The Mount Sinai Genetics team conducts clinical trials to improve how we prevent, diagnose, and treat genetic conditions and diseases. Once an approach has shown promise in our laboratories, and governmental approval is granted, we move forward to testing with volunteers. Hundreds of clinical trials in an array of therapeutic areas are conducted throughout the Mount Sinai Health System annually.

Clinical trials help develop new medicines and medical therapies while giving participants an opportunity to receive novel treatments that might otherwise be unavailable.

What are Clinical Trials?

Clinical trials (also called medical research and research studies) are research investigations involving humans that determine if new therapies or new ways of using existing treatments are safe and effective. Most standard therapies used in genetic treatments today began as drugs that were tested in clinical trials.

Typically, clinical trials are conducted in 3 phases:

• Phase 1: determines a drug's side effects and, often, how the drug is broken down and excreted by the body. These trials usually involve a small number of participants.
• Phase 2: gathers preliminary data on whether a drug works in people who have a certain condition/disease, often comparing it to another therapy known to be effective.
• Phase 3: gathers additional information about a drug's safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. These studies typically involve more participants than Phase 1 and Phase 2.

Why Join a Clinical Trial?

Clinical trials provide access to promising treatments or approaches that are often unavailable outside of the clinical trial setting. The treatments studied may be more effective than the current standard treatment. Results from clinical trials may help patients with genetic diseases and disorders in the future and are key to moving the field of genetics research forward.

Who Can Participate in a Clinical Trial?

Each Clinical Trial study has its own rules regarding who can – or cannot – participate. This is called “eligibility.” Your eligibility may be based on your age, gender, overall health, type and stage of genetic disease, treatment history, and other conditions.

In addition to speaking with your doctor, family members, or friends about deciding to join a trial, you can also speak to the study research staff.

What Kind of Clinical Trials Does the Genetics Division Participate in?

Mount Sinai Genetics is actively participating in clinical trials for the conditions outlined below, and has conducted studies on more than 25 kinds of genetic disease to date:

• Acid Sphingomyelinase Deficiency (ASMD)
• Arginase Deficiency
• Hyperammonemia
• Ornithine Transcarbamylase (OTC) Deficiency 
• Phenylketonuria (PKU)
• Porphyrias
• Urea Cycle Disorders