Stories about: gene therapy

Landmark moment for science as the FDA approves a gene therapy for the first time

Posted on August 30, 2017August 31, 2017 by Kat J. McAlpine

More On: acute lymphoblastic leukemia, Alessandra Biffi, ALL, cancer, Dana-Farber Boston Children's, David Williams, gene therapy, Lewis Silverman

Leukemia blast cells, which could now be destroyed using a first-of-its-kind, FDA-approved gene therapy called CAR-T cell therapy — Leukemia blast cells.

Today, the Food and Drug Administration approved a gene therapy known as CAR T-cell therapy that genetically modifies a patient’s own cells to help them combat pediatric acute lymphoblastic leukemia (ALL), the most common childhood cancer. It is the first gene therapy to be approved by the FDA.

“This represents the progression of the field of gene therapy, which has been developing over the last 30 years,” says gene therapy pioneer David A. Williams, MD, who is chief scientific officer of Boston Children’s Hospital and president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “It’s a realization of what we envisioned to be molecular medicine when this research started. The vision — that we could alter cells in a way to cure disease — is now coming true.” …

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Gene therapy: The promise, the reality, the future

Posted on March 2, 2017March 7, 2017 by Nancy Fliesler

Posted in Market trends, Science, Therapeutics

More On: cell therapy, David Williams, gene therapy

Gene therapy stalled in the early 2000s as adverse effects came to light in European trials (leukemias triggered by the gene delivery vector) and following the 1999 death of U.S. patient Jesse Gelsinger. But after 30 years of development, and with the advent of safer vectors, gene therapy is becoming a clinical reality. It falls into two main categories:

In vivo: Direct injection of the gene therapy vector, carrying the desired gene, into the bloodstream or target organ.
Ex vivo: Removal of a patient’s cells, treating the cells with gene therapy, and reinfusing them back into the patient, as in hematopoietic stem cell transplant and CAR T-cell therapy.

A recent panel at Boston Children’s Hospital, hosted by the hospital’s Technology and Innovation Development Office (TIDO), explored where gene therapy is and where it’s going. Here were the key takeaways: …

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With no time to lose, parents drive CMT4J gene therapy forward

Posted on February 23, 2017March 6, 2017 by Nancy Fliesler

Posted in People, Science, Therapeutics

More On: Basil Darras, Charcot-Marie-Tooth, citizen science, CMT4J, gene therapy, rare disease

In honor of Rare Disease Day (Feb. 28), we salute “citizen scientists” Jocelyn and John Duff.

When Talia Duff was born, her parents realized life would be different, but still joyful. They were quickly adopted by the Down syndrome parent community and fell in love with Talia and her bright smile.

But when Talia was about four, it was clear she had a true problem. She started losing strength in her arms and legs. When she got sick, which was often, the weakness seemed to accelerate.

Talia was initially diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), an autoimmune disease in which the body attacks its own nerve fibers. Treated with IV immunoglobulin infusions to curb the inflammation, she seemed to grow stronger — but only for a time. Adding prednisone, a steroid, seemed to help. But it also caused bone loss, and Talia began having spine fractures.

“We tried a lot of different things, but she never got 100 percent better,” says Regina Laine, NP, who has been following Talia in Boston Children’s Hospital’s Neuromuscular Center the past several years, together with Basil Darras, MD. “That’s when we decided to readdress the possibility that it was genetic.” …

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A gene therapy advance for muscle-wasting myotubular myopathy

Posted on February 22, 2017March 29, 2017 by Nancy Fliesler

Posted in Science, Therapeutics

More On: Alan Beggs, congenital myopathies, gene therapy, myotubular myopathy

X-linked myotubular myopathy XLMTM gene therapy — Nibs, a carrier of MTM whose descendants provided the basis for the gene therapy study. (Read more of her story.)

For more than two decades, Alan Beggs, PhD, at Boston Children’s Hospital has explored the genetic causes of congenital myopathies, disorders that weaken children’s muscles, and investigated how the mutations lead to muscle weakness. For one life-threatening disorder, X-linked myotubular myopathy (XLMTM), the work is approaching potential payoff, in the form of a clinical gene therapy trial.

Boys with XLMTM are born so weak that they are dependent on ventilators and feeding tubes to survive. Almost half die before 18 months of age. …

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Gene therapy restores whisper-fine hearing, balance in Usher syndrome mice

Posted on February 7, 2017February 7, 2017 by Nancy Fliesler

Posted in Science, Therapeutics

More On: deafness, gene therapy, Gwenaelle Geleoc, Jeffrey Holt, otolaryngology

gene therapy for deafness — Sensory hair cells contain tiny cilia that get wiggled by incoming sound waves, sparking a signal to the brain that ultimately translates to hearing. Gene therapy restored this tidy “V” formation. (Credit: Gwenaelle Géléoc and Artur Indzkykulian)

The ear is a part of the body that’s readily accessible to gene therapy: You can inject a gene delivery vector (typically a harmless virus) and it has a good chance of staying put. But will it ferry the corrected gene into the cells of the hearing and/or vestibular organs where it’s most needed?

Back in 2015, a Boston Children’s Hospital/Harvard Medical School team reported using gene therapy to restore rudimentary hearing in mice with genetic deafness. Previously unresponsive mice began jumping when exposed to abrupt loud sounds. But the vector used could get the corrected genes only into the cochlea’s inner hair cells. To really restore significant hearing, the outer hair cells need to be treated too. …

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2017 predictions for biomedicine

Posted on December 29, 2016January 3, 2017 by David Williams

Posted in Market trends, Pediatrics, Science, Therapeutics

More On: cell therapy, David Williams, gene therapy, genomic medicine, immunotherapy, industry-academia partnerships, precision medicine, predictions, rare disease, research funding

2017 predictions for biomedicine

David Williams, MD, is Boston Children’s Hospital’s newly appointed Chief Scientific Officer. He is also president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and director of Clinical and Translational Research at Boston Children’s. Vector connected with him to get his forecast on where biomedical research and therapeutic development will go in the year ahead. …

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BCL11A-based gene therapy for sickle cell disease passes key preclinical test

Posted on September 6, 2016February 15, 2017 by Nancy Fliesler

Posted in Pediatrics, Science, Therapeutics

More On: Dana-Farber Boston Children's, David Williams, gene therapy, sickle cell disease, Stuart Orkin, Vijay Sankaran

sickle cell gene therapy coming — (unsplash/Pixabay)

Research going back to the 1980s has shown that sickle cell disease is milder in people whose red blood cells carry a fetal form of hemoglobin. The healthy fetal hemoglobin compensates for the mutated “adult” hemoglobin that makes red blood cells stiffen and assume the classic “sickle” shape.

Normally, fetal hemoglobin production tails off after birth, shut down by a gene called BCL11A. In 2008, researchers Stuart Orkin, MD, and Vijay Sankaran, MD, PhD, at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center showed that suppressing BCL11A could restart fetal hemoglobin production; in 2011, using this approach, they corrected sickle cell disease in mice.

Now, the decades-old discovery is finally nearly ready for human testing — in the form of gene therapy. Today in the Journal of Clinical Investigation, Dana-Farber/Boston Children’s researchers report that a precision-engineered gene therapy vector suppressing BCL11A production overcame a key technical hurdle. …

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Mom-entrepreneur forms gene therapy company to tackle Sanfilippo syndrome

Posted on July 5, 2016July 1, 2016 by Nancy Fliesler

Posted in People, Therapeutics

More On: citizen science, gene therapy, rare disease, Sanfilippo syndrome

Sanfilippo syndrome A is a neurodegenerative condition caused by a genetic error in metabolism: because of a missing enzyme, long-chained sugar molecules cannot be broken down. Toxic substrates accumulate in cells, causing a rapid cognitive decline and, later, motor decline. Most affected children die in their teens or earlier.

There is no treatment, and when Karen Aiach’s daughter Ornella was diagnosed with Sanfilippo syndrome A, no companies were even working on the disease.

As a mother, Aiach could not accept that. …

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Wine used to toast CGD gene therapy trial linked to decades-long scientific journey

Posted on June 15, 2016June 15, 2016 by Irene Sege

Posted in People, Science, Therapeutics

More On: chronic granulomatous disease, David Williams, gene therapy, hematology

CGD — Brenden Whittaker (left) and David Williams, MD (photo: Sam Ogden)

When Brenden Whittaker of Columbus, Ohio, the first patient treated with gene therapy for chronic granulomatous disease (CGD), showed successful engraftment last winter, the gene therapy team lifted glasses for a celebratory toast. The wine they sipped was no ordinary wine. The 2012 Bordeaux blend came from an award-winning California vineyard owned and operated by Robert Baehner, MD, a pioneering pediatric hematologist with ties to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Decades before, Baehner had done fundamental research in CGD, an inherited immune system disorder that occurs when phagocytes, white blood cells that normally help the body fight infection, cannot kill the germs they ingest and thus cannot protect the body from bacterial and fungal infections.

Children with CGD are often healthy at birth, but develop severe infections in infancy and early childhood from bacteria that would cause mild disease or no illness at all in a healthy child. This was true for Whittaker. Diagnosed with CGD when he was 1, his disease became increasingly severe, forcing him to quit school several years ago. …

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Forty years waiting for a cure: ALD gene therapy trial shows early promise

Posted on April 21, 2016August 22, 2017 by Emily Williams

Posted in Science

More On: adrenoleukodystrophy, ALD, Dana-Farber Boston Children's, David Williams, gene therapy, neurodegenerative disease, neurodegenerative disorders, stem cell research, stem cell transplants

Ethan, who was diagnosed with ALD when he was 9, with his sister Emily — Ethan and me, June 1977

A small piece of notepaper, folded twice, sits tucked in a slot of the secretary desk in the living room. Every so often, I pull it out, read it, then reread.

Addressed to my mom, the paper has a question and two boxes, one “yes” and one “no,” written with the careful precision of a 7-year-old.

I am sad of Ethan. You too?

A check marks the box.

— Yes. Yes, I am sad too.

Learning about adrenoleukodystrophy

My brother Ethan Williams was 9 years old in the fall of 1976, when he began to lose his sight. For my parents, that winter brought an endless round of doctor visits, therapists and lab tests. …

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