Tay–Sachs disease

Taysha Gene Therapies Partners with Invitae to Enable Rapid Access to Genetic Testing and Earlier Diagnosis of Patients with CNS Disease for Rare and Large-Market Indications

Retrieved on:

Tuesday, October 6, 2020

Biotechnology, Other Health, Health, Genetics, Pharmaceutical, Rare diseases, Lipid storage disorders, Branches of biology, Clinical medicine, Health, Lysosomal storage disease, GM2 gangliosidoses, Sandhoff disease, Tay–Sachs disease, Gangliosidosis, GM 2 gangliosidosis, GM2-gangliosidosis, AB variant, Taysha Gene Therapies, Invitae

The Detect LSDs program enables the rapid diagnosis of lysosomal storage disorders (LSDs), including GM2 gangliosidosis (also known as Tay-Sachs and Sandhoff disease).

Key Points:

The Detect LSDs program enables the rapid diagnosis of lysosomal storage disorders (LSDs), including GM2 gangliosidosis (also known as Tay-Sachs and Sandhoff disease).
Through both initiatives, we are supporting the rapid identification of patients with debilitating diseases, allowing them to gain access to earlier therapeutic interventions.
When a patient presents with seizures, genetic testing may help identify more than 100 underlying, often rare conditions.
We are proud to support these initiatives to help patients gain timely access to natural history studies, clinical trials, and ultimately disease-modifying therapies.

Axovant to Participate in Upcoming October Conferences and Provide AXO-Lenti-PD Program Update the Morning of October 6th

Retrieved on:

Monday, October 5, 2020

Branches of biology, Lipid storage disorders, Rare diseases, Health, Articles, Neurodegenerative disorders, RTT, GM2 gangliosidoses, Medical genetics, Sandhoff disease, Tay–Sachs disease, Gangliosidosis

A live webcast of the presentations will be available in the Events section of Axovant's website at www.axovant.com .Replays will be available for approximately 30 days following the conferences.

Key Points:

A live webcast of the presentations will be available in the Events section of Axovant's website at www.axovant.com .Replays will be available for approximately 30 days following the conferences.
Axovant Gene Therapies is a clinical-stage gene therapy company focused on developing a pipeline of innovative product candidates for debilitating neurodegenerative diseases.
Our current pipeline of gene therapy candidates target GM1 gangliosidosis, GM2 gangliosidosis (also known as Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.
Axovant is focused on accelerating product candidates into and through clinical trials with a team of experts in gene therapy development and through external partnerships with leading gene therapy organizations.

Victor Center for the Prevention of Jewish Genetic Diseases Now Serving New York, New Jersey and Maryland

Retrieved on:

Tuesday, September 22, 2020

Branches of biology, Health, Clinical medicine, Medical genetics, Rare diseases, Medical genetics of Jews, Race and health, Lipid storage disorders, Tay–Sachs disease, Genetic counseling, Familial dysautonomia, Genetic disorder

MIAMI, Sept. 22, 2020 /PRNewswire/ -- The Victor Center for the Prevention of Jewish Genetic Diseases, which offers preconception screening and genetic counseling for prospective parents, has recently expanded services to offer genetic screening and virtual clinical consults to couples and individuals in New York, New Jersey and Maryland.

Key Points:

MIAMI, Sept. 22, 2020 /PRNewswire/ -- The Victor Center for the Prevention of Jewish Genetic Diseases, which offers preconception screening and genetic counseling for prospective parents, has recently expanded services to offer genetic screening and virtual clinical consults to couples and individuals in New York, New Jersey and Maryland.
Jewish genetic diseases are a group of recessive, inherited disorders that occur with significant frequency in the Ashkenazi Jewish community (those of eastern or central European descent).
Individuals of Ashkenazi descent have higher carrier rates for diseases such as Tay-Sachs, Canavan, familial dysautonomia, and Gaucher.
Ms. Victor lost two children to a Jewish genetic disease before a test for the disorder became available.

Axovant Announces First Parkinson's Disease Gene Therapy R&D Day and Participation in Upcoming September Conferences"

Retrieved on:

Tuesday, September 8, 2020

A live webcast of the presentations will be available in the Events section of Axovant's website at www.axovant.com .

Key Points:

A live webcast of the presentations will be available in the Events section of Axovant's website at www.axovant.com .
Axovant Gene Therapies is a clinical-stage gene therapy company focused on developing a pipeline of innovative product candidates for debilitating neurodegenerative diseases.
Our current pipeline of gene therapy candidates target GM1 gangliosidosis, GM2 gangliosidosis (also known as Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.
Axovant is focused on accelerating product candidates into and through clinical trials with a team of experts in gene therapy development and through external partnerships with leading gene therapy organizations.

Taysha Gene Therapies Receives Orphan Drug Designation and Rare Pediatric Disease Designation for TSHA-101 for GM2 Gangliosidosis

Retrieved on:

Thursday, August 27, 2020

Taysha Gene Therapies , a patient-centric gene therapy company with a mission to eradicate monogenic CNS diseases, today announced that it has received Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration (FDA) for TSHA-101, an AAV9-based gene therapy in development for GM2 Gangliosidosis.

Key Points:

Taysha Gene Therapies , a patient-centric gene therapy company with a mission to eradicate monogenic CNS diseases, today announced that it has received Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration (FDA) for TSHA-101, an AAV9-based gene therapy in development for GM2 Gangliosidosis.
Receiving both Orphan Drug Designation and Rare Pediatric Disease Designation by the FDA speaks to the strength of the translational data package supporting TSHA-101 for GM2 Gangliosidosis, said RA Session II, President, CEO and Founder of Taysha.
Furthermore, these designations also highlight the FDAs recognition that GM2 Gangliosidosis is a devastating rare disease, and we believe this is an important milestone for the GM2 Gangliosidosis community.
GM2 Gangliosidosis, also known as Tay-Sachs disease and Sandhoff disease, is a rare, neurodegenerative disease that causes progressive dysfunction of the central nervous system.

New Study Shows Screening Based on Self-Reported Ethnicity Fails to Identify Significant Percentage of Pregnancies Affected by Serious Genetic Conditions

Retrieved on:

Monday, August 10, 2020

Medicine, Medical tests, Medical terminology, Prevention, Health, Clinical medicine, Screening, Genetic disorder, Medical genetics, Tay–Sachs disease, Prevention of Tay–Sachs disease

Results showed that only 23 percent of carriers would have been identified through ethnicity-based screening protocols supported by societal guidelines.

Key Points:

Results showed that only 23 percent of carriers would have been identified through ethnicity-based screening protocols supported by societal guidelines.
Combined, these factors point to the need for more efficient and equitable carrier screening for a comprehensive list of genetic disorders.
In the past decade, the evolution of carrier screening methodology has enabled scalable screening of many serious single-gene diseases simultaneously, termed expanded carrier screening (ECS).
Carrier screening identifies pregnancies at increased risk of serious genetic conditions that may reduce lifespan, result in intellectual disability or that would benefit from prenatal or perinatal intervention.

Axovant Completes Enrollment of Low-Dose Cohort in Phase 1/2 Study of AXO-AAV-GM1 and Expands Study to Include Type I (Infantile Onset) Patients with GM1 Gangliosidosis

Retrieved on:

Monday, June 8, 2020

Lipid storage disorders, Rare diseases, Branches of biology, Health, Medicine, GM2 gangliosidoses, Sandhoff disease, GM1 gangliosidoses, Gangliosidosis, Tay–Sachs disease, GM1, GM2

Currently, the study is on track to report 6-month data (n=5) from the low-dose cohort of the AXO-AAV-GM1 clinical trial by Q4 2020.

Key Points:

Currently, the study is on track to report 6-month data (n=5) from the low-dose cohort of the AXO-AAV-GM1 clinical trial by Q4 2020.
The Company expects to initiate dosing in the high-dose cohort, which will include both Type I and Type II patients, in the second half of 2020.
With an expanded study protocol that now includes infantile-onset patients, AXO-AAV-GM1 is the only gene therapy in development to include both Type I and Type II GM1 patients, populations of children who suffer from a deficiency in the same enzyme, -galactosidase.
Our current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.

Axovant Announces Upcoming Presentations at the Annual Meeting of the American Society of Gene and Cell Therapy

Retrieved on:

Thursday, May 7, 2020

Lipid storage disorders, Branches of biology, Rare diseases, Health, Articles, Axovant Sciences, GM2 gangliosidoses, Sandhoff disease, Gangliosidosis, Tay–Sachs disease, Therapy, Gene therapy

NEW YORK and BASEL, Switzerland, May 07, 2020 (GLOBE NEWSWIRE) -- Axovant Gene Therapies Ltd. (NASDAQ: AXGT), a clinical-stage company developing innovative gene therapies for neurological diseases, today announced upcoming presentations regarding its investigational gene therapy programs, AXO-Lenti-PD and AXO-AAV-GM2 at the 23rd Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT), held virtually on May 12th to May 15th, 2020.

Key Points:

NEW YORK and BASEL, Switzerland, May 07, 2020 (GLOBE NEWSWIRE) -- Axovant Gene Therapies Ltd. (NASDAQ: AXGT), a clinical-stage company developing innovative gene therapies for neurological diseases, today announced upcoming presentations regarding its investigational gene therapy programs, AXO-Lenti-PD and AXO-AAV-GM2 at the 23rd Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT), held virtually on May 12th to May 15th, 2020.
Our current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.
Axovant is focused on accelerating product candidates into and through clinical trials with a team of experts in gene therapy development and through external partnerships with leading gene therapy organizations.
Axovant undertakes no obligation to publicly update or revise any forward-looking statement, whether as a result of new information, future events or otherwise.

Axovant Announces Partnership with Invitae to Increase Access to Genetic Testing and Accelerate Diagnoses of GM1 and GM2 Gangliosidosis

Retrieved on:

Wednesday, April 15, 2020

Lipid storage disorders, Rare diseases, Branches of biology, Medicine, Health, GM2 gangliosidoses, Sandhoff disease, Gangliosidosis, Tay–Sachs disease, Genetic counseling, GM1, Genetic testing

Invitae offers genetic testing and counseling at no charge to patients suspected of having an LSD.

Key Points:

Invitae offers genetic testing and counseling at no charge to patients suspected of having an LSD.
LSDs are progressive, multi-system, inherited metabolic diseases associated with premature death, and genetic testing is a crucial first step to arriving at a diagnosis.
Genetic testing can expedite an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research for LSDs such as GM1 and GM2 gangliosidosis, said Robert Nussbaum, M.D., chief medical officer of Invitae.
Our current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.

Axovant Gene Therapies Announces Closing of $74.7 Million Public Offering of Common Shares and Prefunded Warrants, Including Full Exercise of Underwriters’ Option to Purchase Additional Shares

Retrieved on:

Monday, February 24, 2020

Lipid storage disorders, Rare diseases, Health, Medicine, Clinical medicine, Sandhoff disease, GM2 gangliosidoses, Gangliosidosis, Warrant, Tay–Sachs disease, Axovant Sciences

NEW YORK and BASEL, Switzerland, Feb. 24, 2020 (GLOBE NEWSWIRE) -- Axovant Gene Therapies Ltd. (Nasdaq: AXGT) ("Axovant") today announced the closing of its previously announced underwritten public offering of 16,631,336 common shares, including the full exercise of the underwriters option to purchase 2,600,000 additional common shares, at a price to the public of$3.75per share.

Key Points:

NEW YORK and BASEL, Switzerland, Feb. 24, 2020 (GLOBE NEWSWIRE) -- Axovant Gene Therapies Ltd. (Nasdaq: AXGT) ("Axovant") today announced the closing of its previously announced underwritten public offering of 16,631,336 common shares, including the full exercise of the underwriters option to purchase 2,600,000 additional common shares, at a price to the public of$3.75per share.
In addition, and in lieu of common shares, Axovant sold to a certain investor pre-funded warrants to purchase 3,301,998 common shares at a purchase price of $3.74999 per pre-funded warrant, which represents the per share public offering price for the common shares, minus the $0.00001 per share exercise price of each such pre-funded warrant.
The aggregate gross proceeds to Axovant from the offering wereapproximately $74.7 million before deducting underwriting discounts and commissions and offering expenses.
The company's current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff disease), and Parkinsons disease.