pharmaphorum

OCTOBER 16, 2020

These techniques make the production of and access to high-quality data on rare diseases the gateway to treatment identification, and so are proving more crucial than ever for organisations in pharma. Findacure is a charity that works directly with rare disease patient groups to help them grow and professionalise.

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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). As a topical treatment, it is also the first readily redosable gene therapy.

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Gene Therapy Gene FDA Approval Dermatology 97

XTalks

NOVEMBER 27, 2023

The body relies on this enzyme to break down glycogen, a stored form of sugar utilized for energy production. In contrast, those who received a non-US-approved alglucosidase alfa product with placebo walked an average of 8 meters farther from their baseline.

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FDA Approval Clinical Trials Clinical Trials Trials 104

XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. It also provides hope for these patients and their families and is yet another important milestone for Epidiolex as a first-in-class antiepileptic drug.”.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

The Pharma Data

DECEMBER 8, 2020

December is bringing frost in the North and plenty of cold hard cash for these life sciences companies. . European venture capital firm Forbion rounded up $545 million for its fifth life sciences fund. Through its Shielded Living Therapeutics platform, the company is developing functional cures for chronic diseases.

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RNA Antibody Life Science Protein 52

XTalks

SEPTEMBER 17, 2020

In the case of the former, pharmaceutical and biologics companies would be eligible for approval of their product through traditional regulatory pathways; the latter could support accelerated approval. Symptoms and Etiology: Cushing’s disease is a disorder caused by excess cortisol which is often the result of a pituitary adenoma.

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Trials Gene Hormones Clinical Trials 98

XTalks

NOVEMBER 10, 2023

The US Food and Drug Administration (FDA) has approved Takeda Pharmaceuticals’ Adzynma, the first recombinant protein product for prophylactic (preventive) or on‑demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP), an ultra-rare blood clotting disorder.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

XTalks

JANUARY 3, 2025

FCS also severely impacts quality of life, causing chronic fatigue and recurrent stomach pain. By lowering its production, Tryngolza significantly reduces triglyceride levels in the blood. Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism.

FDA Approval 59

FDA Approval Drugs Clinical Trials Clinical Trials 59

XTalks

OCTOBER 8, 2024

Apitegromab has received Fast Track, Orphan Drug and Rare Pediatric Disease designations from the US Food and Drug Administration (FDA), along with Priority Medicines (PRIME) and Orphan Medicinal Product designations from the European Medicines Agency (EMA).

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Trials Antibody Genetics Medicine 52

XTalks

DECEMBER 29, 2022

The life sciences and healthcare are among the biggest industries globally, and their significance was particularly highlighted during the past couple of years by the COVID-19 pandemic. Given the hyperfocus on the life sciences thanks to COVID, consumers appear to be more autonomous and vocal about their medical demands and choices.

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XTalks

OCTOBER 1, 2020

Sooter has also found success in industry, leading and bringing together the work of different teams of researchers at NeuBase to help drive the company’s goal of developing cures and treatments for genetic diseases, including Huntington’s Disease. Funding in the Life Science Industry vs. Academia.

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XTalks

DECEMBER 22, 2021

If the past year is anything to go by, then 2022 will also be a year marked by continued innovations in the life sciences. The development and widespread adoption of new technologies is key to revolutionizing the way we diagnose, prevent, treat and manage disease. The RNA Revolution: From mRNA Vaccines to RNA Editing.

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Life Science RNA Vaccination Vaccine 98

XTalks

APRIL 1, 2025

Management typically involves on-demand treatment or preventive (prophylactic) therapy using FVIII or FIX replacement products, or agents that mimic the function of these factors. The frequent intravenous infusions can be challenging for patients. Qfitlia differs from traditional factor replacement therapies.

FDA Approval 59

FDA Approval RNA Clinical Trials Clinical Trials 59

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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Gene Therapy Gene Trials Clinical Trials 95

XTalks

MARCH 21, 2024

Orchard said the steep price “reflects its clinical, economic and societal value,” including the “potential long-term impact treatment may have on overall healthcare utilization, minimization of productivity loss for caregivers and life opportunities for patients.” million, the highest value-based price ever assessed by ICER.

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XTalks

MARCH 19, 2025

Last month, Sarepta reported that in the fourth quarter of 2024 , Elevidys generated net product revenues of $384.2 The company had projected total net product revenues between $2.9 In early 2023, a two-year-olds death in a Phase II trial prompted further safety assessments and dosing adjustments. billion and $3.1 billion for 2025.

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Gene Therapy Gene Genetics Clinical Trials 80

XTalks

FEBRUARY 14, 2022

The UK’s National Health Service (NHS) has recommended the use of Libmeldy for the treatment of the rare genetic disease metachromatic leukodystrophy (MLD). He added that, “A deep body of evidence now points to the potential for durable effects in HSC gene therapy for certain severe genetic diseases including MLD.

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Gene Therapy Gene Drugs Gene Silencing 98

XTalks

FEBRUARY 24, 2025

If approved, donidalorsen would be the companys second independent commercial product after the December 2024 approval of Tryngolza (olezarsen) as the first treatment for familial chylomicronemia syndrome (FCS).

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Trials RNA Allergies Drugs 59

XTalks

DECEMBER 13, 2023

While Lyfgenia delivers a functional copy of hemoglobin A to replace the abnormal one in hematopoietic (blood) stem cells via a lentiviral vector, Casgevy edits the HBB gene using CRISPR technology to increase the production of fetal hemoglobin in blood stem cells.

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Gene Therapy Gene FDA Approval In-Vivo 98

XTalks

APRIL 15, 2021

It’s not just one disease,” says Dr. Irene Blat, PhD, senior director of data products and analytics, Genuity Science. A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved.

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Development Drugs Genome Genomics 98

The Pharma Data

JANUARY 17, 2021

Based in Seattle, Washington, Sana focuses on in vivo and ex vivo cell engineering platforms to develop therapies for cancer, diabetes, cardiovascular disease, CNS disorders, and genetic diseases. Early-stage companies are often years, often a decade or longer, from a marketable product.

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In-Vivo Marketing Engineer Genetics 52

XTalks

DECEMBER 13, 2023

Modern is making significant strides in advancing its mRNA technology and diversifying its product portfolio to address a broad spectrum of medical conditions. The company is unwavering in its commitment to creating and introducing innovative vaccines that safeguard the global population against infectious diseases. million and $18.0

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Genetics Vaccination Vaccine DNA 111

XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. It is characterized by a deficiency in molybdenum cofactor production. The approval was granted to BridgeBio Pharma, Inc. Nasdaq: BBIO ) and its affiliate Origin Biosciences, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

The Pharma Data

OCTOBER 15, 2020

Sabbagh will be responsible for expanding Inozyme’s proprietary pipeline by identifying and developing new therapeutics for monogenic and non-genetic diseases of abnormal mineralization. Prior to joining Inozyme, Sabbagh served as the head of rare renal and musculoskeletal diseases research at Sanofi.

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XTalks

SEPTEMBER 13, 2021

With RNA therapies being the next hot thing in genetic medicine, Eli Lilly is joining the RNA editing race by partnering with Netherlands-based ProQR Therapeutics NV (Nasdaq: PRQR), a biotech company developing RNA-based therapies for rare genetic diseases with a focus on blinding disorders of the retina.

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RNA Genetics Genetic Disease Medicine 105

XTalks

FEBRUARY 13, 2025

HAE is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body, including the skin, gastrointestinal tract and airways. Without proper treatment, HAE attacks can be painful, debilitating and potentially life-threatening, especially if they involve the airway.

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Trials Genetics Allergies Drugs 82

XTalks

JANUARY 6, 2025

Medical device manufacturers are leveraging these technologies to enhance their products, supporting healthcare providers and improving patient outcomes. Additionally, CRISPR genome-wide screening holds great potential for identifying key disease-associated genes and uncovering novel therapeutic targets.

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