Tweetorial: Improving Clinician Awareness of #RettSyndrome and Optimizing Management of Care Across the Patient Lifespan
Tweetorial: Improving Clinician Awareness of #RettSyndrome and Optimizing Management of Care Across the Patient Lifespan is organized by CME Institute of Physicians Postgraduate Press, Inc. (PPP).
Activity opens: 01/26/2023
Activity expires: 01/31/2024
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.
Overview:
Because of the multiple comorbidities and symptoms associated with Rett syndrome, clinicians are advised to implement a multidisciplinary approach to disease management with an eye toward new and emerging therapies on the horizon.
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.
Learning Objective:
After completing this educational activity, you should be able to:
• Incorporate up-to-date clinical care guidelines in providing care for patients with Rett Syndrome (RTT)