Genetic Disease, Protein, Regulation and Trials

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

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. Verifying the biomarker’s clinical validity for use as a surrogate endpoint in rare disease research is another hurdle which is generally a longer-term goal.

Trials

Trials Gene Hormones Clinical Trials

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. “We are committed to understand and mitigate any risk of cancer causation.”

Gene Therapy

Gene Therapy Gene Genetic Disease DNA

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. “In

FDA Approval

FDA Approval Gene Clinical Trials 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

Merck Receives Priority Review From FDA for New Drug Application for HIF-2? Inhibitor Belzutifan (MK-6482)

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

Drugs Trials Genetics Protein

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

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

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. We did see a couple of side effects.

FDA Approval

FDA Approval Genetics Trials Drugs

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

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

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

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

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

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

Protein Production Development Drugs

Advances in neuroscience drug discovery

Drug Discovery World

FEBRUARY 22, 2024

For example, it can take up to it three years to recruit enough participants for a dementia clinical trial. years it takes to complete an entire cancer clinical trial. The organisation also notes that only 1% of the people that can take part in dementia clinical trials actually do so. This compares to the 2.3

Drugs

Drugs Gene Clinical Trials Clinical Trials

Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program

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

Clinical Development Gene Therapy Development Gene

Clinical Research Informer

Research reveals therapeutic potential of mRNA in rare diseases

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

Trending Sources

FDA slaps clinical hold on BioMarin’s PKU gene therapy

First therapy for very rare blood clotting disorder gets US greenlight

GW Pharmaceuticals’ Epidiolex Receives Approval for Second Rare Disease Indication

Merck Receives Priority Review From FDA for New Drug Application for HIF-2? Inhibitor Belzutifan (MK-6482)

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

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

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

The future outlook for mRNA therapies

The era of precision neuroscience

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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