Pediatrics & Rare Disease

In pediatrics and in rare neurodevelopmental disorders, detecting even the smallest change in behavior or function is critical, and often challenging. Adopting strategic trial designs and targeted assessment selection or development improves your ability to make informed decisions about your drug development efforts.

Cogstate has a group of neuroscience experts specifically with pediatric and rare disease training that you can leverage to improve signal detection, increase trial efficiencies, and be more confident about your data. Learn how our endpoint data quality programs and digital cognitive tests can assist your team.


Improve Strategic Study Design and Execution 

Rare diseases are characterized by a wide range of severity, clinical presentation, and rate of progression, making strategic study design and execution important for conclusive trial results. Our science team can help you evaluate appropriate assessments for the functioning level of the population and that have adequate sensitivity to detect change over time.

We can also collaborate to develop new endpoints that match the concerns of your patient populations and better support drug development decisions.

Rare Disease Indications We’ve Supported Include:  

Angelman’s Syndrome, Autism Spectrum Disorder, CDKL5 Deficiency Disorder, Down Syndrome, Epilepsy, Epileptic Encephalopathies, Fragile X Syndrome, Hemophilia, Kabuki Syndrome, Mucopolysaccharidosis (MPS) Disorders, Pediatric Oncology, Rett Syndrome, Sickle Cell Disease, and a wide range of additional rare genetic disorders.

Implement Robust Endpoint Data Quality Programs 

In rare disease trials, often the assessments are complex and eligible participants limited. With numerous and geographically dispersed trial sites, inter-rater variability can compromise data quality. As such, high-quality rater training and data monitoring programs are essential.

Cogstate supports all aspects of endpoint data quality programs (rater training, central monitoring, etc.) with proven methodologies and leading technologies that drive endpoint reliability. Studies also benefit from our global network of 180 highly trained expert clinicians who provide assessment support in 40+ languages.

We have extensive experience with assessments commonly used in rare disease trials: ABC, ADOS, Bayley-III, BASC-3, BRIEF, CVLT, CGI, Mullen, RBANS, SB-5, VABS-II/VABS-3, WPPSI-IV and WASI-II, and dozens more.

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Leverage Sensitive and Reliable Digital Tests

Cogstate digital assessments provide rapid and reliable measurement of distinct domains and enable you to capture a complete and nuanced picture of a subject’s cognitive state.

Cogstate tests are culture- and education-neutral and designed for repeated administration with minimal practice or learning effects, making them ideal for use in global clinical trials. Normative data is available for both clinical samples and healthy controls. Study teams can choose the tests that best suit their research questions. Each test has been used in drug trials.

The Cogstate pediatric safety battery has been designed specifically for administration to children, with child-friendly instructions and stimuli being presented throughout.

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Sample Pediatric Safety Battery 

The tests included are a sample for a pediatric safety battery. Final battery recommendations vary based on study needs.

Cogstate Tests:Pediatric Detection Test
Pediatric Identification Test
Pediatric One Card Learning Test
Modified Groton Maze Learning Test
Length:Approx. 15 minutes
Data Processing and Scoring:Automated
Application:Phase I
Culture and Language Neutral:Yes

Case Studies of Rare Disease Solutions in Action

Programmatic Rater Training in Rare Disease Increased Efficiencies and Maintained Quality

Cogstate worked with a sponsor team to develop rater training across a program with multiple rare disease trials. Raters were trained and then given the opportunity to participate across four trials all leveraging the same scale. This led to tremendous efficiencies for the sponsor, as nearly half of the raters participated in two or more studies, reducing the individual training burden by 25%. In addition, only 7% of scale administrations had errors that required follow-up, showing the programmatic approach to training provided reliable data capture. (Ventola, et al, NORD, 2021)

Central Raters Increased Efficiency and Optimized Data Quality

The Vineland-3 is a widely used measure of adaptive functioning in rare disease clinical trials. In one program of clinical trials, 53 site raters administered the assessment; in another program of clinical trials, 7 central raters administered the assessment. An analysis of these results showed the use of central raters offered greater efficiency and optimized data quality by decreasing rater variance, while also reducing the burden on sites. (Ventola, et al, ECRD, 2022)

  • The team of 7 central raters conducted 150 administrations (~21 per person) compared to the 53 site raters who conducted 138 administrations (~2.5 per person).
  • 0 of the administrations completed by the central raters had significant errors, compared to the site raters which had 4 administrations with errors that compromised the validity of the assessment. 

How can we help you optimize the measurement of brain health?

Contact Our Team