Publication: Deriving vignettes for the rare disease AADC deficiency using parent, caregiver and clinician interviews to evaluate the impact on health-related quality of life

This research article, published in Journal of Patient-Reported Outcomes, describes the 5-stage development of vignettes describing aromatic L-amino acid decarboxylase (AADC), for use in a subsequent health-state utility elicitation study

  • Learn about the process of development of a symptoms matrix and draft vignettes describing AADC deficiency motor milestones
  • Understand how hypothetical health-state vignettes can subsequently be used to develop health-state utilities for AADC deficiency
  • Recognize the potential importance of health-state utilities in capturing what it is like to live with AADC deficiency, and their utility in economic modelling to investigate the cost-effectiveness of AADC deficiency treatments

Hanbury A, et al. Patient Relat Outcome Meas. 2021;12:1–12

Once registered, you will be able to view the abstract and be provided the DOI and PubMed links for this publication.
Register now to unlock the content

Register now to access the content on this page

Already registered?
If not, register below

  • This Website is intended only for healthcare professionals (“Website“), is operated by PTC Therapeutics. (together with its affiliates “PTC”). In order to access the restricted content on this Website:

  • PTC will delete immediately the information provided if we cannot confirm you are healthcare professional.
    Otherwise, in case of successful verification, PTC will retain the information provided for a period of two (2) years two (2) years following your registration (i) only for the purposes of providing you access to this Website; and/or (ii) in case you signed up to receive PTC updates.

Providing your personal data and your consent is voluntary, and you have the right to withdraw your consent at any time, without giving any reasons. Please consult our Privacy Statement for more information on the processing of your personal data.
For any enquiry relating to the processing of your personal data or if you want to exercise your privacy related rights or withdraw your consent, you can contact PTC’s Privacy Office at:

You can unsubscribe from updates at any time when receiving an email from PTC.

MED-ALL-AADC-2200023 | October 2023
Sign in or register to access exclusive content on this site 

Welcome to MEDhub

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides you with the latest scientific data and expert
insights on the diagnosis and management of a range of rare diseases across the neuromuscular system, central nervous system, and other areas

This content is protected. To view it please enter your email address below:

Register here to access the content on the site
MED-ALL-CORP-2200029 | October 2023


The content you are trying to access is not currently available.

We will be updating the MEDhub site regularly to provide you with up-to-date, insightful expert-led content. To be notified when new additions become available, register now.