FIND AADC-D
Research type
Research Study
Full title
Evaluation of the efficacy of a novel method (the Profiling of Neurotransmitters Disorder query) involving coded healthcare data to facilitate clinicians in the identification of undiagnosed patients with a rare neurotransmitter disorder, Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D).
IRAS ID
311518
Contact name
Sam Amin
Contact email
Sponsor organisation
University Hospitals Bristol and Weston
Duration of Study in the UK
1 years, 1 months, 17 days
Research summary
Summary of Research
This is a feasibility study to assess the ease of use and efficacy of a novel methodological method, using healthcare coding data, to facilitate a timely identification of patients with a type of neurological condition, a neurotransmitter disorder.The POND query (Profiling of Neurotransmitter Disorders query) has been created to help paediatricians identify patients in their own departments who may benefit from investigation for having a possibly undiagnosed neurotransmitter disorder.
With this feasibility study, we hope to support paediatricians to actively reflect upon symptomatic patients in their care who have certain signs and symptoms. The POND query uses existing healthcare codes to propose patients with these relevant signs and symptoms. The resulting list for the paediatrician to review is a filtered list, intended to aid the clinician reflect on whether patients with suggestive signs and symptoms have received appropriate and up-to-date investigations indicated for their presentation. Its efficacy as a clinical cool is yet to be evaluated, which this study aims to do.
To assess how effective the POND query is, the main study site (University Hospitals Bristol and Weston) would like to see how well it performs in different hospital trusts. The information to be analysed is whether or not the POND query has worked (whether it has identified patients with appropriate signs and symptoms) and whether the participating clinician has found it acceptable to use.
Finally, we are interested to know if any patients will proceed to be investigated for the possibility of a neurotransmitter disorder and be found to have this. This may inform any considerations for broader use on a national level.
Summary of Results
Background and AimsAromatic L-Amino Acid Decarboxylase deficiency (AADCd) is a rare, phenotypically heterogenous neurotransmitter disorder, posing challenges for diagnosis. We aimed to assess the efficacy and acceptability of interrogating routine hospital data to identify possible AADCd patients.
Methods
Design: Mixed methods feasibility study.
Setting: UK Secondary and tertiary care hospitals.
Procedure: A Structured Query Language (SQL) query was applied to hospital datasets to produce filtered lists of patients, ranked according to the presence of AADCd-consistent diagnostic and procedural codes. Findings were collected using a study proforma. No patient data was reported to the research team.
Results
Seven sites (five tertiary) participated. Data collection spanned 01/06/2022 to 31/10/2023. 340 medical records were reviewed, of which 76 patients had previously been investigated for a possible neurotransmitter disorder, 4 were currently being investigated, 31 were suitable for investigation, with 9 subsequently approached for further testing. No patients were identified as having AADCd. Thematic feedback included accuracy and technical, application challenges. Three sites reported this method could help identify AADCd patients.
Conclusions
Medical record interrogation to identify potential AADCd patients is feasible. Challenges including operational capacity, technical issues and uncertainty regarding efficacy remain.
REC name
London - Chelsea Research Ethics Committee
REC reference
22/PR/0411
Date of REC Opinion
16 May 2022
REC opinion
Favourable Opinion