She Was Born Without an Immune System. Gene Therapy Saved Her Life.

The article explains how gene therapy saved the life of a young girl, Cora Oakley, who was born with severe combined immunodeficiency (SCID). SCID is a rare genetic disorder that leaves babies without a functioning immune system. SCID is often referred to as "bubble boy disease," and it used to be considered a death sentence. Patients with this condition traditionally receive a bone-marrow transplant, but that carries serious risks, including graft vs host disease, long hospitalizations, infertility, and long-term organ damage.

The young child had ADA-SCID, which is one of the few variants of SCID that is targeted by a new form of a gene therapy trial from 2017. Instead of trying to replace her immune system, her doctors decided to collect her stem cells, insert a healthy ADA gene using a modified HIV virus, and return the corrected cells to her body. 

A study done recently that followed 62 babies found that every child was alive after eight years, and 95% had a fully restored immune system. The treatment for this condition is now much less dangerous for patients, and families are overall happier with this treatment. Although this treatment is costly for families.

This type of gene therapy saved Cora's life, as well as many other patients. She and many others can now live a healthy, normal life due to gene therapy. This article was refreshing to read to see good news occurring because of gene therapy.

References:

Bajaj, S. (2025, December 1). Gene therapy offer a cure for babies with the deadly ‘bubble boy disease’ - the new york times. https://www.nytimes.com/2025/11/27/well/bubble-boy-disease-gene-therapy.html

Wadbudhe, A. M., Meshram, R. J., & Tidke, S. C. (2023, October 26). Severe combined immunodeficiency (SCID) and its new treatment modalities. Cureus. https://pmc.ncbi.nlm.nih.gov/articles/PMC10676291/

Landmark Gene Therapy Study Shows Safety for Children

    A recent international study followed 62 children treated between 2012 and 2019 for the rare immune-deficiency condition ADA‑SCID, using ex-vivo stem cell lentiviral gene therapy. After a mean follow-up of 7.5 years, the treated children had a 100% survival rate, and over 95% were considered cured. This research was conducted by University College London.

    This is a remarkable outcome because many gene therapies for rare childhood conditions face challenges with durability, immune reactions, or long-term safety. From a genetics perspective, it highlights how delivering a corrected gene to hematopoietic stem cells can provide a durable therapeutic approach.

    The study also raises several questions and implications. How will these long-term safety data influence regulatory approval and access for other rare-disease gene therapies? What kind of genetic monitoring will be necessary as these children grow into adulthood? In our genetics course context, this research demonstrates how modern gene therapies can provide lasting, life-changing results for pediatric patients, bridging the gap between experimental science and clinical care.

    In summary, while gene therapy often feels like a futuristic and unrealistic promise, this study demonstrates concrete, long-lasting benefits for children. These results make the topic both timely and meaningful for genetics, medicine, and public communication.

Sources

University College London. (2025, October). Landmark gene therapy study shows safety in children. UCL News. https://www.ucl.ac.uk/news/2025/oct/landmark-gene-therapy-study-shows-safety-children

Poletti, M., & Mavilio, F. (2021). Designing lentiviral vectors for gene therapy of genetic diseases. PMC. https://pmc.ncbi.nlm.nih.gov/articles/PMC8402868/

Rescuing Children Born Without Immune Systems With HIV Gene Therapy Methods

    Experimental gene therapy leads to 48 out of 50 young children born without immune systems being able to acquire an essentially normal immune system.  Children born without an immune system can experience life-threatening illnesses from simple day-to-day activities. 50 of the young children had a form of immune deficiency called ADA-SCID. This is where a faulty gene causes a buildup in the bloodstream with a common and natural biochemical called adenosine. By utilizing experimental gene therapy inside a newborn's body the genetic defect that causes immune deficiency is able to be fixed. The procedure uses a modified, harmless version of AIDS-causing human immunodeficiency virus (HIV) in order to cure the patient.  During the procedure, doctors extract some of a child's bone marrow and expose it to a modified version of HIV containing a cloned, normal copy of their broken gene. "We collect blood-forming stem cells from the bone marrow of these patients, bring them to the laboratory, use this lentiviral vector to insert this normal gene into their stem cells, and then they're given back to the patients by intravenous infusion," said lead researcher Dr. Donald Kohn. Then children undergo chemotherapy to destroy their faulty bone marrow, and the new genetically modified cells are put back in as a replacement. Children who have had this procedure have not needed any other medical assistance pertaining to their previous immune deficiency after the gene therapy.

Helpful Links:

Gene Therapy Uses HIV to Rescue Kids Born Without Immune System

Adenosine deaminase deficiency

By Katherine Morone

Cure for "Bubble Baby" Disease

         Perhaps through the popular movie the Bubble Boy or the episode of Seinfeld that featured this disease you have heard about this disease. Although, those characters were fictional, the disease is very real. It is called the adenosine deaminase (ADA)-deficient sever combined immunodeficiency (SCID) or often called the "bubble baby" disease, this disease is very serious and if left untreated kills most newborns in the first year of life. There were very few options for children born with SCID ADA-deficient until now.
        Children born with (SCID) have inherited immunodeficiency, are diagnosed in the first six months, and are extremely vulnerable to infectious diseases. Children with SCID are also kept in controlled environments which is where the infamous "bubble" reputation came from.  A child with ADA-deficient SCID lack the proper enzyme ADA. This enzyme is critical in growth of healthy white blood cells, without these white blood cells the common cold could be fatal. Before this discovery was made there was only two options for children who were ADA-deficient SCID. The first was they had to get bi-weekly enzyme injections to try and bring their immune system to an optimum level. Which was an extremely expensive and life long process that might not even bring the immune system to the optimum level. The other option was to get a bone marrow transplant from a matched sibling, but to find the match is extremely difficult and the actual transplant is very painful. The marrow cells could also reject the child's normal body cells and turn against the child.
       UCLA researchers developed a new treatment using gene therapy to help cure these children. Dr. Donald Kohn's breakthrough was developed over three decades. It "safely restores immune systems in children with ADA-deficient SCID using the patient's own cells with no side effects." To date all 18 children with SCID that were in his clinical trials have been cured by receiving the stem cell gene therapy. Kohn and his team took the patient's blood stem cells from the bone marrow and genetically modified them to correct the defect. They then used a viral delivery system to put the corrected gene that now produces the missing enzyme back into the bone marrow of the patients. The team used "the powerful self-renewal potential of stem cells to repopulate the blood stream and the child develops their own new, fully-functioning immune system." The next step is to hopefully get FDA approval and get the treatment to all ADA-deficient SCID children.

       I find this whole discovery to be extremely fascinating. I just hope the FDA approves this gene therapy method and all of the children that need this disease get it before any other child dies.

Original article
http://www.medicalnewstoday.com/releases/285724.php 
Related Article
http://www.adagen.com/bone_marrow_transplant.html

A New Treatment Option for "Bubble Boy" Disease

A recent article published in Science Codex shared the findings of UCLA stem cell researchers who may have found a way to treat “Bubble Boy” disease.  “Bubble Boy” disease or ADA-deficient severe combined immunodeficiency (SCID) is an inherited genetic condition which became famous with the case of David Vetter in the 1970s.  ADA refers to the gene which produces the enzyme responsible for making white blood cells.  Lacking an immune system at birth, Vetter was placed inside a plastic bubble called the isolator.  Doctors hoped that a bone marrow transplant from his sister would provide Vetter with a working immune system, but he died after a failed operation at age 12.  Fortunately, children with ADA-SCID have a much higher rate of survival today, and UCLA researchers have found a way to restore immune systems using stem cells.

[caption id="" align="aligncenter" width="320" caption="David Vetter inside the isolator."][/caption]

The study at UCLA lasted for 11 years, and researchers applied two types of therapies on children with ADA-SCID.  The first type of therapy used was gene therapy.  Gene therapy works by replacing a nonfunctional gene with a functional one or by repairing a mutation that occurs.  Typically, gene therapy is administered to the patient via a virus.  The researchers tested the effectiveness of delivering a much needed enzyme to children with ADA-SCID using two types of viruses.  The delivery method was effective, and the enzyme helped the child produce white blood cells which are necessary for building a strong immune system.  The second type of therapy used was chemotherapy which killed bone marrow cells that were not producing white blood cells.  This approach to treating ADA-SCID appears to be promising.  One of the original participants was a 10 month old baby at the start of the study in 2008.  Today, the child is 5 years old, and his immune system is functioning properly.

The effects of this research show the importance of gene therapy in treating inherited diseases.  Thirty years ago, ADA-SCID was fatal, but through the efforts of researchers, people with this condition are able to live long and heathy lives.  Hopefully the techniques and findings from this study will aid other researchers in finding cures for other inherited diseases.