Multiple myeloma drug could revolutionize treatment for sickle cell disease

December 17, 2015, North Shore-Long Island Jewish Health System

An established drug for recurrent multiple myeloma might effectively be repurposed to improve the survival and day-to-day lives of patients with devastating sickle cell disease, according to revealing new research by a Feinstein Institute for Medical Research scientist.

The study, by Lionel Blanc, PhD, an assistant investigator at the Feinstein Institute, will be published Dec. 17 in the journal Blood. Dr. Blanc's research, performed in collaboration with the New York Blood Center, Yale School of Medicine and University of Montpellier in France, was the first to identify how the drug pomalidomide increases production of , known to interfere with the so-called "sickling" of red blood cells implicated in sickle cell disease (SCD).

Illuminating pomalidomide's mechanism of action offers proof of concept that the US Food and Drug Administration (FDA)-approved medication could potentially be used to treat SCD, representing better outcomes compared to current drug treatment for the 100,000 Americans with SCD, an inherited disorder causing poor oxygen delivery, organ damage and even death.

"We knew the drug would make fetal hemoglobin, but we didn't know to what extent or how. That was the goal of the study," explained Dr. Blanc, also an assistant professor of molecular medicine and pediatrics at Hofstra North Shore-LIJ School of Medicine and an Allied World St. Baldrick's Scholar.

"We can also say something else - that hydroxyurea, the only FDA-approved drug for , was less effective than pomalidomide and appeared to act through a different mechanism of action," he added. "The current therapy is good, but not everyone responds equally to hydroxyurea, and what we hope with pomalidomide is to improve this."

Pomalidomide, a derivative of thalidomide used in advanced cases of the cancer multiple myeloma, works by killing malignant plasma cells. But Dr. Blanc and his colleagues demonstrated in the new research, performed on stem cells taken from five SCD patients and 120 normal controls, how pomalidomide also generated fetal hemoglobin, the fetal version of the protein in that carries oxygen to body tissues.

In patients with congenital conditions producing anemia such as SCD and beta-thalassemia, fetal hemoglobin is normal, but adult hemoglobin - produced after birth - is abnormal. Therefore, reversing their production of back to fetal hemoglobin can reverse the course of their disease.

In addition to the 100,000 US residents with SCD, the condition also affects millions globally. "I would remind people that anemia impacts 1.6 billion people worldwide, making it a global economic burden," Dr. Blanc notes.

Dr. Blanc and his colleagues in the Division of Hematology/Oncology at Cohen Children's Medical Center of New York plan to launch a clinical trial in the near future in collaboration with other institutions to test pomalidomide, which is taken orally, in young adults with SCD.

Currently, the only potential cures for SCD are gene therapy, still in the experimental stage, or stem cell transplant, but these resource-intense treatments aren't available to the vast majority of patients, particularly in the developing world.

"Our hope is to alleviate the symptoms of by using a pill that could be made available to almost all patients, worldwide," Dr. Blanc said.

Explore further: Thalidomide analog appears worthy opponent of sickle cell disease

Related Stories

Thalidomide analog appears worthy opponent of sickle cell disease

July 18, 2011
A thalidomide analog is shaping up as a safe, worthy opponent of sickle cell disease, Georgia Health Sciences University researchers report.

Gene editing study reveals possible 'Achilles heel' of sickle cell disease

September 16, 2015
Researchers from Dana-Farber/Boston Children's Cancer and Blood Disorders Center have found that changes to a small stretch of DNA may circumvent the genetic defect behind sickle cell disease (SCD). The discovery, published ...

Forcing chromosomes into loops may switch off sickle cell disease

August 14, 2014
Scientists have altered key biological events in red blood cells, causing the cells to produce a form of hemoglobin normally absent after the newborn period. Because this hemoglobin is not affected by the inherited gene mutation ...

Flipping a gene switch reactivates fetal hemoglobin, may reverse sickle cell disease

December 8, 2013
Hematology researchers at The Children's Hospital of Philadelphia have manipulated key biological events in adult blood cells to produce a form of hemoglobin normally absent after the newborn period. Because this fetal hemoglobin ...

Newly discovered gene regulator could precisely target sickle cell disease

October 10, 2013
A research team from Dana-Farber/Boston Children's Cancer and Blood Disorders Center and other institutions has discovered a new genetic target for potential therapy of sickle cell disease (SCD). The target, called an enhancer, ...

Recommended for you

Fabric imbued with optical fibers helps fight skin diseases

February 23, 2018
A team of researchers with Texinov Medical Textiles in France has announced that their PHOS-ISTOS system, called the Fluxmedicare, is on track to be made commercially available later this year. The system consists of a piece ...

Low-calorie diet enhances intestinal regeneration after injury

February 22, 2018
Dramatic calorie restriction, diets reduced by 40 percent of a normal calorie total, have long been known to extend health span, the duration of disease-free aging, in animal studies, and even to extend life span in most ...

Artificial intelligence quickly and accurately diagnoses eye diseases and pneumonia

February 22, 2018
Using artificial intelligence and machine learning techniques, researchers at Shiley Eye Institute at UC San Diego Health and University of California San Diego School of Medicine, with colleagues in China, Germany and Texas, ...

Gut microbes protect against sepsis—mouse study

February 22, 2018
Sepsis occurs when the body's response to the spread of bacteria or toxins to the bloodstream damages tissues and organs. The fight against sepsis could get a helping hand from a surprising source: gut bacteria. Researchers ...

Fertility breakthrough: New research could extend egg health with age

February 22, 2018
Women have been told for years that if they don't have children before their mid-30s, they may not be able to. But a new study from Princeton University's Coleen Murphy has identified a drug that extends egg viability in ...

Therapy for muscular dystrophy-caused heart failure also improves muscle function in mice

February 22, 2018
Injections of cardiac progenitor cells help reverse the fatal heart disease caused by Duchenne muscular dystrophy and also lead to improved limb strength and movement ability, a new study shows.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.