International Niemann–Pick Disease Alliance
At Niemann-Pick UK, we know that the road to an ASMD diagnosis is often not straightforward. Many individuals and families experience years of uncertainty, unanswered questions, and repeated visits to healthcare professionals before finally receiving a diagnosis. By sharing your story, you can help us better understand these experiences and identify what might help others reach a diagnosis sooner. Every experience matters, and your insights could play an important role in improving awareness, informing future research, and helping healthcare professionals recognise ASMD earlier. Thank you for considering taking part.
We are inviting people affected by Acid Sphingomyelinase Deficiency (ASMD) to take part in the My Rare Journey® survey, “The Invisible Years: Understanding the Journey to an ASMD Diagnosis”.
The aim of the survey is to better understand the journey to an ASMD diagnosis and why diagnosis can sometimes be delayed. We want to understand what happened before ASMD was recognised, including the first signs and symptoms, experiences of seeking medical help, factors that may have made reaching a diagnosis more difficult or taken longer, and what ultimately helped lead to the diagnosis.
The survey has been co-created with The International Niemann-Pick Disease Registry (INPDR), Niemann-Pick UK (NPUK), the International Niemann-Pick Disease Alliance (INDPA), the National Niemann-Pick Disease Foundation (NNPDF) and the wider ASMD community. It is delivered through My Rare Journey®, developed by OpalMedica, a medical technology company focused on improving the earlier identification of rare diseases. This study is funded by Chiesi Global Rare Diseases, part of Chiesi, a global biopharmaceutical company. Chiesi has no interaction with patients, patient caregivers, or patient groups working on this project and has no influence over the content of the survey or study design. Aggregated anonymised study findings may be shared with Chiesi. No personally identifiable information will be shared with Chiesi.
OpalMedica is the sponsor of the study.
What we learn from My Rare Journey® will help us understand the patterns, clues and barriers that occur before diagnosis. These insights will inform future research and the development of tools designed to help healthcare professionals recognise when a rare disease such as ASMD should be considered earlier.
Participation is entirely voluntary and the survey takes approximately 15–20 minutes to complete.
You must be aged 18 or over to complete the survey. You may complete it about yourself or on behalf of a person with ASMD who is under 18.
Family members and caregivers of people with ASMD who have passed away, sometimes referred to as legacy families, are also warmly invited to participate and share their experiences of the journey to diagnosis.
Taking part is your choice. The final questions about previous tests and investigations are optional, and you can stop the survey at any time without giving a reason.
By sharing your experience, you can help build a better understanding of the ASMD diagnostic journey and contribute to future work aimed at helping other people reach the right diagnosis sooner.
Some questions ask you to think back to experiences before and around diagnosis, which may bring back difficult or upsetting memories. Please take your time when considering your responses. If taking part raises concerns or causes distress, you may stop the survey at any time and may wish to speak with your healthcare team or contact your local Niemann-Pick patient organisation for information and support.
Responses will be analysed anonymously. Findings may be shared through reports, scientific publications, presentations at scientific meetings and conferences, and educational materials. They may also inform future research and work to support earlier identification of ASMD.
Chiesi will receive only anonymised and aggregated results. No personally identifiable information will be shared with Chiesi. Before beginning the survey, you will be provided with information about how your responses may be used and asked to provide the required consent. Any additional sharing of anonymised and aggregated information will be subject to separate optional consent choices.
If you have any questions about the study or taking part, please contact:
Dr David McMinn
David@mcminn-medical.com
info@inpda.org | 0191 015 0693