Surveys, Studies, & Market Research
Surveys, studies, and market research play a critical role in deepening our understanding of the needs and experiences of individuals and families affected by Niemann-Pick disease. Your participation contributes essential data that informs scientific research, guides the development of treatments, enhances support services, and strengthens advocacy efforts across the community.
My Rare Journey™ ASMD Patient Survey
The Invisible Years: Understanding the Journey to an ASMD Diagnosis
Survey for individuals and families affected by Acid Sphingomyelinase Deficiency (ASMD) to explore what happened before and around the time of diagnosis.. The survey will help researchers better understand early signs and symptoms, experiences seeking medical care, challenges that may delay diagnosis, and what ultimately led to a diagnosis.
Who can participate?
- Individuals with ASMD who are age 18 or older
- Parents or caregivers of someone with ASMD who is under 18
- Family members and caregivers of individuals with ASMD who have passed away
What is involved?
- Complete an online survey that takes approximately 15–20 minutes
- Share your experiences leading up to an ASMD diagnosis
- Participation is voluntary, and you may stop at any time
Why participate?
Your experience can help improve understanding of the ASMD diagnostic journey and support future efforts to identify ASMD earlier.
Take the Survey: ASMD Diagnostic Journey Survey | My Rare Journey
Questions?
Dr. David McMinn
[email protected]
Azafaros Recruitment: Phase 3 Clinical Trial NAVIGATE
Azafaros is currently running a Phase 3 clinical trial: NAVIGATE
NAVIGATE is a double-blind placebo-controlled study, investigating the safety and efficacy of one daily oral nizubaglustat, an investigational product designed for the treatment of late –infantile/juvenile forms of Niemann-Pick type C disease and GM1 and GM2 (Tay Sachs and Sandhoff disease). For information on eligibility and co-medication use, please visit navigate.azafaros.com and clinicaltrials.gov/study/NCT07082725
08/12/2026
NIH NPC Caregiver & G-Tube Sub-Study
New study for caregivers of individuals with Niemann-Pick Type C (NPC)
The National Institutes of Health (NIH) is looking for those who care for those with NPC to be in a sub-study looking at gastrostomy tubes (g-tube).
This study will look at g-tubes and what shaped the decision for caregivers to either have one placed in an individual who has NPC. This research study will be remote, with no need to come to the NIH.
To participate in this study, one must:
- Provide consent
- Caregiver of an individual diagnosed with NPC, with significant swallowing dysfunction
- Be able to complete a questionnaire with study team
What is involved?
- Consent review
- Virtual questionnaire with NIH study team
- There is no cost for study-related tests or procedures
Location: Remote
National Institutes of Health (NIH), Clinical Center
9000 Rockville Pike, Bldg. 10, Bethesda, MD
Contact Information:
If you are interested in finding out more about this study, please visit t.ly/knk8E to provide contact information.
08/18/2026
NIH NPC Genomic Sequencing Research Study
New research study for individuals with Niemann-Pick Type C (NPC)
The National Institutes of Health (NIH) is looking for those with NPC to be in a research study looking at the DNA of those with NPC and their medical history.
The study will look at the whole genome, family, and medical history. With this information we hope to gain a better picture of the heterogeneity of NPC, and why it presents differently in individuals. This research study will be remote, with no need to come to the NIH.
To participate in this study, one must:
- Provide consent
- Be diagnosed with NPC
- Provide one time DNA sample (e.g., blood)
- Be able to review medical history with study team
What is involved?
- Consent review
- One time DNA sample
– Blood - Virtual medical history review
- There is no cost for study-related tests or procedures
– Compensation up to $190, in the form debit card, direct deposit, or check may be given after completion of study.
What to expect?
- If family expresses interest, study team will meet with family, virtually, to review consent and medical history
- Study team will work with family local facility and other resources to obtain DNA sample and medical records
Location: Remote
National Institutes of Health (NIH), Clinical Center
9000 Rockville Pike, Bldg. 10, Bethesda, MD
Contact Information:
To find out more about this study, please contact Derek Alexander by phone at 301-827-0387 or by email at [email protected].
08/18/2026
Niemann-Pick Type C Brain Imaging Research Study
Dr. Jaymin Upadhyay and his team at Boston Children’s Hospital are leading a research study to better understand NPC through advanced brain imaging and non-invasive assessments.
Who is eligible?
Patients diagnosed with Niemann Pick Type C (NPC) or healthy individuals.
What does the study involve?
During this study, we will ask you to complete questionnaires, cognitive tasks, motor tasks, give a blood sample, perform tasks via a functional near infrared spectroscopy (fNIRS) tool, undergo muscle integrity and healthy assessment through a non-invasive measure called electrical impedance myography (EIM), and undergo
MRI.
The study visit will last approximately 7 hours divided over two days. Participation in this research will not alter or interfere with any of the standard clinical procedures or treatment that one would normally receive if not partaking in this research. All research studies will take place at Boston Children’s Hospital or McLean Hospital.
What if I live out of town, can I still participate?
Yes! If an NPC patient lives outside of the Boston metropolitan area, our lab can help coordinate your visit to Boston or do a study visit in the comfort of your own home with our bed-side technologies. We will also provide reimbursement up to $1000 for travel-related expenses.
Will I get paid to be a part of this study?
An NPC patient or healthy subject who participates in this study visit will be paid $150. Those only undergoing bed-side assessments (no MRI) will be paid $75.
For study information, please contact:
Jaymin Upadhyay, PhD
917-736-1541
[email protected]
Raquel vanGool
617-301-0920
[email protected]
Additional Research Study Information
08/13/2025
ASMD Accelerate
Just over a year ago, Wylder Nation and NNPDF partnered together to launch ASMD Accelerate to support the ASMD research community. To date, we’ve had 15 contribute their child’s de-identified medical data in support of ASMD research!
If you are interested in joining ASMD Accelerate and making a difference in the future of ASMD research, we are still enrolling new members.
This research study is a way your child’s journey can contribute to ASMD research without the need for travel, lab testing, or physical record collection coordination. Additionally, if your child’s journey with ASMD has ended this study can help carry on their legacy and contribute to improving the future of ASMD care.
Signing up for ASMD Accelerate takes less than 10 minutes and PicnicHealth will do the hard work of collecting your child’s records on your behalf. Let us know if you have any questions!
Visit picnichealth.com/asmd-wylder-nation or email [email protected] with any questions.
NPC Quality of Life Research Project
Important research project into quality of life in people with NPC.
NNPDF is reaching out to our NPC Community with a request for help with a PhD research project exploring how we measure quality-of-life in people living with NPC.
Jackson Pountney is a PhD student at Aston University in Birmingham, UK, who is undertaking this research. For this project to be successful, we need as many NPC patients and families as possible to fill in some questionnaires that look at quality-of-life and general health. They should take about 20 minutes to complete.
This research is being supervised by Dr. Rebecca Knibb at Aston University. Dr. Knibb is an Associate Professor in psychology and has a history in Niemann-Pick disease research.
The work is funded by Niemann-Pick UK, the National Niemann-Pick Disease Foundation, the International Niemann-Pick Disease Alliance, and the International Niemann-Pick Disease Registry.
You can help by completing questionnaires in the INPDR Patient Reported Database (PRD). By joining the PRD, not only will you provide data for Jackson’s PhD, but you will also be contributing data that can support other research projects around the world.
Visit registry.inpdr.org/insight/prd/ or scan the QR code to join. Learn more about this project.
By having as many community members joining the PRD and completing questionnaires by this date, we can ensure this project is successfully completed.
If you have questions about Jackson’s project please email [email protected] and if you have questions about the PRD, please email [email protected].
Thank you for your support.