Gene Therapy for Rare Diseases: Considerations for Both Clinical and Post-Marketing Studies

Life Sciences, Clinical Trials, Drug Safety, Commercialization & HEOR, Cell and Gene Therapy,
  • Tuesday, January 29, 2019

There are approximately 7,000 distinct rare diseases affecting 350 million people worldwide, approximately 80 percent of which are caused by faulty genes. Scientific advances such as the CRISPR/Cas9 genome-engineering system have simplified the pharmaceutical and biotech industry’s ability to develop gene therapies, especially for single gene mutation disorders. The US Food and Drug Administration (FDA) has more than 700 active Investigational New Drug Applications (INDs) for gene and cell therapies and in 2017, the FDA approved two cell-based gene therapies and it is anticipated that gene therapy will become a mainstay treatment for many rare diseases.

In this webinar, Quanticate and QVigilance will examine the challenges of rare diseases studies focusing on gene therapy treatments, including appropriate study design, statistical analyses and long-term post-authorisation pharmacovigilance and risk management requirements. Use of appropriate data capture and data quality oversight methods will also be discussed.

Study Design & Statistical Analyses Considerations

As most rare diseases are serious or life-threatening and have unmet medical needs, clinical research is designed to demonstrate efficacy without prolonged exposure to an ineffective treatment. To be able to design such a study, it would be ideal to have an understanding of the disease history and suitability of endpoints, but often this information is lacking. In addition, the endpoint choice for gene therapies can be further complicated by guidance asking for a demonstration of a treatment outcome that virtually never occurs in the natural course of the disease, as in the case of haemophilia gene therapies.

These items will be discussed alongside approaches for the development of a suitable clinical assessment tool for the validation of suitable biomarkers, use of historical control data and an introduction to adaptive randomisation methods.

The Pharmacovigilance Problem

At the time of authorisation of a new therapy for any rare disease indication, there is often limited safety and efficacy data because only a small number of patients have been treated with the new therapy. Furthermore, gene therapies are usually one-time procedures. Collated evidence for safety and efficacy may be limited by the short observation period of clinical trials which are unlikely to yield any effects on long-term exposure, either positive or negative.

To enhance knowledge of the known safety profile of gene therapies once the product is released on the market, pharmacovigilance and risk management of the product requires a proactive and imaginative approach to the collection of real-world data beyond the reliance on spontaneous reporting. In this webinar, the following areas will be discussed:

  • Additional monitoring schemes
  • Long-term follow-up from interventional trials
  • Targeted follow-up questionnaires and activities, non-interventional studies and registries
  • Compassionate use and other managed access programs
  • Harnessing the opportunities of patient support programs and market research
  • Risk management activities
  • Signal management

Data Capture and Data Quality Considerations

The data management of a rare disease gene therapy study should ensure all data are captured in a manner that maximises information collected whilst minimising the burden placed on often very sick patients. Following gene therapy, long-term surveillance of patients will be required, and these data must also be collected and cleaned in a controlled way. The following points will be discussed:

  • An electronic data capture (EDC) solution to ensure low monthly maintenance
  • A streamlined e-check validation approach in tandem with Data Quality Oversight techniques to reduce the burden on sites
  • Flexibility with ePRO solutions selection to ease data compliance for subjects and reduce client costs.


Karen Ooms, Executive Vice President, Head of Statistics, Quanticate

Karen Ooms oversees the Strategic Delivery Business Unit (SDBU) at Quanticate. This includes the management of clinical data management, biostatistics, programming, medical writing and pharmacovigilance departments. Karen is a Chartered Fellow of the Royal Statistical Society and has a background in biostatistics spanning over 25 years. Prior to joining Quanticate in 1999 (Statwood), Karen was a senior statistician at Unilever.

Message Presenter

David Hukin, Managing Director, QVigilance

David Hukin has a PhD in Cell Physiology and Biophysics and 15 years’ experience in the pharmaceutical industry, with more than 14 years working in the pharmacovigilance sector. David has worked in small, medium-sized and large specialty pharma/biotech companies and has gained pre- and post-marketing experience in a range of therapeutic areas including gastroenterology, hepatology, neurology, oncology, psychiatric conditions, advanced therapy medicinal products (ATMPs) and orphan drug indication products for rare diseases. Since 2015, David has worked in the specialist pharmacovigilance service provider sector, leading multiple large teams responsible for clinical and post-marketing for customers ranging from small pharma/biotech to large specialty and generic companies. He joined Quanticate in 2018 and supported the launch of its sister company, QVigilance, which solely specialises in pharmacovigilance.

Message Presenter
Claude Price, Quanticate

Claude Price, Associate Director, Clinical Data Management, Quanticate

Claude Price oversees the portfolio delivery for all Clinical Data management activities within Quanticate, consisting of all project management, study deliverables and technology. Claude has over 17 years of experience within Clinical Data Management spanning from study start up to completion across numerous therapeutic areas across phases I-IV

Message Presenter

Who Should Attend?

This webinar is suitable for anyone planning or conducting rare disease trials with a focus on gene therapy, and also those responsible for statistical analysis, clinical data management and pharmacovigilance. Revelant job titles include:

  • Clinical Study Managers
  • Medical Directors
  • Directors of Clinical Operations
  • Pharmacovigilance Directors
  • Heads of Statistics
  • Clinical Data Management Directors
  • Outsourcing/Procurement Leads

What You Will Learn

  • Appropriate study design and statistical analyses 
  • Long-term post-authorisation pharmacovigilance
  • Risk management activities
  • Appropriate data capture methodologies
  • Key considerations for improving data quality (Data Quality Oversight techniques)

Xtalks Partners


Quanticate, headquartered in the UK and USA, is a leading global Clinical Research Organization (CRO) primarily focused on the management, analysis and reporting of data from clinical trials and post-marketing surveillance. As The Clinical Data Experts our team provides high quality, efficient outsourcing solutions for companies who need additional capacity or who want to outsource certain activities in their entirety.

Our clinical and post-marketing services include scalable on-site and off-site clinical data management, biostatistics, clinical programming, PK/PD analysis, medical writing, pharmacovigilance and consultancy. Quanticate was announced a five category winner in the annual CRO Leadership Awards for Quality, Reliability, Productivity, Regulatory and Innovation. Quanticate was the first CRO to introduce the Centralized Service Provision (CSP) approach to outsourcing supported by its data centralization and visualization tool for both single study and cross-study data analysis. Please visit the website at for further information and access to white papers.


QVigilance is a pharmacovigilance (PV) service provider specialized in comprehensive PV and risk management services for Sponsors of clinical trials and Marketing Authorisation Holders. Our team is adept in supporting customers transitioning from clinical trials to post-marketing and establishing a compliant pharmacovigilance system to support our customers’ products. QVigilance offers a high-quality and fully comprehensive package of pharmacovigilance and medical device vigilance services, including safety database solutions, case processing & reporting, signal and risk management, regulatory intelligence, QPPV, EudraVigilance, PSMF and PV consultancy for both the global and European market. We are committed to delivering quality-driven PV services and working collaboratively and flexibly with our customers. Together, we work towards continuous improvement in our understanding of benefit-risk profile of our customers’ products and thereby safeguard patients. Please visit the website at for further information and access to our white papers and resources. 

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