Home | Central nervous system | Aromatic L-amino acid decarboxylase (AADC) deficiency | Publications | 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

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

Always consult the prescribing information before prescribing any products

MED-US-CORP-2500008 | November 2025

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.

Fast-track access

Enter your NPI number for quick verification.

Don't have an NPI number? Switch to manual verification

MED-US-CORP-2600009 | September 2026

Register now:

Phone

This field is for validation purposes and should be left unchanged.

Firstname(Required)

Surname(Required)

Hospital(Required)

Work email(Required)

Specialty(Required)

Country(Required)

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:
Marketing permissions - 1(Required)
I confirm that I am a licensed healthcare professional and would like to access this Website*
Marketing permissions - 2(Required)
I understand that PTC will process my personal data, including contact details, for the purposes of providing me access to this Website*
Keep me updated on the latest MEDhub content available*(Required)
Yes, please sign me up
No, I do not wish to receive updates

* indicates a required field

Back to NPI verification

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 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: https://ptcprivacy.com/. 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: Dataprivacy@ptcbio.com.

You can opt-out from PTC updates at any time by clicking the 'unsubscribe' link at the bottom of any email.

MED-US-CORP-2600009 | September 2026

MED-US-AADC-2600007 | February 2026

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

Fast-track access

Register now:

Authenticating...

This content is protected.

COMING SOON