Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Mitigating the impact of study-start delays in clinical trials for rare disorders : insights and lessons from a PKAN trial

Bracke, Marleen M.G. ; Polet, Sjoukje S. ; Plantinga, Mirjam and de Koning, Tom J. LU (2025) In Orphanet Journal of Rare Diseases 20(1).
Abstract

Background: Rare disease clinical trials are notorious for complexities that frequently result in study-start delays. However, there is limited knowledge about how participants and researchers perceive these delays and what factors shape their experiences. A clinical trial in the rare, progressive disorder Pantothenate Kinase-Associated Neurodegeneration—the PKAN trial—encountered an unexpected delay. As this delay caused noticeable challenges for both PKAN participants and researchers, we sought to unravel their experiences in order to mitigate the impact of a study-start delay in future trials. Results: Fourteen semi-structured qualitative interviews were performed with PKAN participants (n = 9), represented by their caregivers or... (More)

Background: Rare disease clinical trials are notorious for complexities that frequently result in study-start delays. However, there is limited knowledge about how participants and researchers perceive these delays and what factors shape their experiences. A clinical trial in the rare, progressive disorder Pantothenate Kinase-Associated Neurodegeneration—the PKAN trial—encountered an unexpected delay. As this delay caused noticeable challenges for both PKAN participants and researchers, we sought to unravel their experiences in order to mitigate the impact of a study-start delay in future trials. Results: Fourteen semi-structured qualitative interviews were performed with PKAN participants (n = 9), represented by their caregivers or patient organisations, and researchers (n = 5) involved in the PKAN trial. During the delay, worries arose among some participants, which were directed towards the researchers. These participants expressed desperation to be included in the study in the early stages of the disease and held overly optimistic expectations for the PKAN trial. However, most participants did not experience a significant impact of the delay on their lives. On their side, the researchers mentioned the challenge of managing expectations while preserving hope. Most participants were satisfied with the communication; however, some participants highlighted concerns regarding the lack of transparency. Different interests between participants and researchers came to light during the delay. Some researchers advised providing background information on clinical trials, whereas all participants indicated that they did not need this information. Conclusions: Our study indicates that the delay in the start of the clinical trial had a significant effect on all the researchers and on some PKAN participants, especially those who urgently wanted the research to start, due to the pressure of the severe and progressive nature of the disorder. For these participants, there was a sense of discontent with how the researchers communicated, which made them feel that the researchers had different interests. This study also revealed that researchers had different perceptions of what information was needed than what participants wanted. To lessen the impact of such delays on participants and researchers, we recommend both honest and transparent communication and adjusting communication to meet participants’ needs. Close collaboration between participants, patient organisations and researchers can help achieve this goal.

(Less)
Please use this url to cite or link to this publication:
author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Clinical trials, Pantothenate kinase-associated neurodegeneration, Patient organisations, PKAN, Progressive disorders, Qualitative interview study, Rare disorders, Study initiation delays
in
Orphanet Journal of Rare Diseases
volume
20
issue
1
article number
572
publisher
BioMed Central (BMC)
external identifiers
  • scopus:105021406773
ISSN
1750-1172
DOI
10.1186/s13023-025-04035-1
language
English
LU publication?
yes
additional info
Publisher Copyright: © The Author(s) 2025.
id
24645cd3-4c2f-44a3-aeec-247347c7d1da
date added to LUP
2025-11-19 09:51:56
date last changed
2025-11-19 10:21:40
@article{24645cd3-4c2f-44a3-aeec-247347c7d1da,
  abstract     = {{<p>Background: Rare disease clinical trials are notorious for complexities that frequently result in study-start delays. However, there is limited knowledge about how participants and researchers perceive these delays and what factors shape their experiences. A clinical trial in the rare, progressive disorder Pantothenate Kinase-Associated Neurodegeneration—the PKAN trial—encountered an unexpected delay. As this delay caused noticeable challenges for both PKAN participants and researchers, we sought to unravel their experiences in order to mitigate the impact of a study-start delay in future trials. Results: Fourteen semi-structured qualitative interviews were performed with PKAN participants (n = 9), represented by their caregivers or patient organisations, and researchers (n = 5) involved in the PKAN trial. During the delay, worries arose among some participants, which were directed towards the researchers. These participants expressed desperation to be included in the study in the early stages of the disease and held overly optimistic expectations for the PKAN trial. However, most participants did not experience a significant impact of the delay on their lives. On their side, the researchers mentioned the challenge of managing expectations while preserving hope. Most participants were satisfied with the communication; however, some participants highlighted concerns regarding the lack of transparency. Different interests between participants and researchers came to light during the delay. Some researchers advised providing background information on clinical trials, whereas all participants indicated that they did not need this information. Conclusions: Our study indicates that the delay in the start of the clinical trial had a significant effect on all the researchers and on some PKAN participants, especially those who urgently wanted the research to start, due to the pressure of the severe and progressive nature of the disorder. For these participants, there was a sense of discontent with how the researchers communicated, which made them feel that the researchers had different interests. This study also revealed that researchers had different perceptions of what information was needed than what participants wanted. To lessen the impact of such delays on participants and researchers, we recommend both honest and transparent communication and adjusting communication to meet participants’ needs. Close collaboration between participants, patient organisations and researchers can help achieve this goal.</p>}},
  author       = {{Bracke, Marleen M.G. and Polet, Sjoukje S. and Plantinga, Mirjam and de Koning, Tom J.}},
  issn         = {{1750-1172}},
  keywords     = {{Clinical trials; Pantothenate kinase-associated neurodegeneration; Patient organisations; PKAN; Progressive disorders; Qualitative interview study; Rare disorders; Study initiation delays}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{Orphanet Journal of Rare Diseases}},
  title        = {{Mitigating the impact of study-start delays in clinical trials for rare disorders : insights and lessons from a PKAN trial}},
  url          = {{http://dx.doi.org/10.1186/s13023-025-04035-1}},
  doi          = {{10.1186/s13023-025-04035-1}},
  volume       = {{20}},
  year         = {{2025}},
}