COMBINEDBrain and Duke University team up to receive a prestigious FDA grant
The STXBP1 Foundation is excited to share news that Duke University and COMBINEDBrain have received an FDA grant for a tool to measure communication ability, called the Observer-Reported Communication Ability (ORCA) measure.
STXBP1 is one of the first members of COMBINEDBrain to use the ORCA scale. Communication challenges have been consistently identified by our families as a top concern. The ORCA scale would potentially allow us to more accurately describe the baseline communication skills of our children, and ultimately allow us to measure potential changes in communication during clinical trials.
The ORCA scale is being used on an exploratory basis in the STXBP1 4-phenylbutyrate clinical trial now underway at Weill-Cornell. Now, this grant will allow for the ORCA scale to be assessed and validated for multiple conditions including STXBP1.
Read on for the press release:
COMBINEDBrain and Duke University team up to receive a prestigious FDA grant
Expansion of communication endpoint to multiple disorders
May 21, 2021
COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders) and Duke University School of Medicine are pleased to announce they have been awarded an FDA Patient-Focused Drug Development Grant. This collaborative study will evaluate the use of a newly developed outcome measure of communication ability, the Observer-Reported Communication Ability (ORCA) measure, in many of the rare genetic neurodevelopmental disorders which participate in COMBINEDBrain.
Developed by Duke University under the leadership of Drs. Christina Zigler and Bryce Reeve, the ORCA measure was originally designed to assess communication abilities for people with Angelman syndrome, measuring receptive, expressive, and pragmatic forms of communication. The ORCA measure is completed by the caregiver and is intended for use as a measure of treatment efficacy in clinical trials. Participating organizations within COMBINEDBrain represent neurodevelopmental disorders that share many of the same characteristics and challenges seen with Angelman syndrome. All of them are working hard to help move life-changing treatments into clinical trials for severely disabling conditions, but it can be difficult to measure a treatment effect, especially in children who cannot speak.
COMBINEDBrain has identified what matters most to families of people with rare cognitive disorders. “We want life-changing treatments to succeed in clinical trials and be approved by the FDA,” said Dr. Terry Jo Bichell, the Founder and Director of COMBINEDBrain, and the parent of an adult son with Angelman syndrome, “We studied the major impacts of each COMBINEDBrain disorder on families, and found that improvement in communication abilities is a top priority for many of them, but it is hard to find good measures for children who cannot speak. The ORCA asks families directly about their child’s communication skills, so if there is a positive change, we will be able to detect it. We are excited to work with the expert Duke team to study the applicability of the ORCA measure in disorders beyond Angelman syndrome. This type of patient-centered outcome measure is exactly what the FDA is looking for to test new treatments for severe conditions.”
When considering collaborations, the team from Duke University led by Drs. Reeve and Zigler found the perfect partnership in COMBINEDBrain. Dr. Zigler said, “We couldn’t think of a better partnership—by linking our expertise in measurement with the incredible infrastructure of COMBINEDBrain, we are able to collaborate with multiple patient advocacy organizations who are all focused on developing treatments for rare diseases. Together, we are confident that we can expand the relevance and value of the ORCA measure to a broad range of neurodevelopmental disorders, and ultimately allow communication ability to be included as an important, patient-focused outcome in upcoming clinical trials.”
Charlene Son Rigby is president and co-founder of the STXBP1 Foundation, which will begin to implement the ORCA as soon as possible in foundation-supported clinical trials and natural history studies. “Communication has been consistently a paramount concern from our parents,” said Ms. Rigby, parent of a daughter with STXBP1 Disorder. “Many of our STXBP1 patients are largely non-verbal, so being able to identify a baseline and measure improvements in all types of communication is very important to our community as we move forward in therapy development. We value this partnership with Duke and COMBINEDBrain, and are looking forward to this important work of validating and utilizing the ORCA measure.”
Mike Graglia is the founder and managing director of the SynGAP Research Fund (SRF), and the father of a son with SYNGAP1-Related Intellectual Disorder. SRF is one of the founding member organizations of COMBINEDBrain. Upon hearing the news of the award, Mike said, "The ORCA is especially important to the SYNGAP community. Just like the Angelman syndrome patients for whom it was first developed, SYNGAP patients have a broad spectrum of symptoms, and we desperately need a validated scale that can be used in clinical trials.” He continued, “COMBINEDBrain is a valuable partner for SRF. By identifying and engaging with compelling opportunities for the members—such as this work with Duke—they facilitate our goal of making therapies a reality in a time frame that matters to our loved ones."
COMBINEDBrain is a consortium of 25 non-profit foundations, led by patient advocates, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent. The mission of COMBINEDBrain is to speed the path to treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies and data.
To learn more about the ORCA measure, click here
To learn more about the project to expand the ORCA measure, click here
To learn more about COMBINEDBrain, click here
Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders
Members of COMBINEDBrain:
The Yellow Brick Road Project
NR2F1 Foundation
Foundation for Hao-Fountain Syndrome
GRIN2B Foundation
Champ1 Research Foundation
KIF1A.ORG
SATB2 Gene Foundation
Project Alive
FamiliesSCN2A Foundation
CureSHANK
SLC6A1 Connect
STXBP1 Foundation
Project 8p
SETBP1 Society
SynGAP Research Fund
Glut1 Deficiency Foundation
Malan Syndrome Foundation
PBD Project
FOXG1 Research Foundation
CureGRIN Foundation
CACNA1A Foundation
Schinzel-Giedion Syndrome Foundation
Wishes for Elliott
Global Foundation for Peroxisomal Disorders