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Rett Syndrome Clinical Trials in the RSZ TNC Making a Difference

Rett syndrome: a disease of rapid neurodevelopmental decline in females

Rett Syndrome is a rare disease characterized by early and rapid neurological regression that impacts motor, cognitive and communication skills. Autonomic dysfunction is common, impacting regulation of circulation, digestion, breathing rate, and urination. There are 4 stages of the disease: Stage 1 occurs between 6-18 months old where initial normal development is slowed and may become delayed. This is followed by Stage 2, typically between 1-4 years old, where a rapid regression of motor, language, and social development is observed, sometimes presenting as autism-like symptoms. Stage 3 occurs between 2-10 years old and is the longest lasting stage, defined as a plateau, where individuals most prominently present with apraxia, dysmotility, motor problems, and seizures. During this period, patients may make improvements and reach new milestones. Many patients remain in Stage 3 for the majority of their lives. Late motor deterioration is observed in Stage 4, characterized by severely abnormal muscle tone and stiffening of the joints (contractures).

Caused by genetic variants in a gene located on the X chromosome, MECP2, this syndrome occurs in one of every 10,000 births worldwide and affects females more than males. Often difficult to diagnose early due to the mild symptoms of Stage 1 being overlooked, commonly families must demand follow-up appointments and tests to investigate their child’s condition. A diagnosis of Rett syndrome is a life-changing moment for families as they must shift their initial goals and expectations to what the new future may hold for their child. However, with a driven patient-family population and the support of industry, clinical trials have been initiated for a promising treatment for Rett syndrome.

RSZ TNC Collaborations Provide an Optimistic Outlook for Research Participant Family

Within the RSZ TNC, a clinical trial of trofinetide has provided hope and positive results for the Rett syndrome community. Trofinetide is a novel, synthetic analog of IGF-1, which is a growth factor believed to be important for how our brains grow and develop. Early work into the safety and effectiveness of IGF-1 for Rett syndrome was done at Boston Children’s Hospital through our Phase 1 and 2 investigator-initiated IGF-1 studies. Sponsored by Acadia Pharmaceuticals, the DAFFODIL trofinetide clinical trial was performed in conjunction with Boston Children’s Hospital’s Rett Syndrome Program and the RSZ TNC’s coordinating team, consisting of neurologist David Lieberman, MD, PhD, genetic counselor Lindsay Swanson, MS, CGC, and research nurse Grace Bazin, BSN, RN. One family told the story of their journey from seeking a diagnosis for their daughter to treatment via a clinical trial yielding encouraging results to date in older children and young adults with Rett syndrome. Since their enrollment into this RSZ TNC facilitated Rett syndrome clinical trial, the family has felt a refreshing wave of optimism and hopefulness for the future. Praising the study team for their availability, support, and care, the family advocates one of the most important resources for rare disease care is to surround yourself with a supportive team. Within the RSZ TNC, it is our goal to not only accelerate translational research, but to provide a comprehensive support system for the patients and families that participate in our studies.

Check out the full story at Boston Children’s Hospital >

Boston Children Hospital’s Rett Research page >

Acadia’s preliminary results of Trofinetide in Rett Syndrome >