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:
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.
For patients, the process for delivering genes to cells is relatively simple. See below, or view larger.
Through clinical trials and research, Dana-Farber/Boston Children's is at the forefront of the gene therapy evolution. Since 2012, we have treated 25 patients from 11 countries through our gene therapy protocols. Launched by Dana-Farber/Children’s President David Williams, MD, and now under the direction of Alessandra Biffi, MD, the joint center is one of the global leaders in pediatric gene therapy clinical research. We are currently conducting the gene therapy clinical trials below. Gene therapy trials for children with other diseases are also under development.
To learn more about the trials below, email our gene therapy program or call 1-617-632-5064.
Hemophilia B is an X-linked recessive genetic bleeding disorder caused by mutations in the factor IX (FIX) gene. FIX is produced in the liver and is critical for fibrin clot formation. Hemophilia B is characterized by frequent, spontaneous internal bleeding that can lead to chronic joint damage, intracranial hemorrhage, and even death. Current treatment for hemophilia B is based on replacement of the deficient FIX with IV injections of recombinant FIX protein prophylactically or as needed to treat bleeding episodes.
Our hemophilia gene therapy trials
We offer two gene therapy clinical trials for hemophilia B. Both evaluate whether the AAV vector
carrying a FIX gene can increase FIX levels in patients with moderate to severe hemophilia B, and both have similar eligibility requirements. If you think you may be a candidate for one of these trials, please contact us and we can discuss the two options with you.
Trial one: Safety
and Dose Finding Study of DTX101 (AAVrh10FIX) in Adults With Moderate/Severe to
Severe Hemophilia B
This study will evaluate the safety and efficacy of the
adeno-associated virus (AAV) to deliver the human factor IX (hFIX) gene, the
healthy gene necessary to make FIX, to the liver where FIX is normally
produced. This study will determine if AAVrh10 can produce clinically meaningful
FIX levels in patients with moderately/severe or severe hemophilia B.
Trial two: Open-Label Single Ascending Dose
of Adeno-associated Virus Serotype 8 Factor IX Gene Therapy in Adults with Hemophilia B
This study will test the
use of a gene delivery vector carrying a FIX gene. This first-in-humans study
is intended to evaluate the safety, kinetics, and if possible, the dose of
AskBio009 required to achieve stable plasma FIX activity between 10% and 40% of
Eligibility criteria for both
This gene therapy clinical trial will evaluate pediatric patients who have a
malignant or non-malignant blood cell disorder – including acute lymphoblastic
leukemia (ALL), acute myeloid leukemia (AML), non-Hodgkin lymphoma,
(MDS), or an immunologic deficiency syndrome –
who are having a blood stem cell transplant depleted of T cell receptor (TCR)
alfa and beta cells from a partially matched family donor. The study will
assess whether immune cells, called T cells, from the family donor – which will
be specially grown in the laboratory and given back to the patient along with
the stem cell transplant – can help the immune system recover faster after
Children who meet the following criteria may be eligible to take
part in this trial:
Learn more about this gene therapy clinical trial.
lymphoblastic leukemia, or relapsed ALL, refers to the return of acute lymphoblastic leukemia (ALL) in patients who have already undergone
treatment for the disease. Between 15 and 20 percent of children who are
treated for ALL and achieve an initial complete remission (CR) will have the
disease return (relapse) at some point.
therapy clinical trial for relapsed B-cell ALL is testing the safety of giving patients
immune-cancer-fighting cells that are created
from their own blood; these are called "modified T-cells." The goal is to find a safe dose of modified
T-cells for patients whose leukemia has returned.
Children who meet the
following criteria may be eligible to take part in this clinical trial:
Patients also must NOT
have the following:
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:
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:
Wiskott-Aldrich syndrome (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:
Patients under age 5 must also:
Chronic Granulomatous Disease (CDG) is a genetic disease
that affects males. CGD patients have problems with some of the white blood
cells, neutrophils. CGD patients generally have low
numbers of white blood cells, and some of these white blood cells do not work
right, leading to infections. CGD patients can have other problems with chronic
inflammation of the bowel and swollen gums.
Patients who meet the following criteria may be eligible to
take part in Dana-Farber/Boston Children’s gene therapy trial for children with
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.
Sung-Yun Pai, MD, explains the basic process of gene therapy.