Cell and Gene Therapy

Published Date: 9 January 2023


Cell and Gene Therapy Product (CGTP) Monitoring 

Cell and Gene Therapy Products (CGTP) involve treating patients with complex biologics such as proteins, gene therapy vectors, attenuated viruses, altered cells, or even bioengineered tissues, and their activity inside patients is difficult to measure. Additionally, special considerations are needed to monitor the manufacturing consistency of viruses, vectors, and cells. The current lack of standards for monitoring these products once they are delivered to a patient makes it difficult for sponsors to demonstrate the time frame of activity, the safety, and even some aspects of the efficacy of their products. Lack of data standards creates more time consuming review processes for regulators due to the variability in protocols. In tandem, uncertainty on how regulators will evaluate next-generation sequencing (NGS) based assays and the accompanying bioinformatics protocols leads to longer and more expensive product development cycles and can ultimately delay getting cures to patients. 

CDISC is collaborating with Embleema to expedite development of quality therapies with consensus-based, platform independent standards for CGTP monitoring that can be applied by manufacturers to support both data clarity and cost savings. Initial standards development will be achieved via three projects. 

Project 1: Protocol for NGS Evaluation of Gene Editing 

The objective of Project 1 is to develop a consensus-based, platform independent protocol for next generation sequencing (NGS) based evaluation of gene editing on target and off target editing events including SNVs, indels, and translocations with both preclinical and clinical applicability. The scope of this project includes standardization considerations for the following steps in the CGTP product evaluation process. The deliverables are standardized reports indicating details of harmonized steps describing experimental and analytical aspects of the entire protocol, input and output data, and editing evaluation metrics. 

  1. Experimental design
  2. Reference preparation 
  3. Reads preparation 
  4. Bioinformatics Analysis 
  5. Statistics analysis 
  6. Reporting on results 

How to Participate in Project 1

We invite your organization to participate in Project 1 of this collaborative initiative. Please visit the Participate tab to learn more.


Project 1: Protocol for Next Generation Sequencing (NGS) Evaluation of Gene Editing

We are looking for volunteers with expertise and skills in the following areas to support development of a standardized protocol for next generation sequencing (NGS) based evaluation of gene editing on target and off target editing events: 

Essential Skills 

  • All volunteers must have familiarity with gene editing technologies, NGS platforms, and experimental design for detection of on-target and off-target effects. 
  • Additionally, volunteers should have experience with: 
    • NGS assay protocols (wet lab) including sample collection (what, when, and how), sequencing target enrichment, election of key controls, library preparation, and sequencing protocols, 


    • Bioinformatics analysis protocols including major bioinformatics pipelines, algorithms for in-silico off-target site selection, sequencing quality assessment, alignment and variant calling around edit sites, spike-in oligo design, annotation, result thresholding, and major input and output file formats. 

“Plus” Skills 

  • General familiarity with CDISC SDTM and controlled terminology standards 
  • General familiarity with IEEE BioCompute 
  • Familiarity with global regulatory guidelines for CGTP 
  • Biostatistics and power analysis 

The expected time engagement is a six-month commitment, or longer if able with ability to attend a one-hour weekly meeting. One to two additional hours may be requested per week for preparation and/or development work, as needed. Weekly meetings and workshops will be recorded and available for review. 

Please join us!

To participate, please complete our Volunteer Form and indicate the Cell and Gene Therapy as the Standards Development team.