Lysosomal Storage Disease Program

Our Program

Mount Sinai’s Lysosomal Storage Disease Program is dedicated to the management, treatment, and counseling for pediatric and adult patients with known lysosomal storage diseases (LSDs).

Mount Sinai has been an international leader in the management and treatment of these rare disorders and has been a referral center for patients from all over the world. Our center has long standing programs in Gaucher, Fabry and Niemann Pick Types A and B disease and has expanded to manage patients with Pompe disease, the Mucopolysaccharidoses (MPS), and Lysosomal Acid Lipase Deficiency (LALD). We have been involved in clinical research, including natural history studies, disease registries and interventional clinical trials for Gaucher, Fabry, Niemann Pick Type B and Lysosomal Acid Lipase deficiency.

Our team is comprised of board certified specialists including medical geneticists, genetic counselors, nurse practitioners, a specialized infusion nurse, a social worker, and clinical and research coordinators.

Our program has a dedicated Infusion Center where patients with Gaucher, Fabry, Pompe, MPS, and LALD can receive regular treatment with enzyme replacement therapy. We also provide consultations and long-term care. Prenatal counseling is also available for couples who are at risk for having a child with a lysosomal storage disease to discuss all available reproductive options including preconception and prenatal testing.

Infusion Therapy Program

As part of the LSD Program, we have a dedicated outpatient infusion suite to serve our patients. Our highly skilled infusion nurse has over 20 years of experience administering various infusion therapies. One of the benefits of our infusion center is that we have an onsite pharmacist who prepares the medications in an efficient and timely manner to minimize the time that patients will have to miss school or work. We pride ourselves on providing a private and comfortable environment in which our patients can receive their treatments. The suite has both reclining chairs and beds to accommodate patients of all ages. Free Wi-Fi and televisions are available for each person, so that our patients can use this time to be as relaxing or productive as they choose.

The Infusion Suite is open Monday-Thursday from 8 am – 5 pm. Early morning and late afternoon appointments are available upon request.

LSD 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.

Lysosomal Storage Diseases: A Pilot Newborn Screen and Examination of the Associated Ethical, Legal, Social Issues

Newborn screening allows rare diseases to be diagnosed and treated as early as possible. Recent improvements in technology enable us to screen newborns for more diseases than ever before. This study will allow us to evaluate how well newborn screening works for four lysosomal storage diseases, Fabry, Gaucher, Niemann-Pick A/B, and Mucopolysaccharidosis type I (MPS I) diseases.

Visit the lysosomal storage diseases research program to learn more.

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.

Meet Our Team

Mount Sinai has team of dedicated doctors, nurses, counselors and social workers dedicated to the treatment and care our patients. Learn more about the members of our committed team.

Manisha Balwani, MD, MS

Amy Yang, MD

Chanan Stauffer, MS, RN, NP-C

Hetanshi Naik, MS, CGC

Natasha Zeid, MS, CGC

Carol Fisher, BA, RN

Kim Bardillon, BS

Lauren Powledge, LCSW

Contact Us

schedule an appointment

Office address:
1428 Madison Avenue (cross street 99th)
Atran Building, 1st floor
New York, NY 10029
Telephone: 212-241-0915
Fax: 212-426-9065

Infusion suite address:
1184 5th Ave, 2nd floor
New York, NY 10029
Telephone: 212-241-3823

Mailing address:
One Gustave L. Levy Place
Box 1497
New York, NY 10029