Rare Disease

Cognitive and behavioral endpoint selection and management for clinical trials

Collecting high quality data with subjects who are heterogeneous and often cognitively impaired necessitates strategic trial design and targeted assessment selection.

Even small changes in behavior or function are critical and need to be detected in rare disease clinical trials, particularly given the small sample sizes inherent within these studies.

Leveraging Cogstate scientific experts, data quality programs, and digital cognitive tests, research teams are able to improve signal detection, increase trial efficiencies, and make important study decisions in their clinical trials of rare disease.

Talk with our team about your study

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 yielding conclusive trial results. In particular, selecting the appropriate scales is vital and their correct administration throughout the trial is paramount.

Cogstate’s science team supports all stages of trial design and execution, from protocol development to interactions with regulatory agencies.

We help you evaluate appropriate assessments for the functioning level of the population and those with sensitivity and specificity to detect change over time.

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

We support the development of accurate Statistical Analysis Plans to appropriately interpret often-complex results.

Optimize Clinical Outcomes for Greater Signal Detection

Cogstate’s team of scientific and operational experts can help advise your team on efficient and effective study conduct in rare disease trials. Working with our team gives you access to robust data quality programs and reliable computerized assessments.

Implement Robust 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. Not to mention, many sites are highly specialized, and raters are participating in several similar trials simultaneously. As such, high-quality rater training and data monitoring programs are essential. Cogstate supports all aspects of data quality programs with proven methodologies and leading technologies that drive endpoint reliability.
Leverage Sensitive and Reliable Computerized Batteries
Cogstate’s computerized batteries of highly sensitive tests provide rapid and reliable measurement of distinct cognitive domains affected by rare diseases. The tests are grouped into customizable batteries for 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.

Extensive Experience with Assessments Commonly Used in Rare Disease Trials

  • Aberrant Behavior Checklist (ABC)
  • Autism Diagnostic Observational Schedule (ADOS)
  • Bayley Scales of Infant Development, Third Edition (Bayley-III)
  • Behavior Assessment System for Children (BASC-3)
  • Behavioral Rating Inventory of Executive Function Scales (BRIEF)
  • California Verbal Learning Test (CVLT)
  • Clinical Global Impressions Scale (CGI)
  • Columbia Suicide Severity Rating Scale (C-SSRS)
  • Mullen Scales of Early Learning (Mullen)
  • Repeatable Battery for the Assessment of Neuropsychological Status (RBANS)
  • Stanford-Binet Intelligence Scales, Fifth Edition (SB-5)
  • Vineland Adaptive Behavior Scales (VABS-II/VABS-3)
  • Weschler Scales (WPPSI-IV and WASI-II)
  • And dozens more

Indications we’ve supported include:

  • Fragile X Syndrome
  • Autism Spectrum Disorder
  • Down Syndrome
  • Kabuki Syndrome
  • Epilepsy
  • Epileptic Encephalopathies
  • Hemophilia
  • Mucopolysaccharidosis (MPS) Disorders
  • Rett Syndrome
  • CDKL5 Deficiency Disorder
  • Sickle Cell Disease
  • Angelman’s Syndrome
  • Wide range of additional rare genetic disorders

Rare Disease and Pediatric Center for Excellence

With the vital need for effective cognitive measurement in rare disease and pediatric clinical trials, Cogstate has established a Rare Disease and Pediatric Center of Excellence. The Center provides industry-leading clinical and scientific expertise focused on the selection, adaptation, optimization, validation and administration of cognitive and behavioral measures in clinical studies in rare diseases and pediatrics.

Pamela VentolaPam Ventola, PhD
Senior Science Director at Cogstate, Associate Professor at the Yale Child Study Center

Dr. Ventola leads Cogstate’s Rare Disease and Pediatric Center for Excellence, providing Cogstate customers with strategic oversight and expert guidance throughout all stages of their study planning and execution – from endpoint selection, rater training and strategic monitoring to final statistical analysis. As a licensed clinical psychologist, Dr. Ventola’s primary clinical expertise is in pediatric neuropsychology and specifically developmental and genetic disorders. Dr. Ventola received her Doctor of Philosophy in Clinical Psychology from University of Connecticut and completed her clinical training and Postdoctoral Fellowship at the Yale University School of Medicine, Child Study Center.

Solutions for Every Stage of Your Study Development

Cogstate’s clinical trial services, coupled with innovative operational approaches, advanced analytics, and scientific consulting, help research teams draw conclusions from study data faster and with more accuracy. Learn how we can support your study:

Scientific Consulting

Computerized Cognitive Tests

Rater Training

Central Monitoring

Scale Management

Remote / At-home Testing

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

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