Opinion: Breakthrough therapies have given Duchenne muscular dystrophy families like mine hope — and new fears
Duchenne muscular dystrophy has seen more progress in the past 15 months (give or take)…
Category: rare disease
STAT+: How controversial was the decision by FDA’s Peter Marks to approve Sarepta’s gene therapy? Check its footnotes
The unilateral decision by Peter Marks, a top official at the Food and Drug Administration,…
STAT+: FDA rejects Rocket Pharmaceuticals’ gene therapy for ultra-rare condition, another setback for field
Rocket Pharmaceuticals said Friday that the Food and Drug Administration rejected its gene therapy for…
STAT+: What the Sarepta decision means for Duchenne patients, the company, and the FDA
Sarepta Therapeutics always wins. That was a given, even before the Food and Drug Administration…
STAT+: Vertex reaches a new deal with NHS England over its pricey cystic fibrosis treatments
After months of haggling, Vertex Pharmaceuticals and the National Health Service in England reached agreement…
STAT+: Avidity Biosciences says its experimental drug showed potential against form of muscular dystrophy
Avidity Biosciences said Wednesday morning that an experimental medicine successfully knocked down the gene behind…
STAT+: Intellia’s CRISPR-based treatment dramatically reduced patients’ swelling attacks in small trial
Intellia Therapeutics said Saturday that the first 10 patients to receive a CRISPR-based treatment for…
STAT+: Ionis drug prevents swelling attacks caused by rare genetic disease in late-stage trials
Ionis Pharmaceuticals, a California company that pioneered a whole class of RNA-targeted medicines, reported on…
STAT+: Ultragenyx gene therapy for rare liver ailment succeeds in late-stage trial
Ultragenyx said Thursday afternoon that its gene therapy for a rare liver ailment, glycogen disease…
STAT+: Did Sarepta Therapeutics earn $4 billion from exon-skipping drugs that don’t work?
This is the online edition of Adam’s Biotech Scorecard, a subscriber-only newsletter. STAT+ subscribers can…
STAT+: In a scientific first, researchers use CRISPR base editing to treat liver disease in fetal monkeys
The ambitious idea of using CRISPR to cure genetic diseases before birth is one step…
STAT+: Ultragenyx reports early success with Angelman syndrome drug, backing up 2022 acquisition
Ultragenyx has found early success with its experimental treatment for the rare disease Angelman syndrome,…
STAT+: FDA agrees to review a rare disease drug that its developer was about to give up on
File this under “Not a moment too soon.” After years of back-and-forth deliberations, the U.S….
STAT+: Sanofi ends deal for a rare disease drug after FTC voices monopoly concerns
In its latest bid to police the pharmaceutical industry, the U.S. Federal Trade Commission sought…
Listen: Racing for gene therapy, a pioneering approval, & startups in the lurch
What difference does a day make? Who gets to have gene therapy? And are biotech…
STAT+: FDA approves first treatment for ultra-rare bone disease
U.S. regulators on Wednesday approved the first treatment for an ultra-rare disease that causes people…
STAT+: In the case of a devastating disease, the FDA weighs an experimental drug’s muddled data and a desperate need
Emma Albee knows the experimental drug she takes is not a cure. It won’t allow…
STAT+: Anavex, maker of rare disease drug, keeps shifting the goalposts in its clinical trials
Anavex Life Sciences is in a tough spot. The serial dissembler of clinical trial results…
A young girl’s custom gene therapy hints at a framework for tailored rare disease treatments
When Timothy Yu developed milasen, a custom drug for a young girl named Mila with…
Opinion: A seemingly small semantic issue is a major roadblock to develop treatments for rare diseases
Finding a new medicine is never easy. But developing treatments for patients with rare diseases…
STAT+: FDA approves first treatment for skin condition that causes persistent wounds, a redosable gene therapy
The Food and Drug Administration on Friday approved the first treatment for a devastating condition…
Opinion: Three misconceptions about the accelerated drug approval pathway
On Friday, the Food and Drug Administration’s Cellular, Tissue and Gene Therapies Advisory Committee will…
STAT+: Gene therapy has helped boys like Conner walk. Scientists are trying to keep it that way
In the beginning, Conner Curran ran up the stairs. It was a miraculous moment for…
Large European study underlines power of genomic sequencing to diagnose diseases
LONDON — Using genome sequencing greatly expanded the number of diagnoses researchers could provide for…
STAT+: Brazilian committee says a Vertex cystic fibrosis is not cost-effective and should not be reimbursed
A Brazilian government advisory committee recommended that the health ministry not pay for a cystic…
STAT+: A young boy’s nightmare diagnosis, and the $3 million one-time treatment that will likely save his life
When the long-awaited moment arrived, a nurse helped Adam Hess loosen a tiny plastic clamp…
STAT+: A devastating skin condition could soon get its first medication, as the frontiers of gene therapy expand
Wounds have been a constant fact of Aaron Owens’ life. His skin is so fragile…
STAT+: Researchers devise new strategies to overcome a key CRISPR flaw
DALLAS — It took just three years, after the tool’s invention, for researchers to devise…
STAT+: Top FDA official: Agency needs to start using accelerated approval for gene therapies
DALLAS — A top Food and Drug Administration official said Monday that the agency needs…
STAT+: Gene therapy can transform life for people with hemophilia. But some patients don’t want it.
Given everything he’s been through, Bobby Wiseman says he should have been dead instead of…
Opinion: As it turns 40, the Orphan Drug Act for rare diseases needs a refresh
This month marks the 40th anniversary of the Orphan Drug Act. Since it was signed…
In a first, children with rare genetic diseases get mitochondrial transplants from their mothers
At a far distant point in Earth’s ancient past, two separate, single-celled life forms —…
Amgen’s $27.8 billion Horizon merger is latest industry bet on pricey rare disease drugs
Amgen said Monday it would purchase Horizon Pharmaceuticals for $27.8 billion, marking the latest bet…
‘All the tech in the world doesn’t solve this’: Rare disease experts push biopharma on equity
Over the past few years, the biopharmaceutical industry has revved up efforts to diversify clinical…
STAT+: On the long road to treating Huntington’s genetic stutter, scientists return to overlooked clues
In the spring of 1981, a geneticist from Indianapolis and a neurologist from Chicago got…
STAT+: Muscular dystrophy patient who was first in line for a custom CRISPR therapy dies
A man with muscular dystrophy who was first in line to receive an experimental gene…
House Democrat presses bill to encourage more diversity in clinical trials run by NIH
Rep. Robin Kelly admits that the word “diversity” has scared some of her Republican colleagues…
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At a fashion show for people with spinal muscular atrophy, models take back their own stories
NEW YORK — The scene: a fashion show on Fifth Avenue. The catwalk was not…
Opinion: The FDA needs to be more flexible in assessing treatments for rare diseases, like the one that seemed to help my son
Every time I read about clinical trials testing possible treatments for rare diseases, I think…
STAT+: Blueprint Medicines drug reduces mastocytosis symptoms in a new study, meeting investor expectations
A drug made by Blueprint Medicines markedly improved symptoms of a rare immune system disorder…
STAT+: Novartis reports two children died from acute liver failure after treatment with Zolgensma gene therapy
Two children have died from acute liver failure after being administered Zolgensma, a pricey gene…
STAT+: At pioneering center for gene therapy, Jim Wilson presided over toxic, abusive workplace, staffers say
Scientist Jim Wilson is synonymous with gene therapy — and for good reason. For decades,…
Opinion: The Morris ALS Principles: A model for empowering all disease communities
The FDA’s decision to delay its highly anticipated review of AMX0035, a new drug for…
STAT+: ‘No magic bullet’: For drugmakers and the FDA, clinical trials on ultra-rare diseases pose thorny challenges
Walker Burger is beside himself with worry. The 33-year-old relies on an experimental medicine to…
Opinion: There’s no ‘Moonshot’ or ‘Warp Speed’ for rare diseases. There should be
The term “rare disease” is both an apt descriptor and a misnomer. Individually, each rare…
STAT+: FDA advisers endorse Bluebird gene therapy for rare blood disorder
A panel of advisers to the Food and Drug Administration voted unanimously to recommend approval…
FDA advisers unanimously endorse Bluebird’s gene therapy for rare disorder
Advisers to the Food and Drug Administration voted unanimously in favor of approving an investigational…
Opinion: The Access to Rare Indications Act could be a game changer for millions of Americans
The term “medically necessary” is the yardstick by which insurance companies, including Medicare and Medicaid,…
Child’s autopsy from 2008 becomes a clue to mystifying polio-like illness
Within days, the boy went from having cold symptoms to being unable to walk. To…
Opinion: Take a stand for those who can’t with the Promising Pathway Act
Every five years since 1992, Congress has reauthorized the Food and Drug Administration user fee…