Mirum drug for rare genetic disease gains FDA approval
Bio Pharma Dive
FEBRUARY 24, 2025
Mirum gained the drug, which it will sell as Ctexli for adults with cerebrotendinous xanthomatosis, in a 2023 deal with Travere Therapeutics.
FDA Approval Genetic Disease Genetics 
Neurocrine Biosciences’ Crenessity Approved as First New Treatment in Decades for Rare Genetic Disorder CAH
XTalks
DECEMBER 18, 2024
The therapy is approved to be used in combination with glucocorticoid replacement therapies (steroids) to control androgen levels in adults and pediatric patients four years of age and older with classic CAH.
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Alyftrek: Vertex Expands Cystic Fibrosis Treatment with Triple-Action Combo
XTalks
JANUARY 6, 2025
The US Food and Drug Administration (FDA) has approved Alyftrek (vanzacaftor/tezacaftor/deutivacaftor), a next-in-class triple combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator, to treat cystic fibrosis (CF) in patients aged six years and older with at least one F508del mutation or another responsive CFTR mutation.
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Ctexli (Chenodiol) Gains FDA Approval as First CTX Treatment
XTalks
FEBRUARY 25, 2025
Mirum Pharmaceuticals, a biotech innovator known for developing therapies for rare metabolic disorders, now has FDA approval for its new treatment, Ctexli (chenodiol) tablets the first and only medication approved for cerebrotendinous xanthomatosis (CTX) in adults.
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STAT+: FDA approves first treatment for Rett syndrome, a genetic neurological disease
STAT News
MARCH 11, 2023
The Food and Drug Administration on Friday approved the first treatment for Rett syndrome, a genetic disease mostly affecting girls that causes severe neurologic impairments, robbing them of the ability to communicate or control muscle movement. The new drug, called Daybue, is made by Acadia Pharmaceuticals.
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US FDA approves Krystal Biotech’s Vyjuvek for DEB
Pharmaceutical Technology
MAY 22, 2023
It is claimed to be both the first re-dosable gene therapy and the first and only FDA-approved treatment for both recessive and dominant types of DEB, a rare and serious genetic disease affecting the skin and mucosal tissues.
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FDA Approves BioMarin’s Voxzogo for Young Children with Dwarfism
BioSpace
OCTOBER 22, 2023
The label for the achondroplasia drug, which promotes endochondral bone growth, now covers children under five years of age with the rare genetic disease causing the most common form of dwarfism.
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Hympavzi (Marstacimab): FDA Approves First Once-Weekly and Pfizer’s Second Hemophilia Therapy
XTalks
OCTOBER 16, 2024
Hympavzi’s approval, with its innovative approach to balancing clotting, could offer a modern solution that adds to the global effort to reduce the risk of thrombosis. This is Pfizer’s second FDA-approved treatment for a rare genetic blood disorder this year.
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FDA Approval of Sanofi’s Enzyme Replacement Drug for ASMD + Disney Actress Partners with Medtronic for Diabetes Tech Campaign – Xtalks Life Science Podcast Ep. 77
XTalks
SEPTEMBER 14, 2022
In this episode, Ayesha discussed the FDA approval of Sanofi’s enzyme replacement therapy Xenpozyme for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD), a rare genetic lysosomal storage disease, in adults and pediatric patients.
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CAMP4’s funding influx paves the way for tapping regulatory RNA to treat urea cycle disorders
Pharmaceutical Technology
JULY 29, 2022
However, in patients with urea cycle disorders, genetic defects result in inadequate amounts of the enzymes needed to convert nitrogen into urea. In 2013, the US Food and Drug Administration (FDA) approved Ravicti (glycerol phenylbutyrate), manufactured by Hyperion Therapeutics, which has since then been acquired by Horizon Pharma.
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Tryngolza (Olezarsen) Becomes First FDA-Approved Drug for Familial Chylomicronemia Syndrome
XTalks
JANUARY 3, 2025
For the first time in the US, adults living with familial chylomicronemia syndrome (FCS) have an FDA-approved treatment option. FCS is a rare genetic disorder that prevents the body from properly breaking down triglycerides (a type of fat in the blood), leading to dangerously high levels.
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The downside of VC funding for biotech
World of DTC Marketing
JANUARY 24, 2022
” “More than 50% of FDA-approved medicines now have their start in venture-backed private biotech companies in the United States. These are the groundbreaking treatments for cancer, genetic diseases, and other scourges,” said Arjun Goyal, M.D., co-founder, and managing director at Vida Ventures.
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FDA Approves Imcivree (setmelanotide) for Chronic Weight Management in Patients with Obesity Due to POMC, PCSK1 or LEPR Deficiency
The Pharma Data
NOVEMBER 27, 2020
FDA Approves Imcivree (setmelanotide) for Chronic Weight Management in Patients with Obesity Due to POMC, PCSK1 or LEPR Deficiency. Nasdaq:RYTM), a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic diseases of obesity, announced today that the U.S. BOSTON, Nov.
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Vertex gets EU okay to treat younger cystic fibrosis patients
pharmaphorum
NOVEMBER 27, 2020
The new EU approval comes after the FDA approved the expanded label last year, and provides the first treatment option that tackles the underlying cause of CF in patients aged six to 11 with these mutations. It is caused by a defective or missing CFTR gene, and there are around 75,000 people worldwide with the disease.
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Vyjuvek Gets FDA Nod as First Topical Gene Therapy for Rare Skin Disease
XTalks
MAY 26, 2023
Krystal Biotech’s Vyjuvek has been awarded US Food and Drug Administration (FDA) approval to make it the first topical gene therapy for the treatment of wounds in patients with the rare, often debilitating skin disease dystrophic epidermolysis bullosa (DEB).
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Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP
XTalks
NOVEMBER 10, 2023
“As we strive to help patients with limited or no treatment options, developing innovative treatments in rare diseases is an inspiring challenge and one we have taken on for 70-plus years as a leader in hematology. The study evaluated both prophylactic and on-demand Adzynma ERT compared to plasma-based therapies in cTTP patients.
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Amicus’ Pombiliti and Opfolda Is a New Therapy for Pompe Disease
XTalks
NOVEMBER 27, 2023
Amicus Therapeutics has recently received approval from the US Food and Drug Administration (FDA) for its drugs Pombiliti (cipaglucosidase alfa-atga) and Opfolda (miglustat) for adults living with late-onset Pompe disease (LOPD) who are not improving on their current enzyme replacement therapy (ERT).
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Nobelpharma America Launches Educational Website for TSC-Associated Facial Angiofibroma
XTalks
JANUARY 27, 2023
The website brings awareness for facial angiofibroma, an aspect of the rare genetic disease tuberous sclerosis complex (TSC). ” In March 2022, Nobelpharma received approval from the US Food and Drug Administration (FDA) for its topical treatment for facial angiofibroma called Hyftor (sirolimus topical gel) 0.2
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Sharing Colours on Rare Disease Day 2022
XTalks
FEBRUARY 28, 2022
In the US, 25 to 30 million Americans, or one in ten, are living with a rare disease. Are Most Rare Diseases Genetic? While 72 percent of rare diseases are genetic, not all are. Rare genetic diseases can be caused by either somatic or germline genetic changes. The orphan drug designation was.
After Daybue’s Approval: Acadia Pharmaceuticals’ Next Steps for the Rett Syndrome Community
XTalks
MAY 12, 2023
Rett syndrome is a rare genetic disorder that predominantly affects girls and leads to severe physical and cognitive impairments. In March, the US Food and Drug Administration (FDA) approved Daybue (trofinetide) , the first and only treatment for Rett syndrome. It affects around one in 10,000 girls born each year.
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BioCryst Announces FDA Approval of ORLADEYO, First Therapy to Prevent HAE Attacks in Adults
The Pharma Data
DECEMBER 3, 2020
HAE is a potentially life-threatening, rare genetic disease characterized by episodes of acute swelling of the skin, pharynx, larynx, gastrointestinal tract, genitals and other extremities. With this decision by the MHRA, the wait for many HAE patients in the UK can end sooner,” said Jon Stonehouse, chief executive officer of BioCryst.
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Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio
XTalks
MAY 17, 2023
In 2022, the FDA approved four new gene therapies, and more than a handful are looking to get approval this year for diseases including Duchenne muscular dystrophy (DMD), sickle cell disease (SCD) and hemophilia A. In the US, more than 30 million people live with a rare disease.
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Covid-19 vaccine success bolsters nanoparticle drug delivery research
Pharmaceutical Technology
APRIL 24, 2023
Covid-19 vaccines from Moderna and Pfizer /BioNTech, which use lipid nanoparticles, became the only two FDA-approved vaccines for almost all ages. However, after a period of slow movement in the field, the FDA approved the first nanodrug, Doxil, for Kaposi sarcoma in 1995.
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GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication
XTalks
AUGUST 6, 2020
The US Food and Drug Administration (FDA) has approved the use of an oral cannabidiol (CBD) solution called Epidiolex for the treatment of seizures associated with tuberous sclerosis complex (TSC) in patients aged one year and older. Epidiolex is the only FDA-approved formulation that contains CBD derived from the cannabis plant.
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Vertex, CRISPR prep filing for gene-editing blood disorder therapy
pharmaphorum
SEPTEMBER 28, 2022
. “We continue to work with urgency to bring forward the first CRISPR therapy for a genetic disease,” said Nia Tatsis, Vertex’ chief regulatory and quality officer, in a statement.
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Spevigo Becomes First Treatment Option for Generalized Pustular Psoriasis Flares
XTalks
SEPTEMBER 22, 2022
On September 1, 2022, Boehringer Ingelheim Pharmaceuticals announced in a press release that the US Food and Drug Administration (FDA) approved Spevigo (spesolimab-sbzo) intravenous injections for GPP flares in adults. Spevigo is the first approved treatment option for GPP in adults. A Promising Treatment for a Rare Disease.
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Lamzede Gets Approved for Rare Disease Alpha-Mannosidosis
XTalks
FEBRUARY 27, 2023
Chiesi Global Rare Diseases recently announced in a press release that Lamzede (velmanase alfa-tycv) received US Food and Drug Administration (FDA) approval for the treatment of non-neurological manifestations of alpha-mannosidosis in both adult and pediatric patients.
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Aqneursa Joins the Ranks with Miplyffa, Expands Niemann-Pick Disease Type C Treatments
XTalks
SEPTEMBER 25, 2024
In a significant regulatory milestone, the US Food and Drug Administration (FDA) approved Aqneursa (levacetylleucine) for treating neurological symptoms associated with Niemann-Pick disease type C (NPC). NPC, caused by mutations in the NPC1 or NPC2 gene, typically shortens life expectancy to around 13 years.
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FDA advisors unconvinced by Reata’s kidney disease drug
pharmaphorum
DECEMBER 9, 2021
An FDA advisory committee has delivered a blow to Reata Pharma, after voting unanimously that the drugmaker’s data on bardoxolone – a drug for kidney disease – did not show it is effective. In severe firms, the disease leads to progressive kidney damage with patients often needing dialysis.
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FDA Action Alert: Y-mAbs, Vanda, Alnylam and BioCryst
The Pharma Data
NOVEMBER 29, 2020
The FDA approved the drug on November 24. PH1 is an ultra-rare genetic disease marked by overproduction of oxalate, which causes deposits of calcium oxalate crystals in the kidneys and urinary tract and can lead to painful and recurrent kidney stones, nephrocalcinosis, progression to kidney failure, and system organ dysfunction.
Miplyffa Approved as First Treatment for Niemann-Pick Disease Type C (NPC)
XTalks
SEPTEMBER 25, 2024
It is estimated that 900 people are living with NPC in the US, of which approximately one-third have been formally diagnosed with this ultra-rare, relentlessly progressive and fatal neurodegenerative disease. NPC is a rare genetic disorder that leads to progressive neurological symptoms and organ dysfunction.
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Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial
XTalks
SEPTEMBER 17, 2020
Janssen’s Nizoral (ketoconazole), Bristol Myers Squibb’s Lysodren (mitotane), Novartis’ Metopirone (metyrapone) and Corcept Therapeutics’ Korlym (mifepristone) are all cortisol-inhibiting medications that may be prescribed to treat Cushing’s disease. Novartis’ Signifor (pasireotide) is also indicated in the treatment of the disease.
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Sanofi’s Qfitlia Gets FDA Approval as First siRNA Therapy for Hemophilia
XTalks
APRIL 1, 2025
Qfitlia is also the first antithrombin-lowering therapy approved for routine prophylaxis in hemophilia A or B. Hemophilia A and B are rare genetic bleeding disorders caused by a deficiency or dysfunction of clotting factors VIII (FVIII) and IX (FIX), respectively. The ATLAS-INH study involved on-demand/episodic use of bypassing agents.
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Biopharma Money on the Move: December 2 – 8
The Pharma Data
DECEMBER 8, 2020
The impact of CNS diseases extends beyond patients—to their families and society as well.” The assumption is SciNeuro will start with Parkinson’s disease and pain in addition to rare genetic diseases, after scaling up staffing. .
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bluebird bio wins back-to-back landmark FDA approvals for first-in-class gene therapies
Pharmaceutical Technology
SEPTEMBER 30, 2022
Skysona is indicated as a one-time gene therapy to slow the progression of cerebral adrenoleukodystrophy (CALD), a rare paediatric neurodegenerative disease in boys aged 4–17 years diagnosed with early-stage CALD. These approvals represent crucial milestones for bluebird bio, the gene therapy field, and patients with rare genetic diseases.
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BridgeBio’s Attruby (Acoramidis): A New, More Potent TTR Stabilizer for ATTR-CM
XTalks
NOVEMBER 26, 2024
BridgeBio has been highly active in the genetic diseases space. Its investigational therapy infigratinib recently received Breakthrough Therapy designation, becoming the first-ever potential treatment for achondroplasia — a genetic condition affecting bone growth — to achieve this milestone.
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Lyfgenia and Casgevy Become First FDA-Approved Gene Therapies for Sickle Cell Disease
XTalks
DECEMBER 13, 2023
This approval also marks bluebird’s third ex vivo gene therapy approved by the FDA for a rare genetic disease and second FDA approval for an inherited hemoglobin disorder, cementing our position as a gene therapy leader.”
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Sanofi’s Enzyme Replacement Therapy Xenpozyme Wins FDA Approval for Rare Disease ASMD
XTalks
SEPTEMBER 12, 2022
After approvals in Japan and Europe, Sanofi’s Xenpozyme has secured one from the US Food and Drug Administration (FDA) for the treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients. Patients in the trial received Xenpozyme or placebo for 52 weeks.
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Sarepta’s Gene Therapy Elevidys Under Scrutiny After Patient Death
XTalks
MARCH 19, 2025
Elevidys is the first FDA-approved gene therapy for DMD a rare genetic disorder characterized by progressive muscle degeneration. DMD is a rare, progressive and fatal disease. Sarepta is reviewing all available data. It will update Elevidys prescribing information and adjust monitoring protocols as necessary.
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Lenmeldy, First Approved MLD Gene Therapy for Children, Becomes Most Expensive Drug in the US at $4.25 Million
XTalks
MARCH 21, 2024
The US Food and Drug Administration (FDA) has awarded approval to Orchard Therapeutics for its gene therapy Lenmeldy (atidarsagene autotemcel) for the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
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FDA Approves Oxlumo (lumasiran) for the Treatment of Primary Hyperoxaluria Type 1
The Pharma Data
NOVEMBER 24, 2020
FDA Approves Oxlumo (lumasiran) for the Treatment of Primary Hyperoxaluria Type 1. Food and Drug Administration (FDA) approved Oxlumo (lumasiran) injection for subcutaneous use, the first-ever therapy available for the treatment of primary hyperoxaluria type 1 (PH1) to lower urinary oxalate levels in pediatric and adult patients.
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FDA approves new treatment for Pompe disease
The Pharma Data
AUGUST 9, 2021
“Pompe disease is a rare genetic disease that causes premature death and has a debilitating effect on people’s lives,” said Janet Maynard, M.D., deputy director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research.
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10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases
XTalks
APRIL 24, 2023
Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.
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BridgeBio Pharma’s Nulibry Approved as First Treatment for Molybdenum Cofactor Deficiency Type A
XTalks
MARCH 3, 2021
The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.
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