Program are welcome to participate in several industry-sponsored Registries. These are multi-center, international, observational programs that track the natural history and outcomes of patients with rare diseases including Gaucher, Fabry, MPS, and Pompe disease.

Premotor Signs and Symptoms of Parkinsonism in Non-Manifesting GBA Mutation Carriers

This study is actively recruiting Gaucher disease carriers or likely carriers over the age of 45 years to participate in a one-visit study. The aim of the study is to determine if a certain set of neurological tests are useful at picking up very early signs of Parkinson disease, and thus could lead to earlier diagnosis of patients. The study includes a number of tests such as questionnaires, cognitive tests, and tests examining smell and color discrimination. This study is sponsored by the NIH and Parkinson Disease Foundation and is a collaboration with Columbia Medical Center.

Survey Study of the Prevalence of Parkinson Disease in Patients and Families with Fabry Disease

Carriers for Gaucher disease are three to six times more likely to have Parkinson disease than non-carriers. Based on this known association, researchers have asked whether this is unique to Gaucher disease or is also true for other Lysosomal Storage Diseases. Recent studies have indicated that Parkinson disease may be associated with Fabry disease as well. Therefore, we are investigating this possibility further by asking Fabry disease patients and their first-degree relatives to complete a family history questionnaire about Parkinson’s disease.

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency (ASCEND-Peds)

Olipudase alfa is an investigational enzyme replacement therapy (ERT) for treatment of Type B Niemann-Pick disease (also known as acid sphingomyelinase deficiency). Olipudase alfa has been in clinical trials with adult participants for several years and is now recruiting pediatric patients with the goal to evaluate the safety and tolerability of olipudase alfa administered intravenously in pediatric patients every two weeks for one year.

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

This study is a continuation of the first clinical trial investigating use of olipudase alfa as an enzyme replacement therapy for patients with Niemann-Pick Type B. The primary objective of this study is to obtain data regarding the safety of olipudase alfa in patients who receive long term therapy. The secondary objectives of this study are to obtain data regarding the efficacy and to characterize how the drug is metabolized following long-term administration. This study is set to continue for five years and includes the patients that have completed a previous study with olipudase alfa.