The Mount Sinai Center for Sickle Cell Disease partners with leading researchers throughout the nation to offer patients the opportunity to participate in research studies aimed at improving patient outcomes and quality of life. We also focus on big data, small data, and basic science research. Ultimately, our goal is to cure sickle cell disease while making lives better for patients.
Learning Which New Medications Work Best
Mount Sinai is the lead site for the $12 million, National Institutes of Health (NIH)-funded, REAL Answers study, which will enroll 1200 people living with sickle cell disease and follow them to learn which new medications work best, in which combinations, and for which patients. Normally, randomized controlled clinical trials are used to answer questions like this, but they are expensive and time consuming. For a rare disease like sickle cell disease, randomized controlled clinical trials cannot generate answers quickly enough to help patients now. The REAL Answers study uses a technique called “target trial emulation,” which allows researchers to answer dozens of questions in just a few years.
Measuring Sickle Cell Disease Severity Through the Eye
A major barrier to progress in sickle cell disease is that there is no universally effective way to measure how bad someone’s sickle cell disease is and whether they are responding to treatment. Researchers at Mount Sinai have discovered a way to measure sickle cell disease by imaging blood flow in the eye. In the Sickle Cell Disease REVIVE study, funded by a $4 million grant from NIH, Jeffrey Glassberg, MD, and his team will validate this new method of measuring sickle cell disease. Ultimately, we hope that this technique will enable us to more quickly find treatment regimens that fit each patient’s needs.
Novel Approaches to Chronic Pain
With the advent of new medications to treat sickle cell disease and gene therapy cures, doctors have more tools than ever to help people with sickle cell disease live longer. But one major, unaddressed problem is chronic pain. More than half of people with sickle cell disease live with chronic pain, and new medications typically are not effective. Researchers at Mount Sinai are exploring several approaches, including clinical trials of oral cannabinoids and translational studies to understand the mechanisms of chronic sickle cell disease pain.
The Role of the Gut Microbiome in Sickle Cell Disease
The gut microbiome has emerged as one of the most important factors regulating the prevention, development and maintenance of human health and disease, and sickle cell disease is no different. The single greatest factor associated with longevity in sickle cell disease is organ injury. Unfortunately, while newer sickle cell disease medications improve symptoms and laboratory test results, they do not appear to improve markers of organ injury. Researchers at Mount Sinai have discovered that the gut microbiome may play a key role in mediating organ injury in sickle cell disease. Our studies include investigations of dietary modification, antibiotics and vaccines to promote growth of healthy bacteria in the gut while suppressing activity of bacteria that cause disease.
A Definitive Cure for All Patients
Sickle cell disease can be cured by bone marrow transplant or ex vivo gene therapy. Unfortunately, these methods require chemotherapy, a month-long stay in the hospital, render patients unable to have children, and carry a small risk of death and cancer. While bone marrow transplant and ex vivo gene therapy work, they are only suitable for the most severe cases of sickle cell disease. Dr. Glassberg and his team are working on a novel approach to gene therapy, by editing the KLF1 gene. This method would allow for an in vivo gene therapy, a drug that could be injected, without chemotherapy, to cure the disease for all patients, not just those with the most severe disease.
Clinical Trials
We collaborate with other leading organizations to offer innovative clinical trials to our sickle cell disease patients.
Current and upcoming trials:
BO42451, A randomized double-blind Phase 2A study evaluating the efficacy, safety, pharmacokinetics, and pharmacodynamics of crovalimab as adjunct treatment in prevention of acute vaso-occlusive episodes (VOE) in sickle cell disease (Industry sponsor: F. Hoffmann-La Roche)
BO42452, A Phase 1B randomized, placebo-controlled study evaluating the safety, pharmacokinetics, pharmacodynamics, and efficacy of crovalimab for the management of acute vaso-occlusive episode (VOE) in patients with sickle cell disease (Industry sponsor: F. Hoffmann-La Roche)