THE CORE GROUPS
An organization is only as effective as its people. Fortunately, we are privileged to work with the best.
Our Core Groups provide expertise and operational support for internal and external stakeholders alike. Although the Core Groups are based at the Children’s Hospital of Philadelphia, they routinely support projects designed and directed by external stakeholders, including our site investigators, trainees, and patient advocacy leaders.
The Core Groups ensure that the GLIA-CTN’s vast data and sample repositories can be leveraged to support groundbreaking new research efforts, including collaborating with partners in the biotechnology and pharmaceutical industries to accelerate the development of novel therapeutics and other breakthroughs in the leukodystrophy community.
Biorepository and Translational Science Core (BTSC)
Core Group Leads: Asako Takanohashi, PhD, DVM (Laboratory Director) + Sunetra Sase, PhD (Research Associate Scientist II)
The Biorepository and Translational Science Core (BTSC) is broadly responsible for a) management of biospecimen processing and storage logistics and b) oversight of the design and optimization of preclinical studies.
Samples are collected from all participating GLIA-CTN sites under the Myelin Disorders Biorepository Project (“MDBP”) study protocol and stored securely at the Children’s Hospital of Philadelphia. Samples are routinely shared with internal and external academic collaborators to support pilot projects and independent grants, as well as with biotechnology and pharmaceutical companies looking to develop novel therapies for leukodystrophies.
As is true for GLIA-CTN data, samples are never sold. They are made available free of charge to academic collaborators, whereas industry partners are invited to contribute to the overhead costs (e.g., salaries, equipment, supplies, etc.) incurred from the collection and management of these samples.
Biomedical Informatics and Statistical Core (BISC)
Core Group Lead: Russell D’Aiello (Data Integration Analyst III)
The Biomedical Informatics and Statistical Core (BISC) comprises data integration analysts, database administrators, and biostatisticians at the Children’s Hospital of Philadelphia.
The BISC was instrumental in establishing the a robust multi-institutional data management infrastructure to support the various projects of the original GLIA-CTN grant, many of which have since been leveraged to support new collaborative projects with academic researchers both within and outside of the GLIA-CTN, advocacy collaborators looking to support their own initiatives with real-world data, and industry partners engaged in therapeutic development efforts.
Clinical Trials and Compliance Core
Core Group Lead: Constance Besnier, CCRP (Clinical Research Program Manager I)
The Clinical Trials and Compliance Core is responsible for ensuring that all clinical research activities conducted through the GLIA-CTN’s various study protocols comply with institutional policies, best practices, federal regulations, and state and local laws. This highly specialized group provides support to investigators conducting human subjects’ research, and works directly with study staff across all active GLIA-CTN sites to streamline IRB submissions and amendments, informed consent training, and day-to-day operational support for study activities.
The Clinical Trials and Compliance Core is ultimately responsible for all regulatory aspects of Institutional Review Board (IRB) documentation across the entire network of GLIA-CTN sites, ensuring that new study submissions, continuing reviews, amendments, and reporting of adverse events and deviations are conducted per institutional policy and in a timely manner.
Genomics Core
Core Group Lead: Amy Pizzino, MS, LCGC (Genetic Counseling Team Lead)
The Genomics Core’s primary responsibility is to validate diagnostic status for any research participant included in a GLIA-CTN data set, and to ensure that documentation exists to independently verify the diagnosis. This process includes standardization of gene transcripts and other key elements within individual’s molecular testing history, a critical exercise when subjects in a typical patient cohort may have had diagnostic testing performed via dozens of different commercial laboratories.
In addition to the above , the Genomics Core also participates extensively in the leukodystrophy-specific Gene Curation Expert Panel (GCEP) and Variant Curation Expert Panel (VCEP) in ClinGen, which it helped to establish as part of another NINDS-funded project awarded in May 2024.
Natural History Regulatory Core
Core Group Lead: Anjana Sevagamoorthy, MD, MPH (Staff Scientist I)
The Natural History Regulatory Core was tasked with creating a repository of retrospective natural history data for the key leukodystrophies covered in the initial GLIA-CTN grant, which has since been expanded as a result of secondary funding from industry partners and even advocacy organizations. This data has been leveraged to support academic collaborations, therapeutic development efforts by industry partners, and patient advocacy-led initiatives such as Patient-Focused Drug Development (PFDD) meetings.
The Natural History Regulatory Core oversees a workflow that covers data collection, abstraction, and entry into the GLIA-CTN databases, along with downstream data verification and auditing exercises to ensure that the data is ready to be used at a moment’s notice. Depending on the purpose of a given project, this data is maintained either in REDCap (non-21 CFR Part 11) and/or Advarra (21 CRF Part 11) databases. The Natural History Regulatory Core works closely with the GLIA-CTN BISC to ensure that data can be exported and delivered to stakeholders (inc. academic collaborators, industry partners, and/or regulatory agencies) in the appropriate format.
Natural History Outcomes Core
Core Group Lead: Francesco Gavazzi, MD, PhD (Senior Principal Scientist)
The Natural History Outcomes Core is primarily responsible for the development, validation, and implementation of prospective outcome measures in the context of the same disease-specific natural history studies referenced above.
It is responsible for training investigators and staff throughout the GLIA-CTN site network on the administration of clinical outcome assessments (COAs) and patient reported outcomes (PROs), ensuring that these are standardized by assessing inter-rater reliability. The Natural History Outcomes Core has developed processes to incorporate the voice of the patient community to ensure that newly developed outcome measures are both practical and meaningful to patients and families when applied in the context of natural history studies and/or clinical trials.