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Improving Clinician Awareness of Rett Syndrome and Optimizing Management of Care Across the Patient Lifespan
DISCLAIMER: As of March 10, 2023, trofinetide, as discussed in this program, has been approved by the FDA for the treatment of Rett syndrome.
Program Introduction
Because of the multiple comorbidities associated with Rett syndrome, clinicians are advised to incorporate clinical guidelines that suggest implementing therapeutics with a multidisciplinary approach and with an eye toward new and emerging therapies.
Learning Objectives
After completing this educational activity, you should be able to:
- Select treatment for symptoms of comorbidities in patients with Rett Syndrome (RTT)
- Incorporate up-to-date clinical care guidelines in providing care for patients with Rett Syndrome (RTT)
- Communicate with caregivers about new and emerging agents to treat Rett Syndrome (RTT)
Target Audience
Staff at IRSF Center of Excellence, Neurologists, APPs/NPs/PAs Neurology, Pediatric Neurologists, and Pediatricians
Program Description
Rett syndrome (RTT) is a neurodevelopmental disorder that mostly affects girls and involves a substantial number of comorbidities such as seizure disorders, behavioral alterations, sleep disorders, breathing irregularities, prolonged QT interval, gastrointestinal dysfunction, and bone fractures. Because of these disease attributes, care from neurologists, psychiatrists, sleep medicine specialists, respiratory therapists, cardiologists, gastroenterologists, orthopedists, and physical therapists is required. Patients with RTT live on average to age 50, and because of the complexity of multiple comorbidities and symptoms, consensus guidelines recommend a multidisciplinary symptomatic approach to treatment that includes caregivers to achieve a better quality of life (QoL) for this patient population and their families.
RTT is often caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which is located on the X chromosome and encodes the methyl-CpG binding protein 2 (MeCP2). MeCP2 is required for normal neural development, and this information has affected the development of gene intervention therapy, which has been tested successfully in mice models and is now moving into the human clinical trials arena. In addition to this promising news, two medications have received FDA fast track designation, with one of them also receiving orphan drug designation for RTT. Trofinetide is a novel synthetic analog of the amino‐terminal tripeptide of insulin-like growth factor-1 (IGF-1) designed to treat the core symptoms of RTT by reducing neuroinflammation and supporting synaptic function. Trofinetide saw top-line results from a phase 3 trial with statistically significant improvement over placebo for both co-primary endpoints, leading to orphan drug designation. Blarcamesine (ANAVEX-273) activates the sigma-1 receptor (Sig1R), which helps restore homeostasis and increases neuroplasticity. It received fast track designation by the FDA after meeting primary and secondary endpoints in a phase 3 trial.
Managing symptoms in RTT involves management of multiple comorbidities well as supporting the needs of caregivers for optimal QoL care in patients. New drugs and therapies are on the horizon, offering hope for patients diagnosed with this incurable and lifelong disorder.
Part of the series: Rett Syndrome: Improving Clinician Awareness and Optimizing Management of Care Across the Patient Lifespan
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Support Statement
Supported by an educational grant from Acadia Pharmaceuticals Inc.
Learning Objective
After completing this educational activity, you should be able to:
- Select treatment for symptoms of comorbidities in patients with Rett Syndrome (RTT)
- Incorporate up-to-date clinical care guidelines in providing care for patients with Rett Syndrome (RTT)
- Communicate with caregivers about new and emerging agents to treat Rett Syndrome (RTT)
Release, Review, and Expiration Dates
This CME activity was published in January 2023 and is eligible for AMA PRA Category 1 Credit™ through January 31, 2024.
Statement of Need and Purpose
Rett syndrome (RTT) is a rare, progressive, neurodevelopmental disorder that primarily affects girls. No cure exists for RTT, and extensive supportive care is necessary. Because of the complex medical comorbidities associated with RTT, caregivers and healthcare providers are met with many challenges in caring for individuals with the disorder. Clinicians need a comprehensive education on the different factors that go into play when treating individuals with RTT, including the following: how comorbidities affect individuals with RTT; implementing therapeutic treatments and a multidisciplinary approach to managing the disorder; and incorporating new clinical care guidelines to improve patient quality of life. Treatment is more difficult as individuals with RTT grow older since symptoms worsen with age. Emerging agents may offer new hope to help patients attain a better quality of life.
Unlabeled and Investigational Usage
The faculty of this educational activity may include discussions of products or devices that are not currently labeled for use by the FDA. Faculty members have been advised to disclose to the audience any reference to an unlabeled or investigational use.
No endorsement of unapproved products or uses is made or implied by coverage of these products or uses.
Please refer to the official prescribing information for each product for discussion of approved indicators, contraindications and warnings.
Review Process
The faculty members agreed to provide a balanced and evidence-based presentation and discussed the topics and CME objectives during the planning sessions. The faculty’s submitted content was validated by CME Institute staff, and the activity was evaluated for accuracy, use of evidence, and fair balance by the Chair and a peer reviewer who is without conflict of interest.
The opinions expressed herein are those of the faculty and do not necessarily reflect the opinions of the CME provider and publisher or the commercial supporter
© Copyright 2023 Physicians Postgraduate Press, Inc.
Faculty Affiliation
Alan Percy, MD
University of Alabama at Birmingham – Children’s Hospital of Alabama
Birmingham, AL
Jane Lane, RN, BSN
University of Alabama at Birmingham – Pediatric Neurology
Birmingham, AL
Amitha Ananth, MD
University of Alabama at Birmingham – Children’s Hospital of Alabama
Birmingham, AL
Financial Disclosure
The CME Institute adheres to the Standards for Integrity and Independence in Accredited Continuing Education of the Accreditation Council for Continuing Medical Education (ACCME). Any individuals in a position to control the content of a continuing education activity, including faculty, content developers, reviewers, staff, and others, are required to disclose to learners the presence or absence of any relevant financial relationships with an ACCME-defined ineligible company within the preceding 24 months of the activity. The ACCME defines an “ineligible company” as one whose primary business is producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients.
The CME Institute has mitigated all relevant conflicts of interest prior to the commencement of the activity. None of the individuals involved in the content have relevant financial relationships with ineligible companies except the following:
Dr Percy has served as a consultant for Acadia Pharmaceuticals.
Dr Ananth has received research support from Acadia Pharmaceuticals and Anavex Life Sciences.
Mrs. Lane has no disclosures.
Michael R. Page, PharmD, RPh
Independent Medical Director/Medical Writer
Plainsboro, New Jersey
Dr. Page is a consultant for BioCentric, Inc. and American Medical Communications, Inc.
None of the other planners, reviewers, and CME Institute staff for this educational activity have relevant financial relationships with ineligible companies to disclose. All relevant financial relationships have been mitigated.
Accreditation Statement
The CME Institute of Physicians Postgraduate Press, Inc., is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
Credit Designation
The CME Institute of Physicians Postgraduate Press, Inc., designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Note: The American Nurses Credentialing Center (ANCC) and the American Academy of Physician Assistants (AAPA) accept certificates of participation for educational activities certified for AMA PRA Category 1 Credit™ from organizations accredited by the ACCME.
To obtain credit for this activity, study the material and complete the CME Posttest and Evaluation.
Available Credit
- 1.00 AMA PRA Category 1 Credit™
- 1.00 Participation