Caregivers Asked to Help in Adapting Tool ‘Critical’ to Therapy Trials

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by Forest Ray PhD |

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ORCA communications tool

The nonprofit Rett Syndrome Research Trust (RSRT) and Duke University’s Center for Health Measurement are asking Rett syndrome caregivers to help with a study aiming to adapt and validate a tool that could allow researchers to better understand patient responses to therapies being testing in clinical trials.

The tool — called Observer Reported Communications Ability (ORCA) — is a comprehensive questionnaire to assess a person’s communication ability and changes over time. It was developed for Angelman syndrome, a neurodevelopmental disorder with similar “communication challenges,” and has been used “by more than 10 biopharma companies working on therapeutics for Angelman,” the RSRT stated in a press release.

Patients’ communication abilities and their changes are measured in the ORCA questionnaire through their caregiver’s perspective, via 84 questions covering 22 different communication behaviors. Behaviors include the use of gestures, vocalizations or other sounds, and/or assistive technology.

“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,” Monica Coenraads, CEO of the RSRT, said in the release.

Children with Rett syndrome typically begin to lose their verbal language skills between the ages of 1 and 4, and no comprehensive tool to assess communication among those with Rett currently exists.


“Communication is one of the most important symptoms of the disorder that families would like to see improved,” Coenraads added.

Duke University initially developed ORCA with funding from the Foundation for Angelman Syndrome Therapeutics.

Now, with RSRT support, Duke researchers aim to modify ORCA in accordance with U.S. Food and Drug Administration (FDA) standards, so that it might be used in trials of potential Rett therapies.

“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,” said Jana von Hehn, PhD, the RSRT program lead for ORCA development.

Investigators estimate 270 families affected by Rett syndrome are needed for this study in order to meet FDA requirements. Those interested are invited to complete this form to be put in touch with the team at Duke. Participants are currently sought from English-speaking countries, including the U.S., Canada, the U.K., and Australia.

“If you are a parent, or primary caregiver, of someone with Rett Syndrome who speaks fluent English, we ask that you accept our call to action and join the effort to achieve this critically important goal,” the RSRT stated.

“We hope that once the measure is validated for Rett Syndrome,” von Hehn added, “it will be quickly incorporated into clinical studies and become an FDA-approved measurement tool to assess Rett therapeutics.”