These Scientists May Have Found a Cure for ‘Bubble Boy’ Disease – Smithsonian.com
By daniellenierenberg
On the morning of April 25, 2018, in Fort Wayne, Indiana, Omarion Jordan came into the world ten-fingers-and-toes perfect. His mother, Kristin Simpson, brought her dark-haired newborn home to a mostly empty apartment in Kendallville, about 30 miles to the north. Shed just moved in and hadnt had time to decorate. Her son, however, had everything he needed: a nursery full of toys, a crib, a bassinet and a blue octopus blanket.
Still, within his first couple of months, he was plagued by three different infections that required intravenous treatments. Doctors thought he had eczema and cradle cap. They said he was allergic to his mothers milk and told her to stop breastfeeding. Then, not long after he received a round of standard infant vaccinations, his scalp was bleeding and covered with green goop, recalled the first-time mother, who was then in her late teens. She took him to the hospital emergency room, where, again, caregivers seemed puzzled by the babys bizarre symptoms, which didnt make any sense until physicians, finally, ordered the right blood test.
What they learned was that Omarion was born with a rare genetic disorder called X-linked severe combined immunodeficiency (SCID), better known as the bubble boy disease. Caused by a mutated gene on the X chromosome, and almost always limited to males, a baby born with X-linked SCID, or SCID-X1, lacks a working immune system (hence the unusual reaction to vaccination). The bubble boy name is a reference to David Vetter, a Texas child born with SCID-X1 in 1971, who lived in a plastic bubble and ventured out in a NASA-designed suit. He died at 12, but his highly publicized life inspired a 1976 TV movie starring John Travolta.
Today, technological advances in hospitals provide a kind of bubble, protecting SCID-X1 patients with controlled circulation of filtered air. Such safeguards are necessary because a patient exposed to even the most innocuous germs can acquire infections that turn deadly. As soon as Omarion tested positive for the disorder, an ambulance carried him to Cincinnati Childrens Hospital in nearby Ohio and placed him in isolation, where he remained for the next few months. I had no idea what would happen to him, his mother recalled.
Approximately one in 40,000 to 100,000 infants is born with SCID, according to the Centers for Disease Control and Prevention. Only about 20 to 50 new cases of the SCID-X1 mutationwhich accounts for about half of all SCID casesappear in the United States each year. For years, the best treatments for SCID-X1 have been bone marrow or blood stem cell transplantations from a matched sibling donor. But fewer than 20 percent of patients have had this option. And Omarion, an only child, was not among them.
As it happened, medical scientists at St. Jude Childrens Research Hospital in Memphis, Tennessee, were then developing a bold new procedure. The strategy: introduce a normal copy of the faulty gene, designated IL2RG, into a patients own stem cells, which then go on to produce the immune system components needed to fight infection. Simpson enrolled Omarion in the clinical study and Cincinnati Childrens Hospital arranged a private jet to transport her and her son to the research hospital, where they stayed for five months.
St. Jude wasnt the first to try gene therapy for SCID-X1. Nearly 20 years ago, researchers in France reported successfully reconditioning immune systems in SCID-X1 patients using a particular virus to deliver the correct gene to cells. But when a quarter of the patients in that study developed leukemia, because the modified virus also disrupted the functioning of normal genes, the study was halted and scientists interested in gene therapy for the disorder hit the brakes.
At St. Jude, experts led by the late Brian Sorrentino, a hematologist and gene therapy researcher, set out to engineer a virus delivery vehicle that wouldnt have side effects. They started with a modified HIV vector emptied of the virus and its original contents, and filled it with a normal copy of the IL2RG gene. They engineered this vector to include insulators to prevent the vector from disturbing other genes once it integrated into the human genome. The goal was to insert the gene into stem cells that had come from the patients own bone marrow, and those cells would then go on to produce working immune system cells. It was crucial for the viral vector to not deliver the gene to other kinds of cellsand thats what the researchers observed. After gene therapy, for example, brain cells do not have a correct copy of the gene, explained Stephen Gottschalk, who chairs St. Judes Department of Bone Marrow Transplantation and Cellular Therapy.
In the experimental treatment, infants received their re-engineered stem cells just 12 days after some of their bone marrow was obtained. They went through a two-day, low-dose course of chemotherapy, which made room for the engineered cells to grow. Within four months, some of the babies were able to fight infections on their own. All eight of the initial research subjects left the hospital with a healthy immune system. The remarkably positive results made news headlines after being published this past April in the New England Journal of Medicine. Experimental gene therapy frees bubble boy babies from life of isolation, the journal Nature trumpeted.
So far, the children who participated in that study are thriving, and so are several other babies who received the treatmentincluding Omarion. As a physician and a mom, I couldnt ask for anything better, said Ewelina Mamcarz, lead author of the journal article and first-time mother to a toddler nearly the same age as Omarion. The children in the study are now playing outside and attending day care, reaching milestones just like my daughter, Mamcarz says. Theyre no different. Mamcarz, who is from Poland, came to the United States to train as a pediatric hematologist-oncologist and joined St. Jude six years ago.
Other medical centers are pursuing the treatment. The University of California, San Francisco Benioff Childrens Hospital is currently treating infant patients, and Seattle Childrens Hospital is poised to do the same. Moreover, the National Institutes of Health has seen success in applying the gene therapy to older patients, ages 3 to 37. Those participants had previously received bone marrow transplants from partially matched donors, but theyd been living with complications.
In the highly technical world of medicine today, it takes teamwork to achieve a breakthrough, and as many as 150 peoplephysicians, nurses, regulators, researchers, transplant coordinators and othersplayed a role in this one.
Sorrentino died in November 2018, but hed lived long enough to celebrate the trial results. In the early 90s, we thought gene therapy would revolutionize medicine, but it was kind of too early, said Gottschalk, who began his career in Germany. Now, nearly 30 years later, we understand the technology better, and its really starting to have a great impact. We can now develop very precise medicine, with very limited side effects. Gottschalk, who arrived at St. Jude a month before Sorrentinos diagnosis, now oversees the hospitals SCID-X1 research. Its very, very gratifying to be involved, he said.
For now the SCID-X1 gene therapy remains experimental. But with additional trials and continued monitoring of patients, St. Jude hopes that the therapy will earn Food and Drug Administration approval as a treatment within five years.
Simpson, for her part, is already convinced that the therapy can work wonders: Her son doesnt live in a bubble or, for that matter, in a hospital. He can play barefoot in the dirt with other kids, whatever he wants, because his immune system is normal like any other kid, she said. I wish there were better words than thank you.
Original post:
These Scientists May Have Found a Cure for 'Bubble Boy' Disease - Smithsonian.com
- Rejuvenating the immune system by depleting certain stem cells - National Institutes of Health (NIH) (.gov) - April 19th, 2024
- New gene therapy eliminates need for bone marrow transplant. Here's how it works. - CBS News - April 19th, 2024
- New gene therapy eliminates need for bone marrow transplant. Here's how it works. - MSN - April 19th, 2024
- Long Island boy with rare blood disorder undergoes gene therapy - MSN - April 19th, 2024
- Philadelphia Wings player, Connecticut man will be forever bonded by bone marrow donation: "He's my hero" - CBS Philly - April 10th, 2024
- VRD versus VCD as induction therapy before autologous stem cell transplantation in multiple myeloma: a nationwide ... - Nature.com - April 10th, 2024
- Register as a bone marrow donor today and save lives - The Citizen - April 10th, 2024
- Resilient anatomy and local plasticity of naive and stress haematopoiesis - Nature.com - March 26th, 2024
- A Deeper Depth of Response After Salvage Therapy Improves Outcomes of Autologous Stem Cell Transplantation in ... - Cureus - March 26th, 2024
- Iron restriction keeps blood stem cells young, researchers find - Phys.org - March 18th, 2024
- Blood drive, bone marrow testing to be held in local woman's memory - The Winchester Star - March 18th, 2024
- Signal of Benefit for Stem Cell Therapy in Progressive MS - Medscape - March 10th, 2024
- Woman, 22, With Leukemia Recalls Symptoms And New Treatment She Received: EXCLUSIVE - TODAY - March 10th, 2024
- This Swedish startup wants to reduce the cost, and controversy, around stem cell production - TechCrunch - March 10th, 2024
- Outcomes and prognosis of haploidentical haematopoietic stem cell transplantation in children with FLT3-ITD mutated ... - Nature.com - March 10th, 2024
- Harmonizing definitions for hematopoietic recovery, graft rejection, graft failure, poor graft function, and donor ... - Nature.com - March 10th, 2024
- Hematopoietic cell transplantation and cell therapy activity landscape survey in the Kingdom of Saudi Arabia; a report ... - Nature.com - March 10th, 2024
- How an MS friendship led to HSCT and a love of running - Multiple Sclerosis News Today - March 10th, 2024
- Iron Limitation Preserves Youthfulness of Blood Stem Cells - Mirage News - March 10th, 2024
- Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis: A retrospective analysis of the ... - Nature.com - March 10th, 2024
- AJMC in the Press, February 23, 2024 - AJMC.com Managed Markets Network - February 24th, 2024
- Orca Bio Presents Promising Data on Orca-T in Two Oral Presentations at the 2024 Tandem Meetings of ASTCT and ... - Yahoo Finance - February 24th, 2024
- New approaches to live-track the production of different types of blood cells in mice - Medical Xpress - February 24th, 2024
- If Other Treatments Aren't Working -- Stem Cell Transplant May Be A Good Option In CLL - SurvivorNet - February 24th, 2024
- Expanding the Horizons of Cell and Gene Therapy - RegMedNet - February 24th, 2024
- The strangers who saved each others lives - BBC - February 24th, 2024
- City of Hope Research Featuring the Successful Treatment of the Oldest Patient to Achieve Remission for Leukemia ... - StreetInsider.com - February 15th, 2024
- 3D printing and material processing combined to create artificial bone - Optics.org - February 15th, 2024
- Man, 63, is in remission from HIV five years after receiving groundbreaking stem cell transplant... - The Sun - February 15th, 2024
- Team demonstrates fabrication method to construct 3D structures that mimic bone microstructure - Phys.org - February 15th, 2024
- Hematopoietic Stem Cells and Their Role in Development and Disease Therapy - The Scientist - February 15th, 2024
- Blood cell family trees trace how production changes with aging - MIT News - February 7th, 2024
- New study on promising stem cell-based therapy for Crohn's disease - Medical Xpress - January 30th, 2024
- Second haploidentical bone marrow transplantation with antithymocyte antibody-containing conditioning regimen for ... - Nature.com - January 30th, 2024
- Stem cell study shows how gene activity modulates the amount of immune cell production in mice - Medical Xpress - January 30th, 2024
- Global Stem Cell Therapy Industry Outlook to 2028, Driven by Therapeutic Innovations and Clinical Advancements ... - Yahoo Finance - January 30th, 2024
- 1st-of-its-kind therapy blocks immune attack after stem-cell transplant - Livescience.com - January 22nd, 2024
- Individualized dose of anti-thymocyte globulin based on weight and pre-transplantation lymphocyte counts in pediatric ... - Nature.com - January 22nd, 2024
- Implications of stress-induced gene expression for hematopoietic stem cell aging studies - Nature.com - January 22nd, 2024
- LVHN announces opening of new stem cell transplant center. Here's what that means for the Lehigh Valley - The Morning Call - January 22nd, 2024
- Fast Five Quiz: Chronic GVHD Risk Factors and Prevention - Medscape Reference - January 22nd, 2024
- Could Treatments for HIV and Sickle Cell Open the Gene Therapy Floodgates? - BioSpace - January 22nd, 2024
- Effects of fine particulate matter on bone marrow-conserved hematopoietic and mesenchymal stem cells: a systematic ... - Nature.com - January 14th, 2024
- Donating Bone Marrow and Stem Cells: The Process and What To Expect - On Cancer - Memorial Sloan Kettering - January 14th, 2024
- No, Rep. Steve Scalise Didn't Vote Against Stem Cell Research From Which He Is Now Benefiting - Yahoo News - January 14th, 2024
- Hematopoietic Stem Cell Transplantation Market to Grow Rapidly During the Study Period (2019-2032), Evaluates ... - PR Newswire - January 14th, 2024
- Life-saving donation from Philly athlete saves life: 'Feeling so strong, I owe that all to him' - AOL - January 14th, 2024
- The Key to Creating Blood Stem Cells May Lie in Your Own Blood - ScienceAlert - January 14th, 2024
- Dr Phillips on the Rationale for the GLOBRYTE Trial in Relapsed/Refractory MCL - OncLive - January 14th, 2024
- COVID-19 and HSCT Recipients: Risk Factors and Prevention Measures - Medriva - January 14th, 2024
- Bone Marrow Transplant: Heres What You Need To Know About This Therapy - Times Now - January 5th, 2024
- New insights about the development of hematopoietic stem cells - Drug Target Review - December 28th, 2023
- Bone Marrow Transplantation | Johns Hopkins Medicine - December 20th, 2023
- Stem Cell or Bone Marrow Transplant | American Cancer Society - December 20th, 2023
- Embryonic-stem-cell-derived mesenchymal stem cells relieve experimental contact urticaria by regulating the functions ... - Nature.com - December 20th, 2023
- Researchers discover crucial step in creating blood stem cells - Phys.org - December 20th, 2023
- A niche topic: understanding the development of hematopoietic stem cells - Fred Hutchinson Cancer Center - December 20th, 2023
- Vertex developed a CRISPR cure. Its already on the hunt for something better. - MIT Technology Review - December 20th, 2023
- FDA approves cure for sickle cell disease, the first treatment to use gene-editing tool CRISPR - NBC News - December 12th, 2023
- First therapy using CRISPR technology will treat sickle cell disease - Morning Brew - December 12th, 2023
- 7 medical breakthroughs that gave us hope in 2023 - National Geographic - December 12th, 2023
- Understanding Chronic Myeloid Leukemia: Causes, Symptoms, and Treatment - Everyday Health - December 12th, 2023
- Mansour bin Zayed witnesses inauguration of ADSCC Bone Marrow Transplant & Cellular Therapy Congress 2023 - ZAWYA - November 26th, 2023
- ADSCC Bone Marrow Transplant and Cellular Therapy Congress 2023 to take place in Abu Dhabi - ZAWYA - November 18th, 2023
- Orchard Therapeutics Reports First Quarter 2023 Financial Results and Announces Initiation of Rolling Submission for Biologics License Application of... - May 16th, 2023
- Family of 7-month-old in need of bone marrow transplant hosting donor registration event - CBS Pittsburgh - May 8th, 2023
- Anika Continues to Expand Addressable Market for Tactoset Injectable Bone Substitute with Additional 510(k) Clearance from FDA - Marketscreener.com - April 5th, 2023
- MorphoSys Completes Enrollment of Phase 3 MANIFEST-2 Study of Pelabresib in Myelofibrosis with Topline Results Expected by End of 2023 -... - April 5th, 2023
- VOR BIOPHARMA INC. Management's Discussion and Analysis of Financial Condition and Results of Operations (form 10-K) - Marketscreener.com - March 25th, 2023
- BioRestorative Therapies to Seek FDA Approval to Expand the Clinical Application of BRTX-100 - Marketscreener.com - March 17th, 2023
- BioSenic delivers a new post-hoc analysis of its Phase III JTA-004 trial on knee osteo-arthritis with positive action on the most severely affected... - March 17th, 2023
- JASPER THERAPEUTICS, INC. MANAGEMENT'S DISCUSSION AND ANALYSIS OF FINANCIAL CONDITION AND RESULTS OF OPERATIONS (form 10-K) - Marketscreener.com - March 9th, 2023
- For a range of unmet medical needs, India offers a fantastic opportunity to push cell and gene therapies: B .. - ETHealthWorld - March 9th, 2023
- NGM BIOPHARMACEUTICALS INC Management's Discussion and Analysis of Financial Condition and Results of Operations. (form 10-K) - Marketscreener.com - March 1st, 2023
- Bone health: Tips to keep your bones healthy - Mayo Clinic - January 27th, 2023
- Bone marrow drive held for military wife with cancer - January 27th, 2023
- Bone cancer - Symptoms and causes - Mayo Clinic - January 27th, 2023
- Bone | Definition, Anatomy, & Composition | Britannica - January 19th, 2023
- Bone Definition & Meaning - Merriam-Webster - January 19th, 2023
- What Is Bone? | NIH Osteoporosis and Related Bone Diseases National ... - January 19th, 2023