Scientists are seeing promising early results from the first studies testing gene editing for painful, inherited blood disorders that plague millions worldwide, especially Black people.
Doctors hope the one-time treatment, which involves permanently altering DNA in blood cells with a tool called CRISPR, may treat and possibly cure sickle cell disease and beta-thalassemia.
Partial results were presented Saturday at an American Society of Hematology conference and some were published by the New England Journal of Medicine.
News is evolving rapidly about COVID-19 and COVID-19 vaccines. Early results from the COVID-19 vaccine trials are very promising, although the true benefits and risks will not be known until a larger number of people receive the vaccine.
The Centers for Disease Control and Prevention (CDC) lists sickle cell disease (SCD) as one of the populations vulnerable to severe COVID-19. Sickle cell disease raises the risk for serious problems with COVID-19, especially when compared to the same age in the general population.
The last thing a lot of people want to do these days is get on a plane. But even a pandemic would not stop Victoria Gray. She jumped at the chance to head to the airport this summer.
"It was one of those things I was waiting to get a chance to do," says Gray.
She had never flown before because she was born with sickle cell disease. She feared the altitude change might trigger one of the worst complications of the devastating genetic disease — a sudden attack of excruciating pain.
But Gray is the first person in the United States to be successfully treated for a genetic disorder with the help of CRISPR, a revolutionary gene-editing technique that makes it much easier to make very precise changes in DNA.
In response to Graphite Bio’s investigational new drug (IND) application for its gene editing therapy, GPH101, the FDA will allow the pharmaceutical company to initiate a phase I/II trial in patients with sickle cell disease (SCD).
Aimed at curing SCD by targeting the gene mutation that causes damaged and sickled red blood cells, GPH101 uses CRISPR technology to cut out this mutation in the beta-globin gene and paste in the wild-type DNA sequence. The CEDAR trial will evaluate the safety, preliminary efficacy, and pharmacodynamics of GPH101 in adult and adolescent patients with severe SCD. “We are eager to initiate enrollment for the CEDAR clinical trial in early 2021, which will be a historic milestone as the first experimental treatment designed to correct the mutation that is the underlying cause of sickle cell disease,” said Graphite Bio CEO Josh Lehrer, MPhil, MD.
YARR Leadership Academy is providing a series of on-line courses offered to a select group of young adults in the rare disease community (ages 18-29). Academy students will learn about the roles and opportunities for patient representation in policy making, drug development and the regulatory process and the steps it takes to get there.
Timeline/Dates:
Application open Jan 1st-Feb 15th, 2021.
Deadline to apply on Feb. 15th, 2021 @5pm ET.
All applicants will be notified by March 1st, 2021.
The toolkit is designed to help CBOs educate their communities.
These CBOs could include social service organizations, faith-based organizations, YMCAs/YWCAs, fraternities, school organizations (e.g., PTAs/PTOs), meal delivery services, senior centers, and others.
Soon the communities you serve will have access to vaccines to help protect against COVID-19. CDC has designed a toolkit to help community-based organizations (CBOs) educate communities about this important new prevention tool.
The International Association of Sickle Cell Nurses and Professional Associates, Inc. has established a college scholarship program to assist individuals living with Sickle Cell Disease who will be attending an institution of higher learning in the United States.
Applicants for IASCNAPA's $1,500 Scholarships must be enrolled in, or have been accepted by a recognized and accredited post- secondary school, including college, university, trade school, or other institution of higher learning. Curriculum choice, age, gender, race, ethnic background, religion and political affiliation will not be used in evaluating applications.
Applications are accepted from March 1 through July 1 of each year. Awards will be given in August of each year. The number of scholarships awarded each year is dependent on available funds and the quality of applications.
bluebird bio, Inc. suspended its clinical trialexternal link exploring the curative potential of genetic therapy for sickle cell disease using its lentiviral vector (gene therapy delivery system), because two research participants in this trial developed myeloid neoplasms following gene therapy. Out of an abundance of caution, the National Heart, Lung, and Blood Institute (NHLBI), part of the NIH, has paused participant enrollment and gene transfers in an NHLBI-funded trial at the Boston Children’s Hospital, Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for Sickle Cell Diseaseexternal link.
Since this trial began in February 2018, nine individuals with sickle cell disease have been treated. The Boston Children’s trial uses a different, yet related, vector, and targets a different gene than those used in the bluebird bio, Inc. trial. However, despite having no indications of such harm in the Boston Children’s trial, NHLBI is taking this action following the announcement that bluebird bio, Inc. temporarily suspended its study.
The Cure Sickle Cell Initiative (CureSCi) Standard Forms/Common Data Elements (CDEs) working groups have released draft standard forms and CDEs (Pre-Release of Version 1.0) for public review. The working groups are in the process of finalizing these documents and strongly encourage input during this public review period.
The goals are to support the National Institutes of Health (NIH) data-sharing roadmap and to address challenges of varied data collection standards and difficulties in comparing data between studies. CDEs are recommended by the NIH Strategic Plan for Data Science to improve data quality, facilitate collection of data, data-sharing and comparison and reduce study start-up time and overall study cost.
Please note: A previous version of this advisory incorrectly stated that MARAC is aware of three cases of leukemia and other cancer-like conditions in patients who have undergone gene therapy. MARAC is only aware of two such cases. The below statement has been updated accordingly.
May 15, 2021 – The Sickle Cell Disease Association of America’s Medical and Research Advisory Committee is aware of two cases of leukemia or other cancer-like conditions in people who have undergone gene therapy for sickle cell disease. This is more than would be expected given the small number of individuals who have undergone gene therapy to date. It is unclear why cancer developed in these individuals. The mission of SCDAA is to promote the best interests of individuals living with SCD. Accordingly, SCDAA MARAC urges action in three directions:
1. Informing patients, families and others about the current understanding of cancer risk as it pertains to sickle cell disease in a clear and accurate way.
Educate individuals with SCD who are participating in gene therapy (gene editing as well as lentiviral gene transfer) and other stem cell transplants (bone marrow therapies). Ensure that the consent forms reflect the recent findings and potential risks of leukemia and MDS.
Educate the greater SCD community by providing cancer risk estimates in the general population of individuals with SCD treated with other types of therapies.
Enlist experts in cancer genetic risk communication (e.g., NCI) and SCD stakeholders to develop education about risks of cancer in SCD.
2. Funding for research to better understand and address cancer-related risks of gene therapy and stem cell transplant (bone marrow therapies) in sickle cell disease.
Understand whether sickle cell disease intrinsically involves an increased risk of cancer; and, if so, what causes the increased risk.
Identify people living with sickle cell disease who are at increased risk for the development of cancer as they undergo “bone marrow therapies.”
Identify components of “bone marrow therapies” that increase risk of cancer.
Bring together scientific experts from the fields of SCD, cancer, stem cell transplant and gene therapy to answer these questions.
3. Funding for and creation of a way to collect information about cancer-related risks from all studies that involve “bone marrow therapies” for sickle cell disease globally.
