XTalks

MAY 26, 2023

DEB patients are also at an increased risk of aggressive skin cancer.DEB usually presents at birth and is caused by one or more mutations in the COL7A1 gene, which encodes type VII collagen (COL7), an important protein that helps connect, strengthen and stabilize the outer and middle layers of the skin.

Gene Therapy 97

Gene Therapy Gene FDA Approval Dermatology 97

pharmaphorum

SEPTEMBER 6, 2021

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU) on hold while it investigates a safety signal. “We are committed to understand and mitigate any risk of cancer causation.”

Gene Therapy 94

Gene Therapy Gene Genetic Disease DNA 94

pharmaphorum

AUGUST 1, 2022

Sarepta reported updated clinical trial results with the one-shot therapy in July which bolstered the data for SRP-9001 (delandistrogene moxeparvovec) for efficacy and durability, but also raised a concern about its safety after a serious case of myocarditis was seen in one of 38 patients enrolled in its ENDEAVOR study.

Gene Therapy 105

Gene Therapy Gene Genetics Trials 105

XTalks

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. The disease is caused by mutations on the TSC1 and TSC2 genes, which produce the proteins hamartin and tuberin, respectively.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

pharmaphorum

JANUARY 10, 2022

The company has also stated, at the same time as the study was announced, that it will look at developing mRNA technology in oncology and genetic diseases. At present, the biotech has 10 vaccine candidates at various stages of the preclinical and discovery phase, focused across three different areas of infectious diseases.

RNA 111

RNA Vaccine Vaccination Pharma Companies 111

The Pharma Data

OCTOBER 14, 2020

Premature stop codons are point mutations that disrupt protein synthesis from messenger RNA. As a consequence, patients with premature stop codon diseases have reduced or eliminated protein production from the mutation bearing allele accounting for some of the most severe phenotypes in these genetic diseases.

Protein 52

Protein RNA Production Genetics 52

XTalks

DECEMBER 13, 2023

The disease occurs due to a point mutation in the hemoglobin beta globin ( HBB ) gene that codes for one of the proteins that make up hemoglobin, the oxygen carrier in red blood cells. Data on the long-term effects of the therapies is limited, as trials evaluating the therapies were only two years long.

Gene Therapy 98

Gene Therapy Gene FDA Approval In-Vivo 98

XTalks

MAY 12, 2023

The MeCP2 protein plays a crucial role in regulating the activity of genes involved in brain development. 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. Daybue, also called trofinetide, is a tripeptide.

FDA Approval 97

FDA Approval Genetics Trials Drugs 97

XTalks

SEPTEMBER 16, 2024

HAE is caused by a deficiency or dysfunction of the C1-inhibitor, a protein involved in regulating inflammation. HAE affects approximately one in 50,000 people globally, and there is currently no cure for the disease. In the trials, sebetralstat demonstrated a significant reduction in attack severity and duration compared to placebo.

Protein 52

Protein Genetics Trials Allergies 52

The Pharma Data

NOVEMBER 8, 2020

The New Drug Application (NDA) for the drug is based on data from four Phase III trials in pediatric patient populations from the age of 6 to 17 years, two Phase II trials, several Phase I trials, a long-term open label extension study, preclinical testing, and drug manufacturing data. This is under Priority Review.

Trials 52

Trials Protein Gene Genetic Disease 52

pharmaphorum

JANUARY 10, 2022

CRISPR drugs can be used to modify the expression of disease-associated proteins in the body, for example, by correcting a mutation in a specific gene.

In-Vivo 52

In-Vivo Gene Editing Gene Therapy Gene 52

The Pharma Data

JANUARY 9, 2021

This is the first statistical evidence demonstrating ABR superiority in a gene therapy trial. People living with hemophilia A lack sufficient functioning Factor VIII protein to help their blood clot and are at risk for painful and/or potentially life-threatening bleeds from even modest injuries. GENEr8-1 Study Description.

Gene Therapy 52

Gene Therapy Gene Trials Clinical Trials 52

The Pharma Data

JULY 6, 2021

Haemophilia A is a serious, inherited bleeding disorder in which a person’s blood doesn’t clot properly, as they either lack or do not have enough of a clotting protein called factor VIII. 1 These results confirm the favourable safety profile of Hemlibra, as previously demonstrated in the phase III HAVEN clinical trials.

Gene Therapy 52

Gene Therapy Gene Clinical Trials Clinical Trials 52

The Pharma Data

DECEMBER 8, 2020

The ImmunoTAC platform pairs proprietary payloads that modulate key disease modifying pathways with monoclonal antibodies directed at specific disease sites. Silverback’s lead candidate is currently in a Phase I trial in adults with HER2-expressing solid tumors. Nuance Pharma .

RNA 52

RNA Antibody Life Science Protein 52

XTalks

SEPTEMBER 25, 2024

Miplyffa primarily slows disease progression using a different mechanism of action, targeting heat shock protein responses to assist cells under stress. Aqneursa’s efficacy was confirmed in a randomized, double-blind, placebo-controlled, two-period crossover trial involving 60 patients aged four years or older.

FDA Approval 52

FDA Approval Drugs Protein Gene 52

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

DECEMBER 22, 2021

RNA, and its protein-generating form messenger RNA (mRNA) discovered in 1961 , has quickly transitioned from being an obscure, finicky molecule that is difficult to work with, to becoming a significant cornerstone of therapeutic innovation in pharma and biotech. The RNA Revolution: From mRNA Vaccines to RNA Editing. The deal is worth $1.5

Life Science 98

Life Science RNA Vaccine Vaccination 98

The Pharma Data

OCTOBER 27, 2020

Foghorn is anticipating filing an IND later this year for its lead candidate to begin a Phase I trial for the treatment of uveal melanoma, a cancer of the eye. . AavantiBio’s strategic partnership with University of Florida’s Powell Gene Therapy Center provide their foundational research in rare genetic disorders. Be Biopharma .

Gene 52

Gene Gene Therapy Medicine Development 52

The Pharma Data

DECEMBER 20, 2020

The submission included data from two positive pivotal Phase III trials. CF is a rare, life-shortening genetic disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. It is caused by a defective and/or missing CFTR protein caused by mutations in the CFTR gene.

In-Vitro 52

In-Vitro FDA Approval Drugs Manufacturing 52

The Pharma Data

NOVEMBER 24, 2020

PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. Professor and Chief, Pediatric Nephrology and Hypertension, Jack and Lucy Clark Department of Pediatrics, Mount Sinai Kravis Children’s Hospital, New York City and Investigator on the ILLUMINATE-A trial. Saland, M.D.,

FDA Approval 52

FDA Approval Production RNA Medicine 52

The Pharma Data

OCTOBER 28, 2020

The interim analysis did not include data from other exploratory outcome measures such as seizure frequency, sleep diaries, EEG patterns, UBE3A protein levels in the CSF, ambulation by wearable device, and adaptive behaviors. This condition is typically not inherited but instead occurs spontaneously. About Ultragenyx.

Protein 40

Protein Production Development Drugs 40

XTalks

DECEMBER 13, 2023

The company’s sustained investment in R&D has led to a rapid expansion of its pipeline in 2023, with notable milestones such as four infectious disease vaccines in Phase III trials, including the recently submitted respiratory syncytial virus (RSV) vaccine for regulatory approval. million and $38.8 million and $33.9

Genetics 111

Genetics Vaccine Vaccination DNA 111

Delveinsight

JANUARY 12, 2021

Birinapant is a clinical-stage SMAC mimetic that degrades Inhibitors of Apoptosis Proteins (IAPs) by binding to them, ultimately leading to cell death in tumor cells. million after Birinapant successfully becomes a part of the Phase I trials. The duo will jointly develop the therapy, conducting clinical trials globally.

Licensing 52

Licensing Licensing Antibody Gene Therapy 52

The Pharma Data

DECEMBER 3, 2020

Clinical Trials. STK-001 is an investigational new medicine for the treatment of Dravet syndrome currently being evaluated in a Phase 1/2a clinical trial. protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological Na V 1.1 –( BUSINESS WIRE )– Stoke Therapeutics , Inc.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

pharmaphorum

OCTOBER 4, 2020

A few weeks ago, Bluebird reported new data from the phase 2/3 STARBEAM trial of Lenti-D which showed that 87% of CALD patients were still alive and free of major functional disabilities after at least two years’ follow-up. Around 40% of patients develop the cerebral form of ALD, which in turn affects around one in 17,000 live births.

Gene Therapy 98

Gene Therapy Gene Genetic Disease Protein 98

The Pharma Data

AUGUST 3, 2021

Food and Drug Administration (FDA) has determined that OAV-101 intrathecal (IT) clinical trials for spinal muscular atrophy (SMA) patients may proceed, thereby lifting the partial clinical trial hold initiated in October 2019. Novartis today announced that the U.S. SVP, Chief Medical Officer, Novartis Gene Therapies. “We

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Gene 52

The Pharma Data

MARCH 16, 2021

inhibitor belzutifan (pronounced bell-ZOO-ti-fan), a novel investigational candidate in Merck’s oncology pipeline, for the potential treatment of patients with von Hippel-Lindau (VHL) disease-associated renal cell carcinoma (RCC), not requiring immediate surgery. in patients with VHL disease-associated RCC. About Belzutifan.

Drugs 52

Drugs Trials Genetics Protein 52

XTalks

FEBRUARY 27, 2023

Alpha-mannosidosis is an extremely rare genetic metabolic disease affecting approximately one in 500,000 people. The lysosomal storage disorder is caused by mutations in the MAN2B1 gene, which codes for lysosomal alpha-mannosidase, an enzyme that degrades glycoproteins (proteins attached to sugar residues).

FDA Approval 52

FDA Approval Life Science Containment Genetics 52

The Pharma Data

DECEMBER 27, 2020

Even with the holidays among us, there were a number of clinical trial announcements. Vir Biotechnology and GlaxoSmithKline dosed the first patient in a new sub-trial of a Phase III study of monoclonal antibody VIR-7831 for hospitalized adults with COVID-19. It reduced the risk of disease progression or death by 78%.

Trials 52

Trials Antibody Gene Therapy Gene 52

XTalks

JANUARY 3, 2025

Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism. The approval of Tryngolza was based on positive results from the Phase III Balance trial, which showed reductions in triglyceride levels and acute pancreatitis events. In the Balance study, patients who received the drug showed a 42.5

FDA Approval 59

FDA Approval Drugs Clinical Trials Clinical Trials 59

The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

DNA 52

DNA Scientist Genetic Disease Research 52

The Pharma Data

SEPTEMBER 22, 2020

Trial design and other details are being evaluated and a comprehensive update on the overall Novartis SMA clinical development program will be provided at a future time following further discussions with health authorities. This guidance provides clarity on the path to registration for AVXS-101 IT.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 52

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.

Trials 52

Trials Antibody Genetics Medicine 52

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.

Trials 82

Trials Genetics Allergies Drugs 82

XTalks

JANUARY 6, 2025

RNA-Based Therapeutics RNA molecules have emerged as promising therapeutic agents due to their ability to precisely target undruggable proteins or molecules, often with minimal side effects. Additionally, CRISPR genome-wide screening holds great potential for identifying key disease-associated genes and uncovering novel therapeutic targets.

Gene Therapy 111

Gene Therapy RNA Gene Editing Gene 111

XTalks

FEBRUARY 13, 2025

XTALKS WEBINAR: Bridging Borders: Strategies for Successful Cross-Border Participation in Global Rare Disease Clinical Trials Live and On-Demand: Friday, February 28, 2025 , at 10:30am EST (4:30pm CET / EU-Central) Register for this free webinar to gain insights and strategies for success in rare disease clinical trials without boundaries.

FDA Approval 59

FDA Approval Genetics Clinical Trials Clinical Trials 59