Rett Syndrome News

June 15, 2022June 15, 2022

Treatment With MeCP2 Protein Extends Lifespan in Rett Mice

Rett Syndrome News

Treatment with a modified version of the MeCP2 protein, one designed to better get into cells, markedly extended lifespans in a mouse model of Rett syndrome, a study reports. The ... Read more

June 10, 2022June 10, 2022

NORD’s ‘Living Rare, Living Stronger’ Patient, Family Forum Set for June 26

COVID-19 News, Rett Syndrome News

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in ... Read more

June 8, 2022June 8, 2022

2022 Kavli Prize in Neuroscience Awarded to Rett Gene Discoverer

Rett Syndrome News

Huda Zoghbi, MD, the neurologist who discovered the MECP2 gene that causes most Rett syndrome cases, has been awarded the 2022 Kavli Prize in the field of neuroscience. Her discovery of the ... Read more

June 1, 2022June 1, 2022

Cannabidivarin Safe, Reduces Seizures in Five Rett Patients: Study

Rett Syndrome News

Cannabidivarin (CBDV) treatment was well tolerated and reduced the monthly frequency of seizures in five children with Rett syndrome, according to data from a Phase 1 trial. “In our small ... Read more

May 25, 2022May 25, 2022

Non-toxic NGN-401 Gene Therapy Lets Rett Mice Live Longer

Rett Syndrome News

NGN-401, a new gene therapy in the pipeline from Neurogene, extended the lifespan and reduced the disease burden in mice with a form of Rett syndrome, the company announced. Researchers ... Read more

May 11, 2022May 11, 2022

A Few Cells With Defective MECP2 Can Cause Symptoms, Study Suggests

Rett Syndrome News

Females with classic Rett syndrome have an inactivation of the paternally-inherited X chromosome — which most often contains disease-causing mutations in the MECP2 gene — in their cells, a study ... Read more

May 4, 2022May 4, 2022

Rare Pediatric, Orphan Drug Status Granted to DepYmed’s Rett Therapy

Rett Syndrome News

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and orphan drug designations to DepYmed’s orally available small molecule PTP1B-inhibitor therapy being developed to treat Rett syndrome. ... Read more

May 2, 2022May 2, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Rett Syndrome News

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

April 27, 2022April 27, 2022

New Study Highlights Barriers to Dental Care for Rett Patients

Rett Syndrome News

Several barriers to dental care — notably a lack of understanding by clinicians and long waitlists — were reported by caregivers in a recent study as making it more difficult ... Read more

April 21, 2022April 21, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Rett Syndrome News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more

April 20, 2022April 20, 2022

Klinefelter Syndrome Boys Show Rett Symptoms More Than Believed

Rett Syndrome News

Boys with Klinefelter syndrome, a genetic condition caused by an extra X chromosome, more frequently show Rett syndrome-like symptoms than previously recognized, according to a large-scale chromosomal study in boys ... Read more

April 13, 2022April 13, 2022

Telehealth Added to Latest Digital-friendly NORD State Report Card

COVID-19 News, Rett Syndrome News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues ... Read more

April 6, 2022April 6, 2022

Taysha Launches Clinical Program to Test TSHA-102 Gene Therapy

Rett Syndrome News

Taysha Gene Therapies has launched the clinical development of TSHA-102, an investigational gene therapy for Rett syndrome. The move follows the recent approval of a clinical trial application (CTA) by ... Read more

March 30, 2022March 30, 2022

Research in Rett in US Supported by 2022 Federal Funding Bill

Rett Syndrome News

The International Rett Syndrome Foundation (IRSF) has seen its federal funding efforts rewarded in the U.S. as a bill — passed in early March for the 2022 fiscal year and ... Read more

March 25, 2022March 25, 2022

Activating Brain Receptors in Mice Reverses Rett Learning Deficits

Rett Syndrome News

Activating the mGlu2 and mGlu3 receptors in the brain reversed learning deficits in a Rett syndrome mouse model, a study reported. The levels of both of these receptors were significantly ... Read more