Author Archives: Emma Day

Sickle Cell Disease is Not a Joke

This weekend’s Saturday Night Live skit about the recent historic approvals of potentially curative gene therapies for sickle cell disease is distasteful at best and harmful at worst. Earlier this month, the Food and Drug Administration approved groundbreaking new treatments that could change the lives of thousands. SNL chose to cast a spotlight on this news with a tone-deaf skit depicting a workplace Yankee Swap event in which one of the gifts is the “cure” for sickle cell disease. It is given to an African American character, who quickly trades it for a “Boogie Woogie Santa Claus” toy. The rest of the skit consists of the white characters trying to convince their two Black co-workers to choose the cure over the other Yankee Swap gifts. Their attempts are unsuccessful.

We are disappointed that Saturday Night Live chose to trivialize this landmark moment in history during their program. More than 100,000 people in the United States and millions globally are impacted by this devastating disease, and yet it is one of the few debilitating conditions that you will find people joking about on television. Earlier this year, sickle cell disease was the subject of a lame and insensitive attempt at humor on the HBO Max show Velma and, shortly thereafter, as a quasi-joke-insult by comedian D.L. Hughley on The Daily Show. Some may argue that these references are “just jokes,” but for those impacted by this disease, it is no laughing matter.

Jokes like these undermine the seriousness of this condition. Sickle cell disease (SCD) is an inherited blood disorder and rare disease that affects red blood cells. When these red blood cells become sickle-shaped, or crescent-shaped, they block blood flow to the affected part of the body, causing irreversible organ and tissue damage. When this happens, individuals with sickle cell can suffer from intractable, crippling acute pain called a “crisis” and are at elevated risk for strokes, damage to affected tissue, and all too often, an early death. In fact, a recent study showed the median age of death of those suffering from chronic sickle disease complications was only 43 years.

SNL’s treatment of race in the Yankee Swap skit also misses the mark. Part of the “humor” revolves around the common myth that only Black people can have sickle cell disease. While it does disproportionately impact the Black community, sickle cell does not discriminate. People of all ethnic backgrounds can inherit the disease. In the United States, Hispanic and Latino populations have the second highest incidence, but Asian, Indian, Native American and – yes – White people, can all be born with the disease. On a global scale, sickle cell disease affects people from countries around the world, including Italy, India, the United Kingdom and Jamaica. One doesn’t develop sickle cell disease, nor can one “catch it.” Individuals are born with it, and there is no universal cure.

Why are we joking about a disease as serious as this one? Many people don’t understand the devastating reality of the condition. The onset of sickle cell pain is sudden and debilitating. A pain crisis is relentless and can last for hours or for days. It has been described as feeling like you are walking on hot coals or like shards of glass are traveling through your veins. Far too often, when individuals living with sickle cell disease, or “warriors” as they call themselves, are in crisis and seek medical care in some emergency departments, they face long waiting periods, are accused of exaggerating symptoms for attention, and far, far too often are characterized and treated as if they are drug seekers.

For physicians who are knowledgeable about sickle cell disease and experienced in caring for those living with it, their ability to prescribe the very drugs that will help their patients is hampered by current federal regulations put in place to address the opioid crisis thus limiting how these drugs can be used in cases such as sickle cell. Layer on issues of health care inequity, discrimination and limited access to consistent, comprehensive quality care and the word “crisis” takes on new meaning.

Community-based organizations, such as the 50-plus members of the Sickle Cell Disease Association of America, Inc., spanning 29 states, are on the ground and focused on providing support, resources, and services to serve more than 500,000 children and adults living with or impacted by sickle cell disease.

Sickle cell disease also puts a strain on caregivers and family members, who must fit trips to the emergency room, doctors’ appointments and sick days into the rigors of daily life. Parents of children with sickle cell may lose wages, promotion opportunities or jobs as they try to support their family while attending to pain crises and their child’s care. This pressure can cause personal and professional instability, compromise mental health and wellness, and, in too many cases we have seen, lead to homelessness.

It is for all of the above, and more, that the Sickle Cell Disease Association of America, Inc., condemns the use of sickle cell disease as a punchline. It demeans and ridicules a condition that people are born with and from which they will face devastating health challenges throughout their lifetimes.

Stereotypes and misinformation reinforced by thoughtless comedy have real-life consequences. Sickle cell patients struggle daily to be taken seriously—in school, at work and even playing sports. As we work to change the perception of sickle cell and increase education surrounding this condition, insensitive and inappropriate jokes like these demean, marginalize and disrespect those living with the disease. They work against progress and contribute to the spread of misinformation. As a society, we must do better and treat rare diseases and the people who live with them with the respect they deserve.

Sickle cell is not a joke.
 

Gene Therapy: What You Need to Know (Warrior FAQs)

Two gene therapies were recently approved by the Food and Drug Administration (FDA) to treat sickle cell disease: Casegevy from CRISPR/Vertex and Lyfgenia from bluebird bio. You probably have questions about these new treatment options. Read more below.

Is gene therapy a cure for sickle cell disease?
Gene therapy is a potentially curative therapy. This means that it could act as a cure, but it is too new to say for sure. It causes a big decline in pain episodes, but we need to learn more about long-term impacts and side effects. It is also not a “one-and-done” treatment. The FDA currently recommends 15 years of patient follow up.

How does gene therapy work?

When will it be available?
Likely in early 2024.

Am I eligible for gene therapy?
Casgevy and Lyfgenia are approved for people ages 12 and up. Sickle cell disease SS and S-beta-zero-thalassemia are eligible. The FDA indicates that sickle cell disease SC is not included. Additionally, you may also not be able to receive gene therapy if you have:

  • A recurring viral infection
  • Significant organ damage

Additionally, if you have a matched sibling, you should go down the path of a matched-sibling-donor bone marrow transplant instead of gene therapy. Talk to your doctor about this option.

What are the side effects?
Gene therapy requires you to have chemotherapy. This means it could result in:

  • Infertility or secondary cancer
  • Temporary weakening of the immune system so that you cannot fight off any infections
  • Temporary hair loss

Where can I receive gene therapy?
Treatment will likely be at an existing bone marrow transplant center that also works with sickle cell disease experts. These may be hard to find. SCDAA will be providing a list of facilities, once identified, on our website: sicklecelldisease.org.

How much will it cost? Will insurance cover it?
Gene therapy is expensive, and FDA-approved high-cost medications can come with barriers. Casgevy is estimated to cost $2.2 million, and Lyfgenia is estimated to cost $3.1 million. We are still waiting to hear how insurance companies will handle gene therapies.

Does gene therapy work for all types of SCD?
As far as we know, yes. It is designed to be able to help raise fetal hemoglobin (HbF), which should work for all different kinds of sickle cell disease. However, the amount of experience with the different kinds has not been nearly the same – we know the most for SS and S Beta zero thalassemia types.

Are we the first community to receive gene therapy?
Casgevy is the first approved use of gene editing. However, gene addition therapy has been used to treat other conditions, including:

  • Retinal degeneration
  • Spinal muscular atrophy
  • Beta-thalassemia
  • X-linked Adrenoleukodystrophy
  • Hemophilia A & B
  • Bladder cancer
  • Acute-lymphoblastic leukemia

To learn more about the gene therapies used to treat these conditions, click here.

For a longer (but not complete) list of conditions that have been treated using gene therapy, click here.

Is it safe? How do I know if this is right for me?
For many people, the benefits of this new treatment outweigh the risks. Your doctors will help you determine whether this is a good option for you.

What questions should I ask my doctor?

  • How long will this take?
  • What is the time commitment?
  • Where is the nearest treatment center?
  • What are my other options?

How do I learn more about gene therapy?
There are several resources available. The below sources are considered trustworthy and non-biased by SCDAA.

To learn more about Vertex’s Casgevy, visit casgevy.com. To learn more about bluebird bio’s Lyfgenia, visit my bluebird support.

We encourage you to subscribe to our email list for news and updates.

Updated Dec. 14, 2023, at 11:09 a.m. EST


Please note: A previous version of this FAQ incorrectly stated that Casgevy is approved for people ages 12 and up and Lyfgenia is approved for those ages 12 to 50. This statement has been corrected to note that both Casgevy and Lyfgenia are approved for people ages 12 and up.

SCDAA Statement About Gene Therapy Approval

On Dec. 8, 2023, the Food and Drug Administration (FDA) approved two cell-based gene therapies for sickle cell disease (SCD), Casgevy from CRISPR/Vertex and Lyfgenia from bluebird bio. These are the first treatments of their kind available to individuals with SCD in the United States. SCDAA welcomes the approval of these potentially curative therapies which mark major advances in the treatment of sickle cell disease; however, there are valid concerns about accessibility and the potential for adverse effects.

Dr. Lewis Hsu, chief medical officer of the Sickle Cell Disease Association of America Inc. said:

We at the Sickle Cell Disease Association of America Inc. celebrate that two gene therapies are approved for sickle cell disease by the FDA today, Dec. 8. This double milestone was a long time coming, and sickle cell disease now joins the ranks of other genetic diseases with gene therapy treatments. Sickle cell disease was called “the first molecular disease” about 70 years ago, and a gene therapy treatment was predicted for sickle cell disease in the 1950s when DNA was first described.

These two gene therapies mark a big step forward for sickle cell disease research and treatment. The results of the clinical trials are very impressive. The patients selected had a lot of pain (two or more vaso-occlusive crisis pain hospitalizations per year for two years). The data show that, after gene therapy was administered, nearly all patients were free of hospitalizations for vaso-occlusive crises for at least nine consecutive months. The patients’ health-related quality of life also improved in every way: physically, emotionally, socially and functionally with both gene therapies.

Regina Hartfield, president and CEO of the Sickle Cell Disease Association of America Inc. said:

Gene therapy is an exciting and potentially curative addition to the treatments available to sickle
cell warriors. This is a historic milestone, but everyone may not be eligible for gene therapy.
We must continue to move forward with research to ensure that there is a solution for every member of our community.

Is gene therapy a cure for sickle cell disease?
The Sickle Cell Disease Association of America Inc. recognizes gene therapy as a “potentially curative” therapy. The treatment is so new that more data is needed to understand its impact and patient prognosis. Additionally, the word “cure” suggests a simple solution that does not reflect the reality of these therapies. Even after completing treatment, the FDA recommends 15 years of patient monitoring for health issues.

What is the treatment like?
The patient journey will be similar for both Casgevy and Lyfgenia. Gene therapy is administered during a one-time infusion; however, there are steps that patients must take to prepare for the treatment. First, the patient’s care team will collect stem cells, which are the progenitors of red blood cells, from their body. Then, those cells will be treated in a lab. The patient will undergo chemotherapy to remove the original, abnormal stem cells from the bone marrow. After this process is complete, the treated stem cells are injected back into the patient through an intravenous process like a transfusion (not surgery). The whole procedure takes about a year. It is similar to autologous bone marrow transplantation, as there is no need to find a donor of stem cells.

What is the difference between the two therapies?
The two gene therapy strategies are scientifically different. Casgevy is gene editing, the first of its kind, and Lyfgenia uses gene addition. Both gene therapy strategies have about the same patient journey and potential issues: access, cost, infertility, unknown possibility of organ damage and unknown long-term effects.

How effective is it?
Gene therapy provides a significant reduction in acute episodes of sickle cell pain within a few years of administration. More years of follow-up will be needed to determine whether it will also reduce the organ damage of sickle cell disease and if the stem cells treated with continue to produce non-sickling red blood cells for the rest of the person’s life, or if the stem cells die off over a certain number of years. Currently the treatment requires chemotherapy, which means there are also concerns about chemotherapy-associated complications, such as infertility or secondary cancer.

When will gene therapy be available for use?
Gene therapy will likely be available in early 2024.

Who is eligible?
Casgevy and Lyfgenia are approved for people ages 12 and up. Sickle cell disease SS and S-beta-zero-thalassemia are eligible. The FDA indicates that sickle cell disease SC is not included. Additionally, individuals may also not be able to receive gene therapy if they have:

  • A recurring viral infection
  • Significant organ damage

Where is gene therapy administered?
Individuals with SCD can receive gene therapy at existing bone marrow treatment facilities with sickle cell expertise, which may pose accessibility issues to patients. SCDAA encourages gene therapy centers to partner with sickle cell centers, such as in the National Alliance of Sickle Centers, so that there is expertise to monitor for sickle cell organ damage.

How much will it cost? Will insurance cover gene therapy?
Gene therapy treatments are produced through expensive, highly technical processes. Casgevy is estimated to cost $2.2 million, and Lyfgenia is estimated to cost $3.1 million. However, the high price should be worthwhile as the savings in lifelong care may exceed the one-time cost of gene therapy. FDA-approved high-cost medications come with insurance barriers and rules that are not evidence-based.

What do these approvals mean for people living with sickle cell?
These approvals are expected to be life-changing for many and usher in a new age of treatment for sickle cell disease. Until now, the only way to cure sickle cell disease was through a bone marrow transplant, which is not a widely accessible option because it requires a matched bone marrow donor. Gene therapy does not require a donor; therefore, it has the potential to be a more widely available treatment.

What does it mean for sickle cell treatment in the future?
Casgevy and Lyfgenia are the first gene therapy treatments approved by the FDA for sickle cell disease. They open the door for other gene therapies to gain approval and help advance research into other potentially curative treatments. At the same time, there are concerns that these approvals will create an increase in competition for health care resources that could make it difficult to access other forms of treatment outside of gene therapy. Many people will not be eligible to receive gene therapy. To provide the highest quality of care to these individuals, we need to continue research into a variety of treatment options beyond gene therapy.

What are the implications for the medical community at large?
More broadly, Casgevy is the first FDA-approved CRISPR gene editing therapy for a genetic disease. This could have wide-reaching impacts for individuals with other conditions like cystic fibrosis, Tay-Sachs disease and others.

Where can I find more information?
Research into Casgevy and Lyfgenia specifically is ongoing; however, there is a wide variety of information about gene therapy for sickle cell disease available as it relates to clinical trials.

To learn more about Vertex’s Casgevy, visit casgevy.com. To learn more about bluebird bio’s Lyfgenia, visit my bluebird support.

Updated Dec. 14, 2023, 11:12 a.m. EST

Gene Therapy is Approved!

We are very excited to share that today, Dec. 8, the Food and Drug Administration approved two gene therapies to treat sickle cell disease! These potentially curative therapies are the first treatments of their kind available to individuals with SCD. We are heartened by this approval and are proud to support our community during this milestone moment. SCDAA will be releasing a full statement and additional information for patients and caregivers soon. To learn more about these approvals, click here.

 

 

Exa-cel Gene Therapy is Approved!

Art by Hertz Nazaire

Today, Dec. 8, the Food and Drug Administration approved exa-cel gene therapy for sickle cell disease, making it the first treatment of its kind available to individuals with SCD in the United States. The approval of this potentially curative therapy marks a major advance in the treatment of sickle cell disease; however, there are valid concerns about accessibility and the potential for adverse effects. SCDAA has published a variety of information to help you learn more about this new treatment option.

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Exa-cel: What You Need to Know

Exa-cel gene therapy was recently approved by the Food and Drug Administration to treat sickle cell disease. You probably have questions about this new treatment option. Read more below.

Is this a cure for sickle cell disease?

Exa-cel is a potentially curative therapy. This means that it could act as a cure, but it is too new to say for sure. Exa-cel causes a big decline in pain episodes, but we need to learn more about long-term impacts and side effects. It is also not a “one-and-done” treatment. The FDA currently recommends 15 years of patient follow up.

How does exa-cel work?

When will it be available?

Likely in early 2024.

Am I eligible for gene therapy?

Exa-cel is approved for people ages 12 and up, but not everyone is eligible. You may not be able to receive exa-cel if you have:

  • a recurring viral infection
  • a different genotype (like HBSC)
  • significant organ damage

Additionally, if you have a matched sibling, you may want to go down the path of a matched-sibling-donor bone marrow transplant instead of gene therapy. Talk to your doctor about this option.

What are the side effects?

Exa-cel also requires you to have chemotherapy. This means it could result in infertility or secondary cancer. Temporary weakening of the immune system so that you cannot fight off any infections. Temporary hair loss.

Where can I receive gene therapy?

You can only receive treatment at an existing bone marrow treatment facility that works with sickle cell disease. These may be hard to find. SCDAA will be providing a list of facilities, once identified, on our website: sicklecelldisease.org.

How much will it cost? Will insurance cover it?

Gene therapy is expensive, and FDA-approved high-cost medications can come with barriers. We are still waiting to hear how insurance companies will treat exa-cel.

Does exa-cel work for all types of SCD?

As far as we know, yes. It is designed to be able to help raise fetal hemoglobin (HbF), which should work for all different kinds of sickle cell disease. However, the amount of experience with the different kinds has not been nearly the same – we know the most for SS and S Beta zero thalassemia types.

Are we the first community to receive gene therapy?

No. Gene therapy has been used to treat other conditions, including:

  • Retinal degeneration
  • Spinal muscular atrophy
  • Beta-thalassemia
  • X-linked Adrenoleukodystrophy
  • Hemophilia A & B
  • Bladder cancer
  • Acute-lymphoblastic leukemia

To learn more about the gene therapies used to treat these conditions, click here.

For a longer (but not complete) list of conditions that have been treated using gene therapy, click here.

Is it safe? How do I know if this is right for me?

For many people, the benefits of this new treatment outweigh the risks. Your doctors will help you determine whether this is a good option for you.

What questions should I ask my doctor?

  • How long will this take?
  • What is the time commitment?
  • Where is the nearest treatment center?
  • What are my other options?

How do I learn more about gene therapy?

There are several resources available. The below sources are considered trustworthy and non-biased by SCDAA.

We encourage you to subscribe to our email list for news and updates.

SCDAA Statement on Exa-cel Approval

On Dec. 8, 2023, the Food and Drug Administration (FDA) approved exagamglogene autotemcel (exa-cel) gene therapy for sickle cell disease (SCD), making it the first treatment of its kind available to individuals with SCD in the United States. The approval of this potentially curative therapy marks a major advance in the treatment of sickle cell disease; however, there are valid concerns about accessibility and the potential for adverse effects.

“Exa-cel marks a big step forward for sickle cell disease research and treatment,” said Dr. Lewis Hsu, chief medical officer of the association. “The results of the clinical trial are very impressive. The patients selected had a lot of pain (two or more vaso-occlusive crisis pain hospitalizations per year for two years). The data shows that, after exa-cel was administered, 29 out of 30 (96.7%) patients were free of vaso-occlusive crises for at least nine consecutive months. The patients’ health-related quality of life also improved in every way: physically, emotionally, socially and functionally.”

“Exa-cel is an exciting and potentially curative addition to the treatments available to sickle cell warriors,” said Regina Harfield, president and CEO of the association. “This is a historic milestone, but everyone may not be eligible for exa-cel therapy. We must continue to move forward with research to ensure that there is a solution for every member of our community.”

What is exa-cel, and how does it work?

Exa-cel (formerly CTX001) is a genetic therapy that uses CRISPR-Cas9 to disrupt the BCL11A gene in red blood cell precursors in the bone marrow. The BCL11A gene’s function is to tell red blood cells to stop producing fetal hemoglobin after birth. Exa-cel therapy locates the gene and cuts into it, effectively “turning it off.” As a result, red blood cells will have fetal hemoglobin again, which reduces the damage from sickle hemoglobin.

Is this a cure for sickle cell disease?

SCDAA recognizes exa-cel as a “potentially curative” therapy. The treatment is so new that more data is needed to understand its impact and patient prognosis. Additionally, the word “cure” suggests a simple solution that does not reflect the reality of this therapy. Even after completing treatment, the FDA recommends 15 years of patient monitoring for health issues.

What is the treatment like?

Exa-cel is administered during a one-time infusion; however, there are steps that patients must take to prepare for the treatment. First, the patient’s care team will collect stem cells, which are the progenitors of red blood cells, from their body. Then, those cells will be edited in a lab. The patient will undergo chemotherapy to remove the original, abnormal stem cells from the body. After this process is complete, the treated stem cells are injected back into the patient through an intravenous process like a transfusion (not surgery). The whole procedure takes about a year.  It is similar to autologous bone marrow transplantation, as there is no need to find a donor of stem cells.

How effective is it?

Exa-cel provides a significant reduction in acute episodes of sickle cell pain within a few years of administration. More years of follow-up will be needed to determine whether exa-cel will also reduce the organ damage of sickle cell disease and if the stem cells treated with exa-cel continue to produce non-sickling red blood cells for the rest of the person’s life, or if the stem cells die off over a certain number of years. Currently the treatment requires chemotherapy, which means there are also concerns about chemotherapy-associated complications, such as infertility or secondary cancer.

When will it be available for use?

Exa-cel will likely be available in early 2024.

Who is eligible?

It is approved for use in individuals ages 12 and up. At this time, we are unsure of what the prerequisites will be for gene therapy. Additionally, a portion of the SCD population will not be eligible for the treatment, including individuals with HBSC, which represents a third of the SCD U.S. population.

Where is gene therapy administered?

Individuals with SCD can receive gene therapy at existing bone marrow treatment facilities with sickle cell expertise which may pose accessibility issues to patients. SCDAA encourages gene therapy centers to partner with sickle cell centers, such as in the National Alliance of Sickle Centers, so that there is expertise to monitor for sickle cell organ damage.

How much will it cost? Will insurance cover gene therapy?

Gene therapy treatments are produced through expensive, highly technical processes. The cost estimates for treatment are $2 million and up. The high price may be worthwhile as lifelong care may exceed the one-time cost of gene therapy.  FDA-approved high-cost medications come with insurance barriers and rules that are not evidence-based.

What does this approval mean for people living with sickle cell?

This approval is expected to be life-changing for many and ushers in a new age of treatment for sickle cell disease. Until now, the only way to cure sickle cell disease was through a bone marrow transplant, which is not a widely accessible option because it requires a matched bone marrow donor. Gene therapy does not require a donor; therefore, it has the potential to be a more widely available treatment.

What does it mean for sickle cell treatment in the future?

Exa-cel is the first gene therapy treatment approved by the FDA for sickle cell disease. It opens the door for other gene therapies to gain approval and helps advance research into other potentially curative treatments. At the same time, there are concerns that this approval will create an increase in competition for health care resources that could make it difficult to access other forms of treatment outside of gene therapy. Many people will not be eligible to receive exa-cel and/or other forms of gene therapy. To provide the highest quality of care to these individuals, we need to continue research into a variety of treatment options beyond gene therapy.

What are the implications for the medical community at large?

More broadly, exa-cel is the first FDA-approved CRISPR therapy for a genetic disease. This could have wide-reaching impacts for individuals with other conditions like cystic fibrosis, Tay-Sachs disease and others.

Where can I find more information?

Research into exa-cel specifically is ongoing; however, there is a wide variety of information about gene therapy for sickle cell disease available as it relates to clinical trials.

SCDAA Statement on Exa-cel Gene Therapy

On October 31, 2023, the Food and Drug Administration is poised to make a landmark decision about exagamglogene autotemcel (exa-cel) gene therapy for sickle cell disease. The Sickle Cell Disease Association of America holds the position that the approval of this therapy would be a major advance in the treatment of sickle cell disease; however, there are valid concerns about accessibility and the potential for adverse effects.

What is exa-cel, and how does it work?

Exa-cel (formerly CTX001) is a genetic therapy that uses CRISPR-Cas9 to disrupt the BCL11A gene in red blood cell precursors in the bone marrow. The BCL11A gene’s function is to tell red cells to stop producing fetal hemoglobin after birth. Exa-cel therapy locates the gene and cuts into it, effectively “turning it off.” As a result, red blood cells will have fetal hemoglobin again, which reduces the damage from sickle hemoglobin.

What is the treatment like?

Exa-cel is administered during a one-time infusion; however, there are steps that patients must take to prepare for the treatment. First, the patient’s care team will collect stem cells, which are the progenitors of red blood cells, from their body. Then, those cells will be edited in a lab. The patient will undergo chemotherapy to remove the original, abnormal stem cells from the body. After this process is complete, the treated stem cells are injected back into the patient during a process that is kind of like a transfusion (not surgery). The whole procedure is similar to autologous bone marrow transplantation, as there is no need to find a donor of stem cells. The Food and Drug Administration then recommends 15 years of monitoring for health issues post-treatment.

How effective is it?

Exa-cel provides a big reduction in acute episodes of sickle cell pain, on the timescale of a few years. Exa-cel has the potential to serve as a functional “cure” for sickle cell disease, but there are several unknowns. More years of follow-up will be needed to show whether exa-cel will also reduce the organ damage of sickle cell disease. Can the stem cells treated with exa-cel continue to produce non-sickling red blood cells for the rest of the person’s life, or will the stem cells die off over a certain number of years? Currently the treatment requires chemotherapy, which means there are also concerns about chemotherapy-associated complications, such as infertility or secondary cancer.

How accessible is it?

The high cost of gene therapy and eligibility restrictions are two of the main barriers we anticipate. Gene therapy treatments are produced through expensive, highly technical processes. The cost estimates are $2 million and up. The high price tags may be worthwhile, but FDA-approved high-cost medications come with insurance barriers and rules that are not evidence-based. Additionally, a large portion of the population will not be eligible for the treatment, including individuals with HBSC, which represents a third of U.S. population. We need to be careful that increasing the accessibility of gene therapy doesn’t reduce the accessibility of other sickle cell treatment options.

What does it mean for people living with sickle cell?

If the FDA approves exa-cel gene therapy for sickle cell disease, it could be a life-changing decision for many. Until now, the only way to cure sickle cell disease was through a bone marrow transplant, which is not a widely accessible option because it requires a matched bone marrow donor. Gene therapy does not require a donor; therefore, it has the potential to be a more widely available treatment. The approval of exa-cel would usher in a new age of treatment for sickle cell disease.

What does it mean for sickle cell treatment in the future?

Exa-cel would be the first gene therapy treatment approved by the FDA for sickle cell disease. It would open the door for other gene therapies to gain approval and help advance research into other potentially curative treatments. At the same time, there are concerns that the approval will create an increase in competition for health care resources that could make it difficult to access other forms of treatment outside of gene therapy. The eligibility criteria for exa-cel treatment have not yet been decided but may exclude people who have a viral chronic infection that could reactivate with the treatment. Others might be ineligible because they have a different genotype (HBSC) or have suffered too much organ damage already. Others might be too old or too young. It will be important to take good care of the body while waiting for possible gene therapy.

Will exa-cel affect the children of the person who was treated?

No, it should not. Exa-cel would treat only the stem cells that make blood cells. The eggs and sperm would not be touched by exa-cel. The genes of the eggs or sperm would still carry sickle cell genes to the children of the person who was treated with exa-cel, and their children could inherit the trait or have SCD.

What are the implications for the medical community at large?

More broadly, exa-cel would become the first FDA-approved CRISPR therapy for a genetic disease. This could have wide-reaching impacts for individuals with other conditions like cystic fibrosis, Tay-Sachs disease and others.

CDC SCD Pregnancy Fact Sheets

Learn more about how to stay healthy leading up to, during and after a pregnancy with these newly developed fact sheets from the Centers for Disease Control and Prevention (CDC), the Foundation for Women & Girls with Blood Disorders, the American Society of Hematology and the Sickle Cell Reproductive Health Education Directive.

NOW IN SPANISH!

 

In Memory of Dr. Lennette Benjamin

The Sickle Cell Disease Association of America, Inc., (SCDAA) is saddened to hear the news of the passing of Dr. Lennette Benjamin. Dr. Benjamin was a trailblazing physician who made many outstanding contributions to the sickle cell community. She was one of the first to establish a “day hospital” as an alternative to the emergency room for pain management – an approach that is today recognized as a best practice in care.  

Prior to her retirement, Dr. Benjamin led the Montefiore Sickle Cell Center for Adults in the Bronx, New York. She was an SCDAA board member emeritus and served on the SCDAA Medical and Research Advisory Committee. 

Dr. Benjamin was also a dedicated advocate and mentor. She made a global impact and raised sickle cell awareness in West Africa, Brazil and beyond. “She was always looking out for others, patients and peers alike,” recalls Dr. Lewis Hsu, SCDAA chief medical officer. “She was full of warm advice and expert guidance.”

Dr. Benjamin passed away in Houston, Texas on Oct. 20 at the age of 82. To share your sympathies, please click here.

SCDAA’s National Office and Board of Directors pay tribute to Dr. Benjamin’s outstanding life and career and send our deepest condolences to her family, friends and loved ones.