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Press Release

Rett Syndrome Research Trust Announces Development of the ORCA Measure to Assess Communication Ability of Individuals with Rett Syndrome

Media Contact
Monica Coenraads
Chief Executive Officer
Rett Syndrome Research Trust
June 16, 2021

The Rett Syndrome Research Trust has partnered with Duke University’s Center for Health Measurement to adapt and validate a first-of-its kind caregiver-reported communications measurement tool for Rett Syndrome. The “Observer Reported Communications Ability” Measure, known as ORCA, would play a major role in evaluating Rett Syndrome therapeutics in clinical studies by assessing one of the most important symptoms of the disorder.

​​​​“Most individuals with Rett Syndrome have great difficulties communicating, so parents and caregivers are often at a loss in understanding their loved one’s needs and wants,” said Monica Coenraads, Chief Executive Officer of the Rett Syndrome Research Trust (RSRT).

Communication is one of the most important symptoms of the disorder that families would like to see improved. We are very excited to work with Dr. Bryce Reeve and his team of experienced psychometricians at Duke, tapping into their expertise at creating and validating new questionnaires to bring this important initiative to the Rett community,” added Coenraads.

Currently, there is no comprehensive tool to assess communication among individuals with Rett Syndrome. With funding from RSRT, Duke researchers will conduct a study, according to FDA standards, to evaluate ORCA and modify it so that it can be used in clinical trials of Rett Syndrome therapeutics. The tool was created to measure communication abilities in individuals living with Angelman Syndrome, another neurodevelopmental disorder with communication challenges similar to Rett Syndrome.

The Foundation for Angelman Syndrome Therapeutics (FAST) recruited the Duke team and funded the development of this novel outcome measure based on the clear clinical need for robust measurement of expressive, receptive and pragmatic communication abilities in individuals living with Angelman Syndrome. ORCA is already being used by more than 10 biopharma companies working on therapeutics for Angelman Syndrome.

Dr. Allyson Berent, the Chief Science Officer for FAST, said, “The collaborative effort between FAST, the Angelman Syndrome community, and the amazing team at Duke, worked tirelessly to develop this instrument with tremendous care and precision, which has truly met the need to measure communication abilities in individuals who traditionally cannot be accurately assessed with other measures. We are so thrilled to see it used for other neurodevelopmental disorders and being adapted to the specific needs of their community. This is what rare disease is all about, leveraging the learnings from others to benefit each other.”

“The timing is significant” said Jana von Hehn, PhD, Sr. Director of Research and Clinical Strategy and RSRT’s program lead for the ORCA development. “After years of RSRT’s pursuit of curative therapeutic approaches, multiple clinical trials that attack the root cause of Rett Syndrome are on the horizon and the ORCA provides the ability to measure a key symptom that if improved, could significantly enhance the quality of life of Rett Syndrome individuals and their families.”

The ORCA measure is a very detailed questionnaire designed to assess a person’s communication ability from the perspective of their caregiver, and to reveal changes over time.

ORCA has 84 questions representing 22 different communication behaviors. A child can score high or low on the tool whether they use gestures, vocalizations or other sounds, and/or assistive technology.

“We are thrilled that our work on the ORCA and its development for Angelman Syndrome has given us the opportunity to make similar advances in the field of Rett Syndrome,” said Dr. Reeve, Principal Investigator of the study and director of the Center for Health Measurement. “At first glance, the ORCA tool seems like an excellent fit for the breadth of communication abilities observed in Rett Syndrome, and we are excited to fully evaluate it and customize it to ensure it encompasses anything unique to Rett,” said Dr. Reeve.

“We hope that once the measure is validated for Rett Syndrome, it will be quickly incorporated into clinical studies and become an FDA-approved measurement tool to assess Rett therapeutics,” said Dr. von Hehn. “This is another example of how RSRT is leading the effort to achieve a cure with a comprehensive, full-on attack on Rett, which includes targeted therapeutic discovery and proof of concept programs, as well as biomarker discovery efforts and symptom assessment tool development.”

Scientists estimate that the Rett ORCA study will need to enroll 270 Rett Syndrome families in order to satisfy the requirements for FDA validation. This initial effort will recruit families from English speaking countries including the USA, Canada, United Kingdom and Australia. If you are a parent or primary caregiver of someone with Rett Syndrome and you speak fluent English, we ask that you accept our call to action and join the effort to achieve this critically important goal. Complete this form and join other members of our Rett community to be put in touch with the Duke team for study participation.

About the Rett Syndrome Research Trust

The Rett Syndrome Research Trust (RSRT) is a nonprofit organization with a highly personal and urgent mission: achieving a cure for Rett Syndrome and related disorders caused by defects in the MECP2 gene. The RSRT funds and spearheads global scientific and clinical activities advancing the most promising curative approaches. To date, every biopharma pursuing a cure for Rett Syndrome is doing so because they leveraged discoveries and resources incubated with RSRT funding. To learn more, please visit

About Rett Syndrome
Rett Syndrome is a genetic neurodevelopmental disorder that predominately affects girls. Its symptoms strike typically between 12 to 18 months of age. The disorder is caused by random mutations in the MECP2 gene on the X chromosome. Rett Syndrome is devastating, as it deprives young children of speech, hand use, and normal movement, leaving many individuals without the ability to walk or communicate. Symptoms can also include stress and anxiety, seizures, tremors, breathing difficulties, scoliosis, and severe gastrointestinal issues. Although most children survive into adulthood, every aspect of their daily living requires support. The impact on families and the health care system for specialists, corrective surgeries, therapies, and long-term care is significant.