Tag Archives: rare diseases

The FDA charts a new route for bespoke therapies

Posted on by
Reply

Inspired by the Baby KJ case, the agency proposes a flexible framework allowing personalized treatments for individual patients to contribute to shared, platform-based approvals.

The announcement appeared on November 12 in the New England Journal of Medicine under a seemingly cautious title: “The FDA’s New Plausible Pathway.” Yet the article, written by two senior figures at the Food and Drug Administration, reveals vision and leadership. For once, it is worth starting from the end, which reads like a strong statement of intent: “Nearly 30 years after the sequencing of the human genome, bespoke therapies are close to reality. The FDA will work as a partner and guide in ushering these therapies to market, and our regulatory strategies will evolve to match the pace of scientific advances.”

Continue reading →

Baby KJ Effect: the new horizon of bespoke CRISPR therapies

Posted on by
Reply

The FDA is set to authorize “umbrella” clinical trials for rare diseases; the new approach will make the process faster and more sustainable by combining data from similar protocols, cutting redundant procedures, and reducing animal testing.

Continue reading →

Beyond Baby KJ: manufacturing lessons for the next CRISPR cures

Posted on by
Reply

The coordinated effort that last spring saved the life of little KJ Muldoon earned widespread and enthusiastic media coverage. But between the invention of the treatment and its delivery to the patient lay a lesser-told story: an unprecedented manufacturing sprint. Genetic Engineering & Biotechnology News organized an online roundtable led by its deputy editor in chief, Julianna LeMieux, to discuss how therapeutic components were produced quickly, cost-effectively, and to clinical-grade standards.

Continue reading →

Hi I’m JK, the first baby treated with a personalized CRISPR therapy

Posted on by
Reply

The announcement was made yesterday at the annual meeting of the American Society of Gene & Cell Therapy and simultaneously published in the New England Journal of Medicine. I wrote about it for the Italian edition of Scientific American, but this story is worth seeing and reading.
PS: Before KJ was treated for his metabolic disorder, there was the case of Terry Horgan, who had muscular dystrophy. Unfortunately, the personalized treatment for him came too late, and he did not survive an adverse reaction. So yes, we can say that KJ represents a first: the first time genome editing was used early, rapidly, and tailored enough to truly offer hope for a happy ending.

India’s way to CRISPR cures

Posted on by
Reply

Uditi Saraf died before receiving treatment, but efforts launched for her could help spell a happy ending for other patients awaiting advanced life-saving therapies

Uditi Saraf with her mother. Credit: Rajeev and Sonam Saraf

Familial encephalopathy with neuroserpin inclusion bodies is a rare neurodegenerative disease with no cure due to the accumulation of toxic proteins in the brain. Depending on the specific mutation, the age of onset can vary greatly. In Uditi Saraf’s case, the first symptoms started early, at age 9. As she worsened, her parents decided to have her genome sequenced, identifying the genetic defect and diagnosing the condition. Their race against time to try to save their daughter was chronicled in an article in Nature, which also offers a glimpse into India’s efforts to make genomic treatments more accessible (see also Nature Biotechnology on gene and cell therapies in the Global South).

A success story with a half happy ending

Posted on by
Reply

Jacob Peckham, 11, can see much better after receiving an experimental CRISPR-based treatment. The American child, a carrier of a genetic defect that impairs the retina, has had surgery on only one eye and hopes to complete the treatment in the future. However, his wish is unlikely to be granted because the company that developed the treatment (Editas) had to abandon the program due to affordability issues. To give a future to treatments for rare diseases such as this one, insists editing pioneer Fyodor Urnov, it is crucial to build a new model for research, development, and production – that is, to simplify, standardize, integrate, scale up.