General FAQs

General

General
What is the Cure Sickle Cell Initiative?

The Cure Sickle Cell Initiative is a collaborative, patient-focused research effort designed to accelerate promising genetic therapies to cure sickle cell disease (SCD). The Initiative allows us to rethink the traditional ways that we advance research and brings together the SCD community—including patients, advocates, caregivers, researchers, providers, industry, and others.  Launched in September 2018 by the National Heart, Lung, and Blood Institute (NHLBI), the Initiative aims to transform the lives of individuals living with SCD by moving the most promising therapies safely into clinical trials within five to ten years.

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How does the Cure Sickle Cell Initiative work?

The NHLBI-led Cure Sickle Cell Initiative fosters a collaborative, patient-focused research environment that will identify and support the most promising and innovative genetic therapies to cure sickle cell disease. To that end, NHLBI will engage patients, families, advocates, and researchers from academia and the pharmaceutical industry, to leverage resources and fill in gaps that cannot be covered by traditional funding strategies. The Initiative’s support is in addition to NHLBI’s broader sickle cell disease research investment that aims to improve the lives of patients.

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What are some of the cures that the Cure Sickle Cell Initiative is targeting?

Currently, bone marrow transplants are the only cure for sickle cell disease. In this procedure a sick patient receives bone marrow from healthy, genetically compatible sibling donors. However, only about 18 percent of children with sickle cell disease have a healthy, matched sibling donor.

The Cure Sickle Cell Initiative aims to develop cures for all patients who have sickle cell disease and is initially focusing on genetic therapies that modify hematopoietic stem cells (HSCs), which make red and other blood cells. These modified HSCs can then be used in bone marrow transplants, making a cure available to more patients.

There are several genetic therapy approaches in early stages of development.   The Initiative aims to bring the most promising ones to U.S. Food and Drug Administration (FDA) review and approval to begin enrolling patients in clinical trials within five to ten years.

The Initiative will also accelerate the development and production of new medicines to increase treatment options for patients around the world. This includes patients who live in areas where environmental conditions may require very stable medicines, and patients for whom genetic therapies may be too risky.

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Community FAQs

Community

Community
What is the Cure Sickle Cell Initiative?

The Cure Sickle Cell Initiative is a collaborative, patient-focused research effort designed to accelerate promising genetic therapies to cure sickle cell disease (SCD). The Initiative allows us to rethink the traditional ways that we advance research and brings together the SCD community—including patients, advocates, caregivers, researchers, providers, industry, and others.  Launched in September 2018 by the National Heart, Lung, and Blood Institute (NHLBI), the Initiative aims to transform the lives of individuals living with SCD by moving the most promising therapies safely into clinical trials within five to ten years.

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What is sickle cell disease?

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with sickle cell disease have a mutation, or change, in a gene that forms abnormal hemoglobin molecules, called hemoglobin S.  This can cause red blood cells to become sickled, or crescent shaped.  Sickle cell disease typically includes a low number of red blood cells, recurrent infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.  

(Source: U.S. Library of Medicine: https://ghr.nlm.nih.gov/condition/sickle-cell-disease#resources)

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Why was the Cure Sickle Cell Initiative created?

Sickle cell disease was first described over 100 years ago, and the molecular basis of the disease was identified in 1949. Several therapies have improved the lives and well-being for some people living with the disease, and although HLA-matched bone marrow transplant in children can be curative, only a small percentage of patients can have the procedure because of the risks and because of the availability of matched donors. Despite some advances, it is estimated that approximately 100,000 Americans and millions of people worldwide are living with SCD.

Decades of basic research on sickle cell disease have laid the groundwork for novel genetic approaches for a widespread cure.  The Cure Sickle Cell Initiative will help develop the most promising next generation therapies to help find cures for those living with this devastating disease.

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What are the goals of the Cure Sickle Cell Initiative?

The Initiative aims to:

  • Create a collaborative, patient-focused research environment.
  • Engage academic researchers, private sector researchers, advocates, patients, and caregivers to develop strategies for cures.
  • Determine the safest, most effective, and most readily and widely adoptable genetic therapies.
  • Move newly developed genetic therapies, including gene-editing approaches, into clinical research within five to ten years.
     

 

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What is the role of NIH and NHLBI? How will this effort impact other sickle cell disease research that is currently being conducted?

The National Institutes of Health (NIH) spends approximately $100 million on sickle cell disease research each year.  The National Heart, Lung, and Blood Institute (part of NIH), has supported SCD research for many years, helping to improve care for patients living with the disease. The Cure Sickle Cell Initiative builds on the legacy of NHLBI-supported research and complements the Institute’s sickle cell disease research investment, including basic, clinical, translational, and implementation science research.  Using the launch of the Initiative in September 2018, and the commitment of $7 million to jumpstart the effort, the NHLBI is continuing to advance the development of technologies that hold promise in finding genetic-based cures.  

NHLBI will continue to fund research being conducted by investigators focused on SCD, and this Initiative will help fill the gaps that cannot be covered by traditional funding methods. The Cure Sickle Cell Initiative will not replace any ongoing efforts; instead, it will complement the Institute’s broader sickle cell disease research investments.

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How does the Initiative differ from other efforts in sickle cell disease?

The Cure Sickle Cell Initiative was developed to identify and support the most promising genetic cures for sickle cell disease.  It is different from other efforts because it builds on the growing number of technological advancements and latest discoveries in genetics to help speed up our drive toward cures. The Initiative and its research partners are working to establish a national data warehouse of genetic therapies for sickle cell disease and look at different approaches to assess both clinical and cost effectiveness.

The Initiative recognizes the critical voices of patients, advocates, and caregivers, and every aspect of this effort is informed by those most affected by sickle cell disease.  The Cure Sickle Cell Initiative fosters a collaborative, patient-focused research environment where patients, families, advocates, and researchers from academia and industry are working together to find genetic cures.

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How will people living with sickle cell disease be involved in the Initiative? Will children be included?

We recognize the vital role of people living with sickle cell disease in our efforts to find new cures. Their engagement is a critical component of the Initiative and people living with SCD will work alongside researchers in not only setting the research agenda, but also in finding ways to educate and recruit patients to participate in clinical trials.  Patient representatives are involved at every level of the Initiative, and we continue to attend advocacy group meetings and conduct listening sessions and focus groups in the community to help guide our efforts.

Genetic based therapies that are being studied for sickle cell disease will require testing.  Our initial efforts are focused on determining safety in adults and once established, and if approved by the Food and Drug Administration (FDA), then we hope to begin trials in children and adolescents.

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How is the Cure Sickle Cell Initiative working to find cures?

Genetic and cell-based therapies hold great promise for sickle cell disease and other genetic disorders. We now have the ability to examine the origins of sickle cell disease in a way that helps us develop new treatments.  The Cure Sickle Cell Initiative will support research within academia and the private sector to identify the most promising cellular and genetic therapies.  The effort extends beyond traditional funding, as it also provides expertise and access to scientific information and materials that researchers might otherwise have to self-fund to advance their work.  The Initiative provides technical assistance and support to the research community as they identify and develop potential cures for SCD.

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What are the cures that the Cure Sickle Cell Initiative is targeting?

The Cure Sickle Cell Initiative aims to develop cures for all patients who have sickle cell disease and it is exploring approaches like gene transfer, gene editing, and small molecules (future approach) as potential therapies.  There are several genetic therapy approaches in early stages of development, and the Initiative is initially focusing on therapies that modify hematopoietic stem cells (HSCs), which make red and other blood cells. These modified HSCs can then be used in bone marrow transplants, making cures widely available to more patients.

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What are genetic therapies?

Genetic therapies are experimental techniques for treating disease by altering the patient’s genetic material.  Most often, genetic therapies work by introducing a healthy copy of a defective gene into the patient’s cells. In the future, these techniques may allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or surgery. Researchers are testing several approaches, including: replacing a mutated gene that causes disease with a healthy copy of the gene; inactivating, or “knocking out,” a mutated gene that is functioning improperly; and introducing a new gene into the body to help fight a disease.  Although gene therapy is a promising new treatment option for many rare  diseases, the technique is still under study to ensure that it will be safe and effective. Genetic therapies are currently being tested for diseases that have no other safe and effective cures.  As of March 2019, the FDA has approved three genetic therapies for use in the United States: one for a rare eye disease and two to treat some types of leukemias and lymphomas.

Sources: https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm
https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm574058.htm
https://www.fda.gov/BiologicsBloodVaccines/CellularGeneTherapyProducts/ApprovedProducts/ucm581222.htm
https://www.genome.gov/genetics-glossary/Gene-Therapy

https://ghr.nlm.nih.gov/primer/therapy/genetherapy

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What is genome editing and CRISPR-Cas9?

Genome editing (also called gene editing) is a group of technologies that gives scientists the ability to change the DNA in a cell. These technologies allow genetic material to be added, removed, or altered at particular locations in the genome. Several approaches to genome editing have been developed: a recent one is known as CRISPR-Cas9, which is short for Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated protein 9. The CRISPR-Cas9 system has generated much excitement in the scientific community because it is faster, cheaper, more accurate, and more efficient than other existing genome editing methods.

CRISPR-Cas9 was adapted from a naturally occurring genome editing system in bacteria. The bacteria capture snippets of DNA from invading viruses and use them to create DNA segments known as CRISPR arrays. The CRISPR arrays allow the bacteria to "remember" the viruses (or closely related ones). If the viruses attack again, the bacteria produce RNA segments from the CRISPR arrays to target the viruses' DNA. The bacteria then use Cas9 (or a similar enzyme) to cut the DNA apart, which disables the virus.

To change the DNA in a person is not currently possible, but it is possible to change the DNA in a sufficient number of some types of cells, like in some of the stem cells of the bone marrow.  The stem cells give rise to mature blood cells and this can be enough to prevent sickle cell disease.  Importantly, this does not change the DNA in the other cells of the body.  Therefore, the person who has this type of gene editing treatment still can pass the disease on to their children.  

Genome editing is of great interest in the prevention and treatment of human diseases and is being explored in a wide variety of diseases, including cystic fibrosis, hemophilia, and sickle cell disease.    

Source:  National Library of Medicine: https://ghr.nlm.nih.gov/primer/genomicresearch/genomeediting

Genome Editing with CRISPR-Cas9 Video:  https://www.youtube.com/watch?v=2pp17E4E-O8

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How are viruses, such as HIV, part of research efforts for genetic cures?

Some genetic therapies are done by collecting bone marrow cells from a patient, correcting the incorrect DNA in the collected cells, and then returning the modified cells to the body.  Researchers have found ways to use non-infectious parts of certain viruses to make the genetic therapies that correct the incorrect DNA. Viruses are used because of their ability to easily transfer DNA into cells.  One approach being studied is using a modified HIV virus to carry or deliver the healthy hemoglobin gene into the body.  This is done by removing the parts of the virus that cause disease and by replacing it with the corrected genetic material (healthy hemoglobin), which is then returned to the patient. HIV is one example of a group of viruses called lentiviruses that, when used in gene therapy are called lentiviral vectors.  Lentiviral vectors do not contain the infectious part of the virus and cannot give you HIV/AIDS. This technique has been used in research for many years to treat various diseases, including Severe Combined Immunodeficiency syndrome (SCID), thalassemia, Wiskott-Aldrich syndrome, as well as treating various cancers.

For more information, visit:  
https://www.asgct.org/education/gene-therapy-basics
https://www.asgct.org/education/blood-disorders

 

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When might new treatments or a cure be available to people living with sickle cell disease?

NIH and NHLBI are funding research and collaborating with researchers to move these potential therapies into clinical trials with people living with sickle cell disease.  Within five to ten years the Initiative expects to move these genetic based therapies safely into clinical trials.  If studies meet the FDA requirements regarding safety and efficacy, then larger trials with more patients will be developed.

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How can I support the effort?

Over the years, patients have been the cornerstone of NHLBI’s research, and the Cure Sickle Cell Initiative is no different. Our combined efforts depend on the inputs, opinions, and suggestions from our diverse stakeholder groups, but most essentially from those living with sickle cell disease.  We cannot seize scientific opportunities and advance cures without the full support and engagement of the patient community.

One of the most significant ways to support the effort is to learn more about the importance of clinical trials and to make an informed decision about participating.  Overcoming barriers to progress, including beliefs surrounding clinical trials participation, are key elements of the SCD community-wide conversations.

To learn more about clinical trials, visit: https://www.nih.gov/health-information/nih-clinical-research-trials-you

Click here for information on NHLBI-sponsored clinical trials in sickle cell disease.

We will be sharing information soon about new opportunities for patient engagement. If you would like to learn more, please reach out through the "Contact" link on www.curesickle.org.

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Researcher FAQs

Researcher

Researcher
What is the Cure Sickle Cell Initiative?

The Cure Sickle Cell Initiative is a collaborative, patient-focused research effort designed to accelerate promising genetic therapies to cure sickle cell disease (SCD). The Initiative allows us to rethink the traditional ways that we advance research and brings together the SCD community—including patients, advocates, caregivers, researchers, providers, industry, and others.  Launched in September 2018 by the National Heart, Lung, and Blood Institute (NHLBI), the Initiative aims to transform the lives of individuals living with SCD by moving the most promising therapies safely into clinical trials within five to ten years.

MORE
How does the Cure Sickle Cell Initiative work?

The NHLBI-led Cure Sickle Cell Initiative fosters a collaborative, patient-focused research environment that will identify and support the most promising and innovative genetic therapies to cure sickle cell disease. To that end, NHLBI will engage patients, families, advocates, and researchers from academia and the pharmaceutical industry, to leverage resources and fill in gaps that cannot be covered by traditional funding strategies. The Initiative’s support is in addition to NHLBI’s broader sickle cell disease research investment that aims to improve the lives of patients.

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Why are you launching this effort now?

This initiative builds on the foundation of advancements in basic science that has been consistently supported by NHLBI and others. That foundational work has brought us to this moment.

The science is now at a point where a focused, collaborative and coordinated approach that includes academia and industry researchers, clinicians, patients, and advocacy groups will help us find a cure within the next five to ten years.

With the growing number of tools available to correct the genetic mutation associated with sickle cell disease, researchers now have an opportunity to develop genetic based curative therapies for a far broader group of patients.

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How is the Cure Sickle Cell Initiative being funded?

NHLBI’s Cure Sickle Cell Initiative is being supported by a variety of funding mechanisms. We plan to leverage existing NIH investments from our intramural and extramural portfolios. NIH will also help facilitate public-private partnerships to help bring new tools and treatments to market.  In addition, NHLBI plans to utilize something referred to as an “Other Transaction Authority (OTA)”. NHLBI expects to be able to fund promising new scientific opportunities over the next few years.

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Why are you using this mechanism to fund this effort?

It allows NHLBI the flexibility it needs to form unique partnerships with a diverse set of stakeholders to accelerate discovery and translation. It provides an opportunity to reach out and work with non-traditional partners, less familiar with working with government. It also allows for a nimbler framework to follow the science and technology and adapt or redirect strategies as needed.  

Basically, the OTA allows NHLBI the ability to build the infrastructure and expertise needed to accelerate treatments aimed at a cure for sickle cell disease.

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Have other agencies used OTA?

Yes, Congress has authorized 11 federal agencies, including HHS and NIH, to use this mechanism. NASA first used this authority in 1958. Most agencies use it for research and development purposes. NIH has used it as far back as 2004 to help stimulate the Nanomedicine Program. More recently, NIH used OTA to help support the launch of the All of Us Program.

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How much funding is involved? Is there any new funding?

NIH spends approximately $100 million on sickle cell disease research each year. Through this Initiative, NHLBI is anticipating supporting development of cell and genetic therapies resources, clinical trials of genetic therapies, comparator analyses of different management strategies, data repositories and resources, and patient and advocate engagement activities related to curative therapies for Sickle Cell. Already NHLBI has committed $7 million to jumpstart the initiative’s research and engagement infrastructure.

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What are some of the cures that the Cure Sickle Cell Initiative is targeting?

Currently, bone marrow transplants are the only cure for sickle cell disease. In this procedure a sick patient receives bone marrow from healthy, genetically compatible sibling donors. However, only about 18 percent of children with sickle cell disease have a healthy, matched sibling donor.

The Cure Sickle Cell Initiative aims to develop cures for all patients who have sickle cell disease and is initially focusing on genetic therapies that modify hematopoietic stem cells (HSCs), which make red and other blood cells. These modified HSCs can then be used in bone marrow transplants, making a cure available to more patients.

There are several genetic therapy approaches in early stages of development.   The Initiative aims to bring the most promising ones to U.S. Food and Drug Administration (FDA) review and approval to begin enrolling patients in clinical trials within five to ten years.

The Initiative will also accelerate the development and production of new medicines to increase treatment options for patients around the world. This includes patients who live in areas where environmental conditions may require very stable medicines, and patients for whom genetic therapies may be too risky.

MORE
What has been the interest from industry in developing new sickle cell treatments? How many manufacturers are there to join in?

There are several pharmaceutical companies that have already expressed interest in working with us.

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