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Outcome Measures and Biomarkers Development

An Ambitious Project To Advance Clinical Trial Methodology for Rett Syndrome

In the last decade, researchers have made remarkable progress in the Rett research field, yielding a number of potential drugs and procedures (eg. brain stimulation) with undoubtedly many more to come. For each drug or procedure proposed, doctors must conduct a clinical trial to determine if the drug or procedure is actually effective in reducing Rett symptoms. This rigorous testing, called a clinical trial, can take years and millions of dollars to conduct. One key to conducting efficient and effective trials is the identification and validation of reliable outcome measures and biomarkers.

Outcome Measure – A measurement or assessment used to determine particular aspects of symptoms, function, or health condition of a patient at the beginning of a clinical trial, during and after treatment

Biomarkers – Characteristics that are objectively measured and evaluated as indicators of normal biological processes, abnormal processes, or responses to therapeutic intervention.
A biomarker can become an outcome measure if it is closely associated with how well the body responds to a treatment.

Timothy Benke

Dr. Benke is Associate Professor in the Department of Pediatrics, Neurology and Pharmacology at the University of Colorado School of Medicine. He runs the Rett Syndrome Clinic at Children’s Hospital Colorado.

Alan Percy

Dr. Percy is an authority on Rett Syndrome having seen his first patient with the disorder in 1984. He is a Professor of Neurology at the University of Alabama Birmingham School of Medicine and directs the Sparks Clinics Rett Syndrome Research program.

Daniel Tarquinio

Dr. Tarquinio is a child neurologist and epileptologist who trained with Dr. Percy. After spending several years at the Rett Clinic in Boston he recently started his own Rett clinic at Children’s Healthcare of Atlanta. He is Assistant Professor of Neurology aat Emory University.

Every single conversation with a pharmaceutical company, biotech or investor starts off with the same questions:What would the clinical trial look like and what is the FDA’s view on meaningful symptomatic improvements? These questions starkly highlight the fact that currently there are no FDA approved drugs for Rett Syndrome and there is no consensus on the optimal suite of clinical outcome measures or biomarkers.

Companies want to ensure that if they invest time and money to develop a drug for Rett, that a reliable path to test it appropriately in patients exists.

Many features of Rett syndrome are difficult to quantify accurately. Abnormal gait, stereotypical hand movements, and anxiety are some of the core diagnostic features of Rett, yet no reliable method exists to quantify them. Additionally, seizures are often reported inaccurately; in one study, 62% of electrographic (EEG) seizures were not recognized clinically by parents, and 82% of events identified by parents as “seizures” were not associated with EEG seizure. Moreover, autonomic function and associated features, such as breathing dysregulation, skin temperature changes, and cardiac conduction abnormalities are all of interest but difficult to monitor continuously.

The OMBD Consortium is a prime example of RSRT’s leadership in seeking breakthroughs for therapy of Rett Syndrome.  This project will serve as a landmark effort to define the optimal means of studying investigational drugs in clinical trials for Rett Syndrome and will help all those who are developing drugs in this field.


RSRT Advisor and Biotech Entrepreneur

The OMBD Consortium is designed to be nimble, allowing the pursuit of outcomes that look encouraging while quickly discarding those that don’t. RSRT manages the infrastructure to properly curate this ambitious project including a cutting edge data management system that will make anonymized data available to clinicians, scientists, industry and investors, thereby maximizing its potential use.

Tim Benke, Alan Percy and Daniel Tarquinio, each directors of a Rett Syndrome Clinic, are collaborating on this ambitious project to explore a variety of outcome measures and biomarkers. The scales will be tested on 250 patients while the other tests will be first piloted on a smaller number of patients and then if validated will move to testing in larger number of patients.


Outcome Measures & Biomarker Development

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