Stories about: adrenoleukodystrophy

Gene therapy halts progression of cerebral adrenoleukodystrophy in clinical trial

David Williams, MD, the principal investigator of the clinical trial, discusses gene therapy and its impact on children with adrenoleukodystrophy

Adrenoleukodystrophy — depicted in the 1992 movie “Lorenzo’s Oil” — is a genetic disease that most severely affects boys. Caused by a defective gene on the X chromosome, it triggers a build-up of fatty acids that damage the protective myelin sheaths of the brain’s neurons, leading to cognitive and motor impairment. The most devastating form of the disease is cerebral adrenoleukodystrophy (CALD), marked by loss of myelin and brain inflammation. Without treatment, CALD ultimately leads to a vegetative state, typically claiming boys’ lives within 10 years of diagnosis.

But now, a breakthrough treatment is offering hope to families affected by adrenoleukodystrophy. A gene therapy treatment effectively stabilized CALD’s progression in 88 percent of patients, according to clinical trial results reported in the New England Journal of Medicine. The study was led by researchers from the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and Massachusetts General Hospital.

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

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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Moving gene therapy into high gear

A healthy copy of the affected gene is introduced into the patient's stem cells by means of a vector, a genetically altered virus that does not cause ongoing infection. The stem cells, corrected for the defect, are infused back into the patient. (Click to enlarge.)

Gene therapy, still experimental but beginning to enter the clinic, attempts to utilize advanced molecular methods to treat and even reverse genetic diseases. The field started in earnest about 25 years ago and has had many setbacks along the way to its recent earliest successes.

International collaboration has been critical. Children’s Hospital Boston is one of the founding members of the Transatlantic Gene Therapy Consortium (TAGTC), a new collaboration that seeks to facilitate a more rapid advancement of this technology for treating human diseases. It was initiated shortly after the first trials of gene therapy for X-linked Severe Combined Immunodeficiency (X-SCID) (in both Paris and London) reported leukemia as a serious side effect. The TAGTC was formed to address this setback, developing safer gene therapy reagents, sharing the costs of their development, and then implementing new gene therapy trials for rare diseases across multiple international sites.

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