• Gene Therapy for Children

     

    What is gene therapy?

    Our genes, which hold the code for all of our body's functions, are made of DNA. Damage to DNA, such as a mutation, is an underlying cause of the genetic defects that lead to cancers, blood disorders, and other conditions. Gene therapy delivers DNA into a patient’s cells to replace faulty or missing genes—or adds new genes—in an attempt to cure cancer or make changes so the body is better able to fight off disease.

    Scientists are investigating a number of different ways to do this:

    • Replacing missing or mutated genes, which is the most common approach
    • Changing the regulation of genes; mutated genes that cause cancer could be turned off so they don’t cause disease or turned on to fight disease.
    • Making cancer cells more recognizable to the body’s immune system to improve the body’s disease-fighting response, also known as immunotherapy.

    How does gene therapy deliver new genes into cells?

    With gene therapy, the DNA for a gene or genes is carried into a patient’s cells by a delivery vehicle called a vector, typically a specially engineered virus. The vector then inserts the gene(s) into the cells' DNA.

    What are the steps of gene therapy?

    For the patient, the process for delivering genes to cells is relatively simple.

    • A doctor will draw blood or a liquid sample of bone marrow (called a bone marrow aspiration).
    • In the laboratory, cells from the blood or bone marrow are exposed to a virus or other type of vector containing the desired genes.
    • Once the cells take up the vector and merge the genes into their DNA, the cells are injected back into the patient’s body through a vein.

    Gene Therapy at Dana-Farber/Boston Children's

    Through clinical trials and research, Dana-Farber/Boston Children's is at the forefront of the gene therapy evolution. Under the direction of David Williams, MD, Dana-Farber/Boston Children's is one of the global leaders in pediatric gene therapy clinical research. We are currently conducting gene therapy clinical trials for adrenoleukodystrophy, X-linked severe combined immunodeficiency, and Wiskott-Aldrich syndrome (see details below). 

    Gene therapy trials for children with other diseases, such as sickle cell disease, chronic granulomatous disease, relapsed acute lymphoblastic leukemia, and various malignant and non-malignant blood disorders are also under development. If successful, these gene therapy trials could produce potential cures for these diseases.

    To learn more about the trials below, email Colleen Dansereau or call 1-617-919-7008. 

    Adrenoleukodystrophy (ALD) Clinical Trial

    Adrenoleukodystrophy (ALD) is a rare and progressive genetic disorder more often diagnosed in boys that affects the nervous system and the adrenal glands (small glands found on top of the kidneys). The cells of a child with ALD are missing the gene for an enzyme called ALDP, which helps break down fatty acids.

    Children who meet the following criteria may be eligible to take part in Dana-Farber/Boston Children's gene therapy trial for children with ALD:

    • Be male, aged 17 years or younger at time of consent
    • Have active cerebral ALD as defined by elevated VLCFA levels
    • Have active central nervous system (CNS) disease established by central radiographic review of brain MRI demonstrating:
      • Loes score between 0.5 and 9 (inclusive) on the 34-point scale
      • Gadolinium enhancement of demyelinating lesions on MRI
    • Lack availability of a 10/10 human leukocyte antigen (HLA)-matched sibling donor

    X-linked Severe Combined Immunodeficiency (X-SCID) Clinical Trial

    X-linked severe combined immunodeficiency (X-SCID) is a rare genetic immunodeficiency that prevents a child's bone marrow from producing infection-fighting white blood cells.

    Children who meet the following criteria may be eligible to take part in Dana-Farber/Boston Children's gene therapy trial for children with X-SCID:

    • Have a definitive diagnosis of SCIDX1 and either
    • Lack an HLA-matched family donor and, if >3.5 months old, lack an HLA-identical (A,B,C,DR,DQ) unrelated donor
      OR 
    • Be of any age with an active, therapy-resistant infection or other medical conditions that significantly increase the risk of allogeneic transplant

    Wiskott-Aldrich Syndrome (WAS) Clinical Trial

    Wiskott-Aldrichsyndrome (WAS) is a rare genetic immunodeficiency that keeps a child's immune system from functioning properly. It also makes it difficult for a child's bone marrow to produce platelets, making a child prone to bleeding.

    Patients who meet the following criteria may be eligible to take part in Dana-Farber/Boston Children's gene therapy trial for children with WAS:

    • Be aged 3 months to 35 years
    • Have confirmed molecular diagnosis by DNA sequencing
    • Have severe disease indicated by absence of WAS protein by flow cytometry AND mutation predictive of severe disease (i.e. nonsense, frameshift or large deletion mutation)
    • Lack availability of HLA-genotypically identical sibling bone marrow donor
    • Have adequate organ function and performance status

    Patients under age 5 must also:

    • Lack a 9/10 or 10/10 molecularly HLA-matched unrelated donor after 3 months of searching
    • Lack a 6/6 molecularly HLA-matched cord blood donor of adequate cell number after 3 months of searching
  • Need Help? Contact Us.

    Our specialized new patient coordinators can answer your questions about treatment options and becoming a patient. In urgent cases, we typically can see new patients within 24 hours.
  • Contact Us: Gene Therapy

    To learn more or refer a patient for a gene therapy clinical trial, contact Colleen Dansereau.
    Phone: 617-919-7008
    Email: colleen.dansereau@childrens.harvard.educallout bg
  • Advances in Gene Therapy: "Bubble Boy Syndrome"

    Dr. David Williams 

    An international study led by researchers at Dana-Farber/Boston Children's shows that a new type of gene therapy may help boys with a immune disorder commonly known as “bubble boy” disease.

  • Concierge Services

    Our team provides extensive concierge services to help gene therapy patients and families with travel arrangements, housing, and more. Call us at (617) 919-7008 to learn more.