Within the first few weeks after Lori and Lee Greenwood’s daughter Noa was born, her parents knew that something was wrong. A lot of different things, actually. The infant cried inconsolably. She wouldn’t follow her parents with her eyes, leading to concerns about her vision. She struggled to gain weight and missed milestone after milestone. She was slow to even respond to her parents’ presence.
After weeks and months of having doctors dismiss it as the normal fits and fuss of a newborn, the Greenwoods were able to get Noa into a pediatric neurologist in Boston for an MRI. The results devastated them: Noa had Canavan disease.
“We’re Googling Canavan disease, and it was like, ‘Oh my God! This connects all those dots,’” said Lori. “When we got that diagnosis, it was heartbreaking.”
What Noa is doing now is just what my grandchildren would do ... She’s learning and growing every day in different ways. Canavan research is part of my life, and to see gene therapy make a difference, it’s just so satisfying.”
Canavan disease is a neurological disorder in which the brain breaks down into spongy matter with small, fluid-filled gaps. It damages neurons and impairs the brain’s ability to send and receive messages. The disease is ultra rare, hereditary and degenerative. Infants diagnosed with Canavan sometimes live to be only about 10 years old.
But the Greenwoods were not powerless in the face of this terrible news. Noa’s neurologist told the family about a clinical trial of a gene therapy developed at UMass Chan Medical School that was starting the same day she was diagnosed. If eligible, the child could receive investigational gene therapy that could potentially change her life.
“We were the first family to be given this idea that there was something you could do,” said Lori. “There’s a trial, there’s a doctor, it’s all here. We were the first to be given that hope. And that such a powerful thing to have — a glimmer of hope.”
By StoryStudio on February 2, 2024
#AdvancingTogether
Hear from Noa’s family and see the difference gene therapy can make.
Sponsored by UMass Chan Medical School
— Guangping Gao, PhD
For the Greenwoods and families like them, hope resides at UMass Chan. The executive deputy chancellor, provost, and dean of the T.H. Chan School of Medicine is Terence R. Flotte, MD, an internationally known pioneer who has been making advances in the replacement of missing or defective genes to treat genetic disorders since the 1990s. He is also the principal investigator on several first-in-human gene therapy clinical trials at UMass Chan.
“For the first time, there is hope for infants with genetic diseases,” said Dr. Flotte. “But we are under extreme pressure because the clock is ticking. The child may have a condition that continues to progress as we’re working on the research. That makes it all the more crucial that we accelerate translating knowledge about what the gene is into some form of therapy.”
‘There is hope’ at UMass Chan
This urgency also drives Dr. Flotte to recruit the best scientists in the world to create a rich, collaborative environment at UMass Chan. And the leaps forward in gene therapy developed at UMass Chan over the past 20 years brought worldwide renown, building on research that was recognized with the 2006 Nobel Prize in Medicine or Physiology. One such expert that Dr. Flotte recruited, Guangping Gao, PhD, has studied a wide range of genetic disorders and rare diseases over the decades. In 1993, Dr. Gao discovered the gene and mutations responsible for Canavan disease, and he has since dedicated much of his career to developing a treatment.
“UMass Chan is definitely among the top gene therapy research centers in the U.S.,” said Dr. Gao, who is the Penelope Booth Rockwell Professor in Biomedical Research, professor of microbiology and physiological systems, and director of both the Horae Gene Therapy Center and the Li Weibo Institute for Rare Disease Research at UMass Chan. “And the U.S. leads the world in gene therapy development.”
But while the experts at UMass Chan are driving the science of gene therapy, both Dr. Flotte and Dr. Gao say they are motivated by the people impacted by their work.
“Through my years of research, the patients and families are really my drivers,” said Dr. Gao. “They push me, and I really always feel I’m very closely connected with the community of Canavan disease, with parents and kids. What we’re trying to do is make some difference in their lives.”
The Greenwoods say Drs. Flotte and Gao and the team at UMass Chan made a difference in their daughter’s life.
Noa participated in the CANaspire Phase I-II open-label clinical trial sponsored by Aspa Therapeutics, a BridgeBio company which investigates gene therapy BBP-812, which was developed by a team of researchers at UMass Chan led by Dr. Gao and Dominic J. Gessler, MD, PhD’20, assistant professor of neurological surgery. Noa received her first dose of BBP-812 in June 2022. She was the third child to participate in the trial.
More than a year later, a now 3-year-old Noa is flourishing. She plays around the Greenwoods’ home with her best friend and sister Max, 7, and Gracie, the family dog. She goes to school and daycare. She’s doing all the things a normal child would do, simple things that her parents had not allowed themselves to dream for her after her Canavan diagnosis.
“It’s dramatic changes, all the things that you’d say, and they’re all true,” said Lee. “Whatever the long-term outcomes are, we have no idea. We understand that that’s what this trial is all about. But this is not the child that was on the trajectory that she was on. Just to have this time to have this beautiful child — we can’t express how incredibly fortunate we feel.”
In April 2023, the Greenwoods took Noa to UMass Chan to meet Dr. Gao and his research team. While the parents tried to convey their gratitude, Noa played with the scientists and fed herself snacks in a booster seat at a conference-room table.
Inspired by patients
Dr. Gao holding a photograph of Noa Greenwood
Groundbreaking gene therapy offers ‘glimmer of hope’ for children with rare diseases
Terence R. Flotte, MD
Who can get gene therapy?
Q:
What is the future of gene therapy?
Q:
What sorts of disorders are treated by gene therapy?
Q:
How does gene therapy work?
Q:
What is gene therapy?
Q:
People with certain serious diseases may be eligible for FDA-approved gene therapy treatments or clinical trials.
A:
Research and clinical trials are investigating gene therapy treatments for a wide range of diseases, including cancer, heart disease and rare diseases such as Canavan and Tay-Sachs.
A:
FDA-approved gene therapies include treatments for sickle cell disease, Duchenne muscular dystrophy, leukemia, lymphoma and hemophilia.
A:
Gene therapy can inactivate or replace a disease-causing gene with a healthy copy or introduce a new or modified gene into the body.
A:
Gene therapy is a technique that modifies a person’s genes to treat or cure disease.
A:
What is Gene Therapy?
We were the first family to be given this idea that there was something you could do ... There’s a trial, there’s a doctor, it’s all here. We were the first to be given that hope. And that such a powerful thing to have —
a glimmer of hope."
— Lori Greenwood
“What Noa is doing now is just what my grandchildren would do,” said Dr. Gao. “She’s learning and growing every day in different ways. Canavan research is part of my life, and to see gene therapy make a difference, it’s just so satisfying.”
Today, in the lab at UMass Chan, amid all the equipment you’d expect to find in a cutting-edge gene therapy research lab, there is also a photograph of a smiling, pig-tailed Noa. It’s a reminder and motivator to Dr. Gao and the research team of what really powers their work.