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Pharmacogenomic Data Submissions — Companion Guidance

DraftCenter for Drug Evaluation and Research08/28/2007
Standard Operating ProceduresGLPQuality control metricsGood Laboratory PracticesValidation

Description

This guidance is intended to be used as a companion to the guidance Pharmacogenomic Data Submissions (March 2005). It reflects experience gained since the issuance of that guidance with voluntary genomic data submissions as well as with review by the FDA of numerous protocols and data submitted under investigational new drug (IND) applications, new drug applications (NDAs), and biologics license applications (BLAs). The recommendations are intended to facilitate scientific progress in the field of pharmacogenomics and to facilitate the use of pharmacogenomic data in drug development. The FDA believes that the recommendations made in this companion guidance, together with the recommendations in the March 2005 guidance, will benefit sponsors considering the submission of either voluntary genomic data submissions or marketing submissions containing genomics data. As technology changes and more experience is gained, these recommendations may be updated.

Key Topics

Terms and concepts identified from this document

Scope & Applicability

Product Classes

3
Diagnostic Device

unique issues with adaptive study designs for diagnostic devices; heterogeneous in scope and include devices that may be invasive

Genomic Data Submission

Regulatory submission type containing clinical and non-clinical genomic data

Microarray

there are numerous variables that may affect sample reproducibility in microarray studies.

Stakeholders

2
Manufacturer

Entity responsible for submitting NDINs

Sponsor

Entity responsible for submitting applications under section 524B

Regulatory Context

Regulatory Activities

5
IND

Investigational New Drug submissions

Voluntary Genomic Data Submissions

Regulatory pathway for pharmacogenomic data

Genotyping Report

Information to be included in the genotyping report regardless of submission type.

NDA

New Drug Application

BLA

Biologics License Application

Document Types

6
Clinical Study Reports

Reports where sponsors should report protocol deviations

ExpSumTable

Experimental summary table used to summarize key parameters in a microarray study

Study Data Tabulation Model

SDTM dataset package required for submission.

Clinical Study Report

CSR supported by ADaM datasets; Contains analysis results and animal listings

Genotyping Report

Section III.C Genotyping Report

Standard operating procedures

SOPs describing the manufacturing process for CSP

Attributes

7
RNA Quality

ensure quality during isolation and confirm high quality before use

Control Group Flag

Group characteristic identifier

P-value

Statistical parameter for genes of interest

Fold Change

Parameter included in gene list submissions

RNA integrity

clearly visible 18S and 28S RNA bands are taken as measure of RNA integrity.

QC parameters

Array QC parameters performed by vendor.

Linear dynamic range

range within which accuracy should be maintained

Technical Details

Substances

9
RNA

Examples of GT products can include purified nucleic acid such as RNA.

Labrafil

Test material used in exposure domain

Drug X

Substance used in a 6-day repeated-dose experiment in rats

Heparin

Example of a drug formulated by activity

Genomic DNA

Thresholds for concentration, volume, and quality must be justified.

DNA

reacting with DNA bases

RNA Stabilizer

recommend that the need for adding RNA stabilizing agents to samples/reagents be assessed

Liquid nitrogen

Used for cryopreservation storage

Globin mRNA

the overabundance of globin mRNA can result in failure to detect some transcripts that are of low abundance.

Testing Methods

10
Microarray

Gene expression data from microarrays

Chemical Analysis

used to demonstrate relevance of previous toxicity testing

Statistical Analyses

considerations for irritation and sensitization analysis

Single-nucleotide polymorphism experiments

Analytical methodology for drug dosing or metabolism

Genotyping

Baseline laboratory assessment for patient enrollment.

PCR

Used for MRD measurement and chimerism testing.

Quantitative RT-PCR

Transfer of genomic biomarker sets from microarrays to other platforms such as quantitative RT-PCR.

Proficiency Testing

Section IV. Proficiency Testing

Ficoll-Hypaque centrifugation

Some commonly used methods include the Ficoll-Hypaque centrifugation

Spectrophotometric analysis

Referenced in American Laboratory regarding standard additions.

Processes

7
RNA Isolation

One of the most critical steps in performing RNA-based experiments; Establishing an upper limit for batch size will reduce problems encountered during the scaling-up process since long processing times can jeopardize RNA integrity.

Microarray Gene Expression Experiment

Scientific process involving raw and normalized gene expression data

Proficiency testing

Assessment of the overall competence of a facility

Microarray gene expression study

Foundation for deriving biological conclusions

Target labeling

We recommend the use of consistent methods of target labeling throughout the particular study

Hybridization

Traditional breeding practice used to create genetic variation.

Sample processing

Include sample processing and labeling details.

Clinical Concepts

10
Genomic biomarkers

Specific genes sets derived from microarray experiments proposed as genomic biomarkers.

Mild periportal vacuolation

Microscopic finding observation

Liver

Organ evaluated for microscopic findings

ALT

Alanine aminotransferase clinical pathology test

Monocyte count

Clinical pathology test parameter

Blood

Specimen type for clinical pathology

Liver Toxicity

Risk associated with long-term therapy requiring monitoring

Adverse events

Safety findings including deaths and post-mortem examinations

Biological pathways

Determine whether biological pathways may be of functional relevance to the mechanism of drug action.

Whole blood

RNA can be isolated from whole blood or from peripheral blood mononuclear cells (PBMCs).

Identified Hazards

Hazards

2
RNase

RNA is sensitive to degradation by RNase

DNA degradation

Factors that can result in DNA degradation including nucleases and freeze-thaw cycles.

Standards & References

External Standards

6
MIAME

Minimum Information About a Microarray Experiment guidelines for experimental parameters

SEND

Standard for Exchange of Nonclinical Data; Standard for Exchange of Nonclinical Data for toxicology studies.; Standard for Exchange of Nonclinical Data provides structure for nonclinical tabulation datasets; Standard for nonclinical data tabulation; Standard for nonclinical study data; Standard for nonclinical tabulation data; dataset submitted to the FDA for nonclinical trials

CDISC SDTM

Standard for mapping health care data for submission; Study Data Tabulation Model used for clinical data submission

SDTM

The Study Data Tabulation Model (SDTM) and Analysis Data Model (ADaM) specifications provided in this document

Paperwork Reduction Act of 1995

Regulatory compliance for information collection

Scanner reference materials

Routine use of standardized scanner reference materials for calibrations.

Specifications

1
A260/A280 ratio

the ratio of absorbance at 260nm and 280 nm (A260/A280) can be used to assess RNA purity and is typically recommended to be greater than 1.8.

ICH References (1)

ICH E3

document remedial actions in the clinical trial report; Structure and Content of Clinical Study Reports standards.

Enforcement Impact

Deficiencies cited in Warning Letters referencing the same regulations

Failure of the study director to assure protocol compliance and accurate data recording
1
Failure of the study director to assure experimental data are accurately recorded and verified
1
Failure to properly identify specimens
1
Failure to assure experimental data were accurately recorded and verified
1
Failure to authorize and document deviations from standard operating procedures
1
QAU failed to assure reported results accurately reflect raw data
1
Failure to maintain a Quality Assurance Unit
1
Study director failed to assure protocol compliance and data accuracy
1
Fabrication of animal weight data
1
Failure to establish procedures for handling test and control articles
1

Related Warning Letters (9)

Related MFDS Guidelines

Korean regulatory guidelines covering similar topics

See Also (8)