pharmaphorum

OCTOBER 16, 2020

In the age of artificial intelligence, no trial data should be going to waste. Findacure’s Rick Thompson looks at how these technologies could bring us closer to treatments for underserved rare diseases. The repurposing of drugs is becoming more common, especially in the field of rare diseases.

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XTalks

OCTOBER 16, 2024

This is Pfizer’s second FDA-approved treatment for a rare genetic blood disorder this year. Related: World Thrombosis Day 2024: Move Against Thrombosis This approval stems from the results of the Phase III BASIS trial, which evaluated the efficacy and safety of Hympavzi in patients with hemophilia A or B.

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XTalks

MAY 26, 2023

The regulatory nod “ushers in a whole new paradigm to treat genetic diseases” and is a major milestone for DEB patients and their families, Krystal Biotech CEO Krish Krishnan said in a statement from the company. Results of the trials are published in the journals Nature Medicine and The New England Journal of Medicine.

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XTalks

FEBRUARY 28, 2022

Related: UK’s NHS Backs World’s Costliest Drug Libmeldy for the Treatment of Rare Disease MLD. Below are some facts and information about rare diseases, including rare disease clinical trials and orphan drugs. How is a Rare Disease Defined? Are Most Rare Diseases Genetic?

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XTalks

FEBRUARY 25, 2025

The FDAs approval was supported by data from the Phase III RESTORE study a 24week, doubleblind, placebocontrolled, randomized crossover withdrawal trial. Administered as an oral tablet at a dosage of 250 mg three times per day, the treatment aims to restore normal bile acid levels and reestablish metabolic equilibrium.

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XTalks

NOVEMBER 27, 2023

Pompe disease primarily manifests as progressive muscle weakness, particularly affecting the skeletal muscles in regions such as the hips, legs, shoulders, arms and diaphragm. Sanofi also offers another ERT for Pompe disease known as Myozyme, which received FDA approval in 2006, and Lumizyme in 2010 for late-onset disease.

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XTalks

AUGUST 29, 2022

CRISPR technology has begun to enter clinical trials due to emerging therapeutic applications, but the technology still has limitations, primarily because it is difficult to safely make large quantities of precisely edited cells.

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XTalks

MAY 12, 2023

What’s been shown in mouse models of Rett syndrome which also have the genetic disease, is that trofinetide helps strengthen those connections between the neurons. So, although it’s not a genetic treatment for Rett syndrome, it does act on the core pathophysiology behind Rett syndrome, which is that synaptic loss.

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pharmaphorum

DECEMBER 8, 2021

Acadia Pharma’s trofinetide has hit its efficacy targets in a phase 3 trial involving girls with the devastating neurological disorder Rett syndrome, although safety has dampened enthusiasm a little. Results from a phase 3 trial of blarcamesine are due next year. At 12 weeks, trofinetide-treated patients had a 5.1-point

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XTalks

SEPTEMBER 27, 2024

In a news release published yesterday, Pfizer announced it will voluntarily withdraw its sickle cell disease (SCD) therapy Oxbryta (voxelotor) from all markets worldwide. The company said it is also discontinuing all active clinical trials for voxelotor and expanded access programs around the world.

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XTalks

JANUARY 3, 2025

XTALKS WEBINAR: Environmental Sustainability and the Supply of Medicines for Clinical Trials Live and On-Demand: Thursday, January 16, 2025, at 10am EST (4pm CET/EU-Central) Register for this free webinar to learn how major pharma companies are working towards environmental sustainability and reducing their environmental impact.

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XTalks

SEPTEMBER 22, 2022

Clinical Trial Behind Spevigo. The efficacy of Spevigo (spesolimab) was determined based on the results of the Effisayil 1 double-blind, randomized, Phase II clinical trial. GPP occurs in individuals with specific gene variations as it is a genetic disease , and variations in the genes IL36RN and AP1S3 are known to cause it.

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XTalks

FEBRUARY 27, 2023

Attendees will learn about the types of assessments and scales that are feasible to conduct remotely in rare disease trials. Attendees will learn about the types of assessments and scales that are feasible to conduct remotely in rare disease trials.

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Delveinsight

FEBRUARY 11, 2021

Verily, Google’s life-science-focused sibling company and Janssen will also seek to tap into the data generated by people during their everyday lives to seek for any previous health-related signals in the two years leading up to the point they consented to participate in the study as well as in the two years after.

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XTalks

SEPTEMBER 24, 2024

Flatt Xtalks Clinical Edge is a magazine for clinical research professionals and all who want to be informed about the latest trends and happenings in clinical trials. This magazine immerses you in a world where industry leaders, patient advocates and top researchers converge to provide the most insightful perspectives on clinical trials.

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XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. The effectiveness of Epidiolex for the treatment of TSC-associated seizures was demonstrated in a randomized, double-blind, placebo-controlled trial.

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XTalks

OCTOBER 8, 2024

Scholar Rock announced positive results from the Phase III SAPPHIRE trial evaluating apitegromab, an investigational muscle-targeted therapy, in patients with spinal muscular atrophy (SMA). SMA is a genetic neuromuscular disease causing progressive muscle weakness and loss of motor function.

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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. Silverback’s lead candidate is currently in a Phase I trial in adults with HER2-expressing solid tumors.

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XTalks

SEPTEMBER 16, 2024

Related: FDA’s New Rare Disease Innovation Hub to Elevate Patient Care The NDA submission was supported by data from the KONFIDENT Phase III clinical trial and ongoing KONFIDENT-S open-label extension trial. In the trials, sebetralstat demonstrated a significant reduction in attack severity and duration compared to placebo.

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XTalks

NOVEMBER 10, 2023

Related: Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio The FDA approval of Adzynma was based on its demonstrated safety and efficacy in a Phase III global cross-over study, the first of its kind for cTTP. Adzynma’s approval is the second for Takeda this week.

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XTalks

SEPTEMBER 25, 2024

Aqneursa’s efficacy was confirmed in a randomized, double-blind, placebo-controlled, two-period crossover trial involving 60 patients aged four years or older. The 24-week study, which included two 12-week treatment phases, measured neurological improvement using fSARA scores.

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XTalks

NOVEMBER 26, 2024

The trial demonstrated a 42 percent reduction in combined cardiovascular death and recurrent hospitalizations at Month 30, with cardiovascular-related hospitalizations reduced by half. BridgeBio has been highly active in the genetic diseases space. Participants were randomized to receive acoramidis or placebo over 30 months.

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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

The drug is currently in clinical trials for alcoholic hepatitis (AH), nonalcoholic steatohepatitis (NASH), as well as in COVID-19 patients with acute liver or kidney injury. Working on finding therapies for genetic diseases at NeuBase, Dr. Sooter says, “Everyday, we get up and that’s our goal and it really drives everyone.

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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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XTalks

FEBRUARY 24, 2025

Carlsbad, California-based Ionis Pharmaceuticals announced it will be sharing promising new trial data for its RNA-targeted prophylactic treatment donidalorsen for hereditary angioedema (HAE) at the 2025 American Academy of Allergy, Asthma & Immunology (AAAAI)/World Allergy Organization (WAO) Joint Congress in San Diego, California.

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XTalks

APRIL 1, 2025

XTALKS WEBINAR: Keys to Success in Clinical Trials: A Strategic Guide for Biotechs and Startups Live and On-Demand: Thursday, May 22, 2025 , at 11am EDT (5pm CEST / EU-Central) Register for this free webinar to learn how biotechs can navigate endpoint challenges in clinical trials and accelerate their path to drug approval.

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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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XTalks

MARCH 19, 2025

Elevidys is the first FDA-approved gene therapy for DMD a rare genetic disorder characterized by progressive muscle degeneration. To date, over 800 patients have received the therapy in clinical trials and real-world settings. Late in 2024, Elevidys was recognized among Times Best Innovations. million.

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XTalks

OCTOBER 7, 2020

A tiny child with a devastating genetic disease who wasn’t supposed to blow out the candles on his first birthday cake. All clinical trials rely on a well-oiled machine of motivated professionals, but nowhere is this more true than in advanced-therapy studies in rare diseases where knowledge is sparse. Collaboration.

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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.” FDA officials said it had not seen such cases in Vertex patients, but would look out for side effects.

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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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XTalks

MARCH 21, 2024

MLD is a rare genetic disease affecting the brain and nervous system caused by a deficiency of the enzyme arylsulfatase A (ARSA), which results in the accumulation of sulfatides (fatty substances) in cells. The transaction has proven fruitful with the milestone US approval of the gene therapy just a few months later.

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XTalks

APRIL 15, 2021

million people in the US, yet there is no treatment for the most common form of the disease: heart failure with preserved ejection fraction (HFpEF). A lack of efficacy is the greatest reason for clinical trial failures, especially in Phase II and Phase III,” says Dr. Tyl. Heart failure affects about 6.2

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pharmaphorum

JANUARY 27, 2023

Developing medicines – for people living with disease Dr Mullen’s current role involves providing medical monitoring support, as well as safety, pharmacovigilance, scientific, and medical advice across a range of client projects, including advanced therapies and orphan drugs. I still feel that it is very important,” Dr Mullen said. “We’ve

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XTalks

SEPTEMBER 12, 2022

Patients in the trial received Xenpozyme or placebo for 52 weeks. In the trials, 75 percent of pediatric patients and 50 percent of adult patients experienced adverse reactions while receiving Xenpozyme that included headaches, nausea and vomiting. Treatment with Xenpozyme improved lung function and also reduced liver and spleen size.

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XTalks

MARCH 3, 2021

BridgeBio is dedicated to developing therapies for genetic diseases with unmet needs. Nulibry Trial Results. The efficacy of Nulibry in the treatment of MoCD Type A was demonstrated in data from three different clinical trials that was compared to data from a natural history study.

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