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. Currently available treatments focus on managing symptoms and preventing attacks.

Protein 52

Protein Genetics Trials Allergies 52

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. Dietary changes, including restriction of salt and animal protein, are also recommended. Prednisone and PTC Therapeutics’ Emflaza (deflazacort) can help slow the progression of the disease.

Trials 98

Trials Gene Hormones Clinical Trials 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.

FDA Approval 97

FDA Approval Genetics Trials Drugs 97

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

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

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 52

DNA Gene Gene Silencing Genomics 52

The Pharma Data

SEPTEMBER 22, 2020

About Zolgensma ® ( onasemnogene abeparvovec ) Zolgensma ® is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene to halt disease progression through sustained SMN protein expression with a single, one-time IV infusion.

Clinical Development 52

Clinical Development Gene Therapy Development Gene 52

The Pharma Data

AUGUST 3, 2021

SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Gene 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

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