‘We’re Super Fortunate’ – Boy, 8, Living With Rare Blood Disease Since Infancy, No Longer Needs Weekly Blood Transfusions Thanks to New Gene Therapy Treatment

Boy Finds Hope Through New Treatment

• A New York boy diagnosed with a rare blood disorder once needed blood transfusions every few weeks. His only hope was a bone marrow transplant, but with no donor match in sight, his care team turned to an FDA-approved novel treatment, gene therapy.
• According to the National Human Genome Research Institute, gene therapy is a “direct way to treat genetic conditions.” It works by “adding new copies of a gene that is broken, or by replacing a defective or missing gene in a patient’s cells with a healthy version of that gene.”
• Since undergoing this treatment earlier this year, the boy has not needed any blood transfusions.
• During clinical trials for gene therapy to treat beta thalassemia, an inherited blood disorder that occurs when the body fails to make enough hemoglobin – a vital protein making up red blood cells, “89% of patients no longer needed blood transfusions.”
• Clinical trials help doctors discover more effective treatment methods. They also allow patients to try a treatment before it’s approved by the U.S. Food and Drug Administration (FDA), which can potentially be life-changing.

An 8-year-old living with a rare and potentially life-threatening blood disease once needed regular blood transfusions. His only hope for relief rested in a bone marrow transplant, which can not only pose health risks but also could take a long time to secure a donor. Remarkably, he’s since found hope with a new gene therapy treatment that’s brought him several months of relief. “We’re super fortunate,” the boy’s mother, Yusara Ahmed, told CBS News.

Yusef Ahmed, 8, was diagnosed with beta thalassemia, which is an inherited blood disorder that occurs when the body fails to make enough hemoglobin – a vital protein making up red blood cells – the Centers for Disease Control and Prevention explains . The condition can cause low blood count and limit oxygen from reaching tissues throughout the body. It can make the person feel dizzy, have headaches, and have shortness of breath, among other symptoms. Because of beta thalassemia, blood transfusions give the body more red blood cells in short supply. Young Yusef needed blood transfusions every few weeks to avoid further complications. Typically, a bone marrow transplant can help treat the rare blood disorder. Dr. Caitlin Costello , a hematologist and medical oncologist at UC San Diego Health, explains what a bone marrow transplant entails. "It's a procedure which we've spent the last many weeks and months building up to, and your nurse, while you're in the hospital, will bring over basically a bag of blood, and it feels and looks like nothing more than a blood transfusion," Dr. Costello says. During the transplant, patients will be connected to an IV, which will drip donor bone marrow into their system. From there, the bone marrow will enter the body through the bloodstream. Patients will be in the hospital for two to four weeks after the transplant so they can be monitored while the bone marrow fully develops. There may be side effects from the transfusion, such as significant fatigue, nausea, and a weakened immune system, but that's what the medical team is there for. "What we will be seeing happen to patients is that on their blood tests that we check daily, we see that their bone marrow is shutting down," Dr. Costello says. "We see that their immune system is weakening, their bone marrow is no longer producing those immune system cells, their body is no longer producing the blood, the literal gas in their tank, and it's during this time that we're supporting you because we can keep your tank full, we can give you blood transfusions and platelet transfusions as a means to keep you safe." In addition to blood and platelet transfusions, physicians will give patients protective antibiotics to keep them safe while their immune systems are weak and the new bone marrow is growing. WATCH: Understanding bone marrow transplants. One major hurdle to bone marrow transplants is finding a donor. The odds of finding a bone marrow transplant match based on ethnic background for people of color are lower than for white people. According to " Be the Match ," a national marrow donor program, the odds of finding a match based on ethnic background for people of color are lower than those of white people, which is 79%, according to 2021 data. Native Americans have a 60% chance of finding a match, Hispanic or Latino Americans have a 48% chance, Asian Americans have a 47% chance, and Black or African Americans have just a 29% chance of finding a match. Although a bone marrow transplant was on the table, Yusef struggled to find a suitable donor match, even from his twin sister. “Time was passing, and we were not finding any donors,” Yusef’s father, Farrukh Saeed, said. In January, Yusef’s care team turned to gene therapy, which the U.S. Food and Drug Administration approved beti-cel (brand name Zynteglo) in 2022 to treat beta thalassemia. According to the National Human Genome Research Institute, gene therapy is a “direct way to treat genetic conditions.” It works by “adding new copies of a gene that is broken, or by replacing a defective or missing gene in a patient’s cells with a healthy version of that gene.” Yusef’s physician, Dr. Banu Aygun, a hematologist at Cohen Children’s Medical Center, says, “The patient is his own donor. We actually collect the patient’s own stem cells,” he explained. After undergoing gene therapy, Yusef has not needed a blood transfusion since mid-February. During clinical trials, patients diagnosed with beta thalassemia were treated with beti-cel ( Zynteglo ). Children’s Hospital of Philadelphia (CHOP) was one of the qualified treatment centers providing the treatment. “89% of patients treated in the phase three trials no longer needed red blood cell transfusions after receiving gene therapy, while maintaining hemoglobin levels of at least 9 g/dL. The benefits extended across age groups (4 to 34 years) and in those with milder as well as more severe beta globin mutations,” Children’s Hospital of Philadelphia said in a press release. “There is a deep unmet need for a potentially curative treatment option for patients with transfusion-dependent beta thalassemia, whose quality of life is profoundly impacted by both the disease and the current standard of care,” said Dr. Alexis A. Thompson ,  Chief of the Division of Hematology at Children's Hospital of Philadelphia, who was a lead investigator of phase 3 clinical trials and presented before the FDA Advisory Committee ahead of approval.

Helping Patients Better Understand Clinical Trials

• Clinical Trials Can be Life-Saving for Some
• Clinical Trials Need More Minority Patients
• Clinical Trials Give Ovarian Cancer Patients Access to New Treatments
• Clinical Trials Test State-of-the-Art Cancer Treatments
• Clinical Trials and What Statistics Really Mean
• Clinical Trials Using CAR-T Cells Are Extremely Promising

The Value of Clinical Trials

In the U.S., all new drugs must go through clinical trials before the FDA approves them. Although the rewards of clinical trials can be great, they also come with risks. Talking to your doctor about this before enrolling in a trial is important. Some risks to consider include:

• The risk of harm and/or side effects due to experimental treatments
• Researchers may be unaware of some potential side effects of experimental treatments
• The treatment may not work for you, even if it has worked for others

Dr. Beth Karlan , a gynecologic oncologist at UCLA Health, explained to SurvivorNet in a previous interview that clinical trials aim to advance cancer research to the point where the disease becomes manageable, akin to diabetes. “ Clinical trials hopefully can benefit you, but is also providing very, very vital information to the whole scientific community about the effectiveness of these treatments,” Dr. Karlan said . “They can be life-saving. We’ve seen many in the last few years of children and adults who have participated in trials and have had miraculous results,” Dr. Karlan continued. WATCH: Clinical trials can be life-saving. Before you enroll in a trial, it’s important to read the consent documents thoroughly and to ask any questions you may have. The documents will likely contain the following:

• The purpose of the research
• Any risks and benefits expected from the research
• Information about procedures that may cause discomfort (like frequent blood tests)
• Any alternative procedures the patient might consider instead
• How the patient’s information will be kept private
• How long the study is expected to take
• A form confirming you are participating in research voluntarily
• Whether any compensation or additional medical care is available if some injury occurs
• The patient’s rights (like the right to stop research in the middle of the trial)
• Contacts for any patient questions

Patients are allowed to walk away at any time during the trial. Understanding your rights as a voluntary patient is important before you participate in a clinical trial, and understanding that the treatment may not work is also crucial. If you want to participate in a clinical trial, your first step should be to talk with your doctor. They can address many of your initial questions and help you determine if you would make a good participant. Another crucial part of clinical trials is finding the right one for you. SurvirorNet has a resource called the Clinical Trial Finder to help with this. WATCH: Why clinical trials need more minority patients.

Added Hurdles Pediatric Drug Approvals Must Overcome

Although clinical trials are critical parts of the healthcare ecosystem, they can take a long time to complete. Among pediatric clinical trials, the time it takes to get treatments approved can take even longer. Clinical trials for treatments specific to children diagnosed with cancer typically begin “6.5 years after adult trials,” according to the National Pediatric Cancer Foundation. Dr. Cindy Jackson , a pediatrician and chief operating officer at the Institute for Advanced Clinical Trials in Children ( I-ACT for Children ), explained to SurvivorNet why pediatric drug approvals take longer and what can be done to shorten the approval window and expedite care for children in need. Dr. Jackson explains that there is not a whole lot of incentive for pharmaceutical companies to study drugs for children. Children make up a minimal number of people with chronic illnesses or conditions that require serious therapies. “Clinical development is done by for-profit companies,” Dr. Jackson explains. “ “Those for-profit companies sell drugs to help patients, but they also need to make a profit. The market in pediatrics is very, very small. Only 25% of the population is less than 18, and even fewer of those under 18 years old have chronic conditions that will require long-term therapy … there's no market advantage, really.” Legislation passed in the U.S., the Pediatric Research Equity Act (PREA) and Best Pharmaceuticals for Children Act (BPCA), aimed to incentivize drug makers to study treatments for children and required these studies in certain situations, but there is still a lag. Dr. Jackson adds, “Clinical trials in children are necessary due to the physiological and developmental differences between the various age groups of children vs. adults.” WATCH: Clinical trials test potentially groundbreaking treatments. Improved awareness campaigns about potential life-saving drug treatments going through clinical trials could put an added focus on treatments aimed at children. Pediatric cancer happens to be an area where participation in clinical trials is encouraged and often welcomed by families who have a sick child. “There are some areas that are extraordinarily good at having children enroll in clinical trials something like 90% of children with cancer,” Dr. Jackson explains. “It's really high because it's become part of the culture, the culture of the training physicians. People just know they're going to be part of a trial. There's a very good trial network that's been set up for this.” “Clinical research is a part of good clinical care,” she adds. “When you have good clinical care, you should be able to enroll in a clinical research trial.”

Questions for Your Doctor

If you or someone you love is considering a clinical trial for treatment, here are some questions you should ask your doctor to determine whether this route is right for you.

• What are the primary goals or objectives of the study?
• What treatments or interventions will be involved in the trial?
• How will the treatments be administered, and how often?
• What are the potential risks and side effects of the treatment?
• What are the specific inclusion and exclusion criteria for this study?
• How will randomization and blinding be implemented?
• How long will the trial last, and how often will I need to visit the clinic?
• How do the potential benefits outweigh the risks for participants?
• Will there be any costs associated with participating in this clinical trial?
• What happens if I decide to withdraw from the trial early?