Gene, Genetic Disease, Protein and Regulation

Turning science into business: Amplifying mRNA by targeting regRNAs

Drug Discovery World

APRIL 17, 2024

DDW’s Diana Spencer speaks to Josh Mandel-Brehm , CEO of Massachusetts-based biotech CAMP4, to understand the role regulatory RNAs play in gene expression and how the founders overcame the challenge of launching a business based on brand new science. What are the advantages compared to other gene modulating approaches?

Gene Expression

Gene Expression Gene Genetic Disease RNA

FDA slaps clinical hold on BioMarin’s PKU gene therapy

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.

Gene Therapy

Gene Therapy Gene Genetic Disease DNA

Research reveals therapeutic potential of mRNA in rare diseases

Drug Discovery World

JANUARY 11, 2024

Argininosuccinic aciduria is an inherited metabolic disorder that affects how the body breaks down protein – potentially leading to high levels of ammonia in the blood. Patients affected by the disease are found to also experience an imbalance of glutathione regulation, which is important for liver detoxification.

Research

Research Gene Therapy RNA Gene

First therapy for very rare blood clotting disorder gets US greenlight

Drug Discovery World

NOVEMBER 14, 2023

Takeda’s Adzynma has become the first recombinant protein product approved in the US for prophylactic or on-demand enzyme replacement therapy (ERT) for congenital thrombotic thrombocytopenic purpura (cTTP). For prophylactic ERT, Adyznma is administered to help reduce the risk of disease symptoms.

FDA Approval

FDA Approval Gene Clinical Trials Clinical Trials

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

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

FDA Approval Gene Therapy Gene Clinical Trials

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

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

FDA Approval Protein Containment Genetic Disease

After Daybue’s Approval: Acadia Pharmaceuticals’ Next Steps for the Rett Syndrome Community

XTalks

MAY 12, 2023

Caused by mutations in the MECP2 gene located on the X chromosome, Rett syndrome is primarily an X-linked disorder; however, there have been rare cases of boys being affected, usually with more severe symptoms due to the absence of a second X chromosome. Dr. Bishop: Rett syndrome is a genetic disorder caused by a mutation in the MECP2 gene.

FDA Approval

FDA Approval Genetics Trials Drugs

Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial

XTalks

SEPTEMBER 17, 2020

In rare disease trials, it’s not always feasible to choose clinically-relevant endpoints to measure the efficacy of a new therapeutic. Inherited mutations in the SLC3A1 and SLC7A9 genes cause cystine to be abnormally transported within the kidney leading to cystinuria.

Trials

Trials Gene Hormones Clinical Trials

New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

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

DNA Scientist Genetic Disease Research

The future outlook for mRNA therapies

Drug Discovery World

APRIL 30, 2024

Its job is to carry coding information that is essential to the translation and processing of functional proteins. This is essential to its use as a therapeutic agent and gives the technology a vast versatility making it suitable to treating a wide range of diseases – especially those that have high protein expression.

RNA

RNA Protein Vaccination Vaccine

Epigenetic Editing with CRISPR Might Be Easier Than We Thought

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells through epigenetic editing without altering the genetic sequence itself. It’s a great tool for controlling gene expression.”.

DNA

DNA Gene Gene Silencing Genome

The era of precision neuroscience

Drug Discovery World

MARCH 6, 2024

Guiding neurological drug discovery and development to success The 20 years since the Human Genome Project has seen transformational advances in the molecular understanding of cancers and rare genetic diseases, leading to genetically informed, personalised selection of therapies and massively improved outcomes for many patients.

Genome

Genome Genomics Clinical Trials Clinical Trials

Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells without editing the genetic sequence itself. These modifications regulate gene expression without altering the sequence or structure of DNA.

DNA

DNA Gene Gene Silencing Genome

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

The Pharma Data

AUGUST 3, 2021

SVP, Chief Medical Officer, Novartis Gene Therapies. “We Additionally, STEER will add to the clinical data and emerging real-world evidence for the use of gene therapy to treat SMA. This route of administration has the potential to open up access for older patients to all the benefits of gene therapy.

Clinical Trials

Clinical Trials Clinical Trials Gene Therapy Trials

GeneTx and Ultragenyx Announce Positive Interim Phase 1/2 Data on Investigational GTX-102 Demonstrating Improvement in Patients with Angelman Syndrome

The Pharma Data

OCTOBER 28, 2020

Five patients between the ages of 5 and 15 with deletions in the maternal UBE3A gene region were enrolled in the first three cohorts and are included in the interim data analysis. Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene.

Protein

Protein Production Development Drugs

Advances in neuroscience drug discovery

Drug Discovery World

FEBRUARY 22, 2024

For diseases as serious and debilitating for patients and their families as leukodystrophies, learning about such advances in knowledge carries a great deal of hope, which IRCM warmly welcomes,” adds Dr Jean-François Côté, the IRCM’s President and Scientific Director.

Drugs

Drugs Gene Clinical Trials Clinical Trials

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

The Pharma Data

SEPTEMBER 22, 2020

Novartis Gene Therapies to initiate new pivotal confirmatory study to evaluate use of AVXS-101 intrathecal (I T ) formulation in older patients with SMA to further support registration. Novartis Gene Therapies remains confident in the overall benefit-risk profile for patients on treatment.

Clinical Development

Clinical Development Gene Therapy Development Gene

Clinical Research Informer

Turning science into business: Amplifying mRNA by targeting regRNAs

FDA slaps clinical hold on BioMarin’s PKU gene therapy

Trending Sources

Research reveals therapeutic potential of mRNA in rare diseases

First therapy for very rare blood clotting disorder gets US greenlight

Adzynma Wins FDA Approval as First Treatment for Ultra-Rare Blood Clotting Disorder cTTP

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

After Daybue’s Approval: Acadia Pharmaceuticals’ Next Steps for the Rett Syndrome Community

Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial

New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

The future outlook for mRNA therapies

Epigenetic Editing with CRISPR Might Be Easier Than We Thought

The era of precision neuroscience

Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

Novartis announces lift of partial clinical trial hold and plans to initiate a new, pivotal Phase 3 study of intrathecal OAV-101 in older patients with SMA

GeneTx and Ultragenyx Announce Positive Interim Phase 1/2 Data on Investigational GTX-102 Demonstrating Improvement in Patients with Angelman Syndrome

Advances in neuroscience drug discovery

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

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