Archives     Advertise     Editorial Calendar      Advertiser Index     Subscribe     Contact Us    


Potential Rett Syndrome Drug Shows Promising Results in Phase 3 Trial


 
Jeffrey Neul, MD, PhD

A potential first-of-its-kind drug to treat the symptoms of Rett syndrome received positive top-line results from a phase 3 trial sponsored by Acadia Pharmaceuticals Inc. and led by investigators from Vanderbilt University Medical Center to evaluate efficacy and safety.

Rett syndrome, which impacts 6,000 to 9,000 U.S. patients and occurs in approximately 1 of every 10,000 to 15,000 female births worldwide, is a rare, debilitating neurological disorder that occurs primarily in females following apparently normal development for the first six months of life. It is often misdiagnosed as autism, cerebral palsy or non-specific developmental delay.

Currently, there are no FDA-approved medicines for the treatment of Rett syndrome.

The LavenderTM study was a phase 3, 12-week, double-blind, randomized, placebo-controlled study of the drug trofinetide in 187 young females, ages 5 to 20, with Rett syndrome.

Trofinetide met co-primary efficacy endpoints demonstrating statistically significant improvement over placebo in the Rett Syndrome Behaviour Questionnaire, a caregiver assessment of the core symptoms of Rett syndrome, and the Clinical Global Impression of Improvement, a physician assessment of illness improvement or worsening relative to baseline.

It also met its key secondary endpoint, demonstrating a statistically significant separation over placebo in the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist-Social composite score.

"These are encouraging results for patients and families affected by Rett syndrome," said Lavender study investigator Jeffrey Neul, MD, PhD, Annette Schaffer Eskind Professor and director of the Vanderbilt Kennedy Center. "Patients reported improvements in core symptoms, like being able to respond to a choice when asked by their parents, or experiencing more freedom from the repetitive hand movements that create obstacles in other areas of their lives.

"A potential treatment for Rett syndrome is an important step forward in addressing this rare and serious neurological disease," said Neul, also a professor in the departments of Pediatrics, Neurology, Pharmacology and Special Education at Vanderbilt University Medical Center.

Rett syndrome, caused by mutations on the X chromosome gene MECP2, has symptoms typically presenting between 6 to 18 months of age including loss of purposeful hand use (fine motor skills), repetitive hand movements, absent or impaired mobility (gross motor skills), loss of communication skills (including eye contact) and inability to independently conduct activities of daily living.

Symptoms also include seizures, disorganized breathing patterns, an abnormal side-to-side curvature of the spine (scoliosis) and sleep disturbances.

"The symptoms of Rett syndrome impact all aspects of an individual's daily life and take a profound emotional toll on families," said Cary Fu, MD, assistant professor of Pediatrics in the Division of Pediatric Neurology at Monroe Carell Jr. Children's Hospital at Vanderbilt. "I am encouraged by the trial results and hopeful that we will finally have an effective means of modifying the core symptoms and improving quality of life for families with Rett syndrome."

The most common adverse events were diarrhea (80.6% with trofinetide vs. 19.1% with placebo), of which 97.3% in the trofinetide arm were characterized as mild-to-moderate, and vomiting (26.9% with trofinetide vs. 9.6% with placebo), of which 96% in the trofinetide arm were characterized as mild-to-moderate.

Serious adverse events were observed in 3.2% of study participants in both the trofinetide and placebo groups. Patients completing the Lavender study had the opportunity to continue to receive trofinetide in the open-label Lilac and Lilac-2 extension studies. More than 95% of participants who completed the Lavender study elected to roll-over to the Lilac open-label extension study.

The study results will be submitted for presentation at upcoming medical meetings.

Share:

 

Email Print

 

More Grand Rounds:

 

Ardent Appoints Lisa Dolan Chief Nursing Officer

Ardent Health Services, a leading provider of healthcare in communities across the country, has appointed veteran nursing leader Lisa Dolan, MSN, RN, NEA-BC, chief nursing officer.

Read More

HCA HEALTHCARE PURCHASES MD NOW URGENT CARE WITH ITS 59 LOCATIONS IN FLORIDA

HCA Healthcare, Inc. (NYSE: HCA), one of the nation's leading healthcare providers, announced it has purchased MD Now Urgent Care, a network of 59 urgent care centers in Florida.

Read More

HCA HEALTHCARE APPOINTS FRANK MORGAN VICE PRESIDENT OF INVESTOR RELATIONS

HCA Healthcare, Inc. (NYSE: HCA), one of the nation's leading healthcare providers, announced Frank Morgan will become vice president of investor relations, effective January 1, 2022.

Read More

South College Nashville Physician Assistant master's program celebrates first graduation

South College Nashville Physician Assistant master's program celebrates first graduation

The inaugural class of the South College Master of Health Science in Physician Assistant Studies program officially graduated on Dec. 18, and several students earned academic and service honors.

Read More

Tennessee Oncology Appoints Dr. Stephen Schleicher as Chief Medical Officer and Promotes Dr. Natalie Dickson to President and Chief Strategy Officer

Tennessee Oncology Appoints Dr. Stephen Schleicher as Chief Medical Officer and Promotes Dr. Natalie Dickson to President and Chief Strategy Officer

Tennessee Oncology, one of the largest providers of oncology care in the country, announced that Stephen Schleicher, MD, MBA has been appointed Chief Medical Officer (CMO) effective January 1, 2022.

Read More

LifePoint Health Completes Kindred Healthcare Transaction

The transaction further establishes LifePoint as a leading diversified healthcare delivery network committed to high quality community healthcare with operations across the healthcare continuum

Read More

AMERICAN HEALTH PARTNERS HONORS ITS HEALTHCARE HEROES

AMERICAN HEALTH PARTNERS HONORS ITS HEALTHCARE HEROES

Top Performers from Seven Divisions Gather for the Fourth Annual Star Awards Event

Read More

Potential Rett Syndrome Drug Shows Promising Results in Phase 3 Trial

Potential Rett Syndrome Drug Shows Promising Results in Phase 3 Trial

A potential first-of-its-kind drug to treat the symptoms of Rett syndrome received positive top-line results from a phase 3 trial sponsored by Acadia Pharmaceuticals Inc. and led by investigators from Vanderbilt University Medical Center to evaluate efficacy and safety.

Read More

Red Cross: Donors needed now to address historically low blood supply

Red Cross: Donors needed now to address historically low blood supply

Limited-edition long-sleeved T-shirts for those who come to give around holidays

Read More

Data Shows Increase in Autism Spectrum Disorder Prevalence

Vanderbilt Kennedy Center (VKC) researchers, as part of the Centers for Disease Control and Prevention (CDC) Autism and Developmental Disabilities Monitoring (ADDM) network, report an increase in the number of children in Tennessee with autism spectrum disorder (ASD).

Read More

Ascend Federal Credit Union Donates $14,568 to Leukemia & Lymphoma Society

Ascend Federal Credit Union announced it has donated $10,000 to the Tennessee Chapter of the Leukemia & Lymphoma Society (LLS) to support Light the Night.

Read More

Mid-South PICC merges with Nashville-based LifelineV

Collierville-based Mid-South PICC, LLC today announced it has merged with LifelineV, formerly known as Lee Medical.

Read More

HCA HEALTHCARE STRENGTHENS PARTNERSHIP WITH MARCH OF DIMES TO HELP GIVE ALL MOMS AND BABIES A HEALTHIER TOMORROW

Strategic partnership to focus on improving maternal outcomes

Read More

TRISTAR SUMMIT MEDICAL CENTER ANNOUNCES  VITO CAPOTORTO, MD, AS NEW CHIEF MEDICAL OFFICER

TRISTAR SUMMIT MEDICAL CENTER ANNOUNCES VITO CAPOTORTO, MD, AS NEW CHIEF MEDICAL OFFICER

Vito A. Capotorto, MD, has been appointed chief medical officer (CMO) of TriStar Summit Medical Center in Hermitage, Tenn.

Read More

Gene Discoveries Give New Hope to People Who Stutter

More than 2.5 million Americans have a chronic condition arising in early childhood that can negatively impact their education, job performance and employability well into adulthood.

Read More

Alive Adds Three Board Members

Community Leaders Join Board of Middle Tennessee's Only Nonprofit Hospice

Read More

Patient Experience awards honor service excellence

Patient Experience awards honor service excellence

Vanderbilt University Medical Center is recognizing 485 clinicians and 132 clinical areas for receiving high marks from patients, earning Excellence in Patient Experience awards for fiscal year 2021.

Read More

HCA HEALTHCARE ANNOUNCES PLANS TO BUILD THREE HOSPITALS IN FLORIDA

HCA Healthcare, Inc. (NYSE: HCA), one of the nation's leading healthcare providers, announced plans to build three new acute care hospitals in Florida to help meet the state's growing need for healthcare services.

Read More

Bone and Joint Institute of Tennessee Opens Orthopaedic Urgent Care and Rehabilitation Facility in Brentwood

Bone and Joint Institute of Tennessee announced the opening of an orthopaedic urgent care and rehabilitation facility in Brentwood, located in Marketplace at Maryland Farms at 101 Creekside Crossing, Suite 1100.

Read More

CALDOLOR® NOW FDA APPROVED FOR PRE-OPERATIVE ADMINISTRATION

CALDOLOR® NOW FDA APPROVED FOR PRE-OPERATIVE ADMINISTRATION

Dosed prior to surgery, Caldolor® demonstrated significant reduction in pain intensity

Read More

 
 


Tags:
None
Powered by Bondware
News Publishing Software

The browser you are using is outdated!

You may not be getting all you can out of your browsing experience
and may be open to security risks!

Consider upgrading to the latest version of your browser or choose on below: