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Surveys, Studies, & Market Research

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 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 and if you have questions about the PRD, please email

Thank you for your support.

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 or email with any questions.

Infant NPC Trial and Study Now Recruiting

Phase 1/2a Study of 2-Hydroxypropyl-β-Cyclodextrin Therapy for Infantile Liver Disease Associated with NPC

Purpose of the Study:
The purpose of the study is to learn how well Adrabetadex can reduce liver damage in infants diagnosed with NPC disease.

Who will be enrolled?
Infants 6 months old or less with diagnosed NPC disease and evidence of liver disease are eligible to be screened for the trial.

What is involved if I participate?
The study has an initial 6-week phase during which the study participant will receive twice-weekly intravenous administration of the Adrabetadex drug. If there is evidence of clinical response, the participant is eligible to continue treatment for an additional 6 months.

Who is funding the study?
The National Institute of Child Health and Human Development of the National Institutes of Health

Who is the sponsor?
Patricia Dickson, MD

Who is the principal investigator (pi)?
Barbara Warner, MD

Where will the study take place?
St. Louis Children’s Hospital at Washington University Medical Center

Who do I contact for more information?
Patricia Dickson, MD
314-273-2943 |

Barbara Warner, MD
314-454-2683 |

Laura Linneman, RN
Research Nurse Coordinator
314-454-4950 |

More information can be found on



IntraBio Patient & Caregiver Advisory Meeting Opportunity

NNPDF is pleased to share the following Patient & Caregiver Advisory Meeting opportunity on behalf of IntraBio. NNPDF will be compiling application information and will submit eligible participants to IntraBio for potential inclusion in the upcoming patient and caregiver advisory meeting.

IntraBio is developing the novel drug N-acetyl-L-leucine (IB1001) for Niemann-Pick disease type C (NPC). The New Drug Application (NDA) has been submitted to the US Food & Drug Administration (FDA).  

The insights of parents, caregivers, and patients have been invaluable throughout the IB1001 development program. As IntraBio progresses towards potential approval and commercialization, these insights are deeply valued.

IntraBio is establishing a Patient & Caregiver Advisory Meeting for:

  • NPC patients age 18 and older
  • Parents of living NPC patients age 4 years and older
  • Spouses of NPC patients
  • U.S. residents only

Your valuable feedback will help guide IntraBio through this pivotal stage, ensuring that patient and family perspectives remain central as preparations are made for potential approval and commercialization.

NNPDF is collecting applications for potential participation. Participation is limited. Upon acceptance, you will be asked to participate in a single two-hour virtual (online) meeting, bringing your NPC experience and ensuring that the patient and caregiver voice remains central to the planning.

Time Commitment: One 2-hour meeting via Zoom on one of the following dates listed below. (There may be a potential for additional meetings.)

  • Monday, March 4 from 12:00 – 2:00pm ET
  • Wednesday, March 6 from 12:00 – 2:00pm ET
  • Friday, March 8 from 12:00 – 2:00pm ET

Paid Expenses: $150 per hour for attendance and participation in the IntraBio Patient & Caregiver Advisory Meeting ($300 honorarium for 2 hour commitment).

Application deadline is February 15, 2024

ASMD Feedback Interview Opportunity

Share Your Experiences with ASMD/Niemann-Pick Disease​

Pinpoint Patient Recruiting, a market research recruitment company, is searching for people who have been diagnosed with Acid Sphingomyelinase Deficiency (ASMD) (also known as Niemann-Pick) as well as their caregivers, to participate in a 60-minute online interview about their experiences. The information gathered in these interviews will be used to improve the diagnosis and treatment experiences for others living with ASMD/Niemann-Pick.

If you or someone you care for has been diagnosed with ASMD, you may be eligible to participate. Anyone who qualifies for and completes the virtual interview will receive $125 as a thank you. All participants must be ages 18 or older and live in the US. All responses will remain confidential.

To see if you qualify for the study or to get more information, please visit or contact Julie Knell at

NPC Sibling Study

NNDPF, APMRF, Firefly Fund, and NP Canada have chosen to partner with the International Niemann-Pick Disease Registry (INPDR) moving forward and to continue the NPC sibling study through the INPDR. The INPDR is the Niemann-Pick specific patient registry which is led and governed by the Niemann-Pick community. We are recommending that all NPC families who have shared their loved one’s data with AllStripes have their data transferred to INPDR. This is completely voluntary and each family’s decision is respected. We have worked with AllStripes and the INPDR to ensure that this is a user-friendly and fairly simple process for families.

For information on how to easily share you loved one’s records with the INPDR, or if you have any questions, please contact us at

Acid Sphingomyelinase Deficiency (ASMD) Patient Experience with Olipudase Alfa Survey

The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The International Niemann-Pick Disease Alliance (INPDA), National Niemann-Pick Disease Foundation, Inc. (NNPDF), and Niemann-Pick UK (NPUK), who are dedicated to supporting and empowering individuals and families affected by Niemann-Pick disease, through education, collaboration and research. The purpose of the survey is to increase understanding of the impacts of olipudase alfa on adult ASMD patients and their families.

This survey is part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients which will explore the questions in this survey in more depth. Interviews will be conducted by Rare Disease Research Partners (RDRP). If you are interested in taking part in an interview, please register your interest within the “Participation in interviews” section of the survey and you will receive further information.

If you are aged 18 years and over, fluent in English (including non-native English speakers), are able to give informed consent, have a confirmed diagnosis of ASMD, and have received olipudase alfa as either an experimental or approved therapy for ASMD, please proceed and click the link below to access the survey.

The survey will take about an hour to complete. An informed consent is provided at the beginning of the survey prior to answering any survey questions. This informed consent will provide you more information about the survey such as the purpose, your involvement, benefits, risks and discomforts, confidentiality, and what will happen to the results of the survey.

If you or someone you know are interested in participating, learn more and take the survey here.

NPC Clinical Severity Scale (NPCCSS)

Are you an individual with NPC or the dedicated caregiver of an NPC patient? Are you 18 years old or above? We invite you to join an exclusive interview study! Your valuable insights will help enhance a questionnaire that assesses the severity of symptoms in NPC patients.

As a token of appreciation, you will receive a $10 Amazon gift voucher for your time and contribution! Rest assured, this study has obtained ethical approval from Aston University and is part of an ongoing PhD project.

To learn more, simply click this link: or reach out to Jackson Pountney via email at

Help Us Better Understand ASMD/Niemann-Pick Disease

Pinpoint Patient Recruiting, a market research recruitment company, is searching for people living with ASMD, as well as caregivers of people living with ASMD, to participate in a series of paid market research opportunities. The objective of the opportunities is to better understand the experiences of people living with ASMD, as well as their caregivers, and help improve their quality of care. The activities can be done from home at a date/time that is most convenient for you. See below for more details! All participants must live in the US.

Who can participate?

  • Adults (age 18+) living with ASMD OR
  • Adults (age 18+) caring for someone (age 4+) who has ASMD

What will I be asked to do?

  • The opportunity includes a 15-minute online survey and 60-minute online interview. Those who qualify for and complete the activities will receive $160 for their time.
  • Optional: After the interview, participants will be invited to complete an optional series of 3 digital diary exercises, over the course of a week, designed to better understand participants’ experience with ASMD. Those who complete the diary exercises will be compensated an additional $144 for their time.

If you would like to participate or learn more information, please visit or email Jenny Fowle at

Quality of life experience in patients with Niemann-Pick disease Type C during the COVID-19 pandemic

Are you an adult who has been diagnosed with Niemann-Pick disease type C (NPC) or the parent/caregiver of someone who has been diagnosed with NPC? If so, we would like to invite you to take part in our research study looking at quality of life in those with NPC.

It will involve an interview via Microsoft Teams, Skype, Zoom or telephone where we ask you questions regarding quality-of-life experience and Niemann-Pick disease type C (NPC). We are particularly interested in the impact of diagnosis, treatment (if applicable) and the COVID-19 pandemic on the experience quality of life in Niemann-Pick disease patients. The interview should last no longer than one hour.

Learn more about this study.

ASMD Community Survey

As olipudase alfa moves through the regulatory process, we are proactively preparing for the next steps, which include speaking with insurance companies and ensuring reimbursement and coverage for patients across the country.  To help us better understand our ASMD population, can you please take a moment to complete the following brief survey?

This survey will close on Monday, July 11, 2022.

For assistance or any questions, please contact

Take the survey.


Characterization of Central Manifestations in Niemann-Pick Type C Disease

Boston Children’s Hospital currently seeking participants for a focus group.

Research Study Title: Characterization of Central Manifestations in Niemann Pick Type C Disease

What is the purpose of the focus group?
We are aiming to perform a study involving adult patients with Niemann-Pick Type C (NPC) to better understand causes of neurological dysfunction in this illness. The focus group is meant to help us learn about the neurological and psychiatric symptoms that affect NPC patients and their families as well as determine what elements of their disease are important for patients to understand more about or find treatments for. Additionally, we hope that these conversations can help us assess feasibility of performing certain studies in patients with NPC.

The investigators will ask you and the other people in the focus group to use only first names during the group session. They will also ask group members not to tell anyone outside the group what was said during the focus group discussion.  However, the investigators cannot guarantee that everyone will keep the discussions private.

Who can participate?
Patients with NPC and their family members or caregivers.  All participants must be over the age of 18 years.   

Where is the focus group being conducted?
Virtually, via secure Zoom video and audio conferencing.

What do I have to do if I’m in the focus group?
We will ask questions about your experience with NPC and ask for your insight into the feasibility of our study. Information you wish to share only with the study team can be communicated outside of the focus group and will be kept confidential. Furthermore, sharing of personal health information is not needed to be part of the focus group.    

What is the time commitment for the focus group?
We anticipate that the conversation will take approximately 45-60 minutes.

What are the benefits of the focus group?
In addition to helping the study staff learn more about aspects of living with NPC and assessing feasibility of the study, we hope that the focus group will be an opportunity for participants to interact with other members of the NPC community.

What are the risks of the focus group?
There is a risk that the identity of anyone participating in the focus group will become known to other participants and the investigators carrying out the focus group.

What will I receive from participating?
Compensation or other incentives will not be offered for participating in the focus group, but is provided for the in-person studies we are conducting.

Focus Group Information Sheet

This research is being conducted by: Jaymin Upadhyay, PhD and Walla Al-Hertani, MD

For additional information regarding this focus group and study, please contact:

Jaymin Upadhyay, PhD
Assistant Professor
Department of Anesthesiology, Critical Care and Pain Medicine
Boston Children’s Hospital, Harvard Medical School
Phone: (917) 736-1541

Walla Al-Hertani, MD, MSc, FRCPC, FCCMG, FACMG
Assistant Director of the Metabolism Program
Director of the Lysosomal Disorders (BoLD) Program and the Glycogen Storage Diseases Program
Division of Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School, Boston Children’s Hospital


Niemann-Pick Type C Brain Imaging Research Study

NNPDF has been asked to share the following information regarding a Niemann-Pick Type C Brain Imaging Research Study at Boston Children’s Hospital under the research group of the Division of Genetics and Genomics, Department of Medicine, and Department of Anesthesiology, Critical Care and Pain Medicine.

Who is eligible?
Currently, the research study is for adults with NPC. Ideally study visits will be completed in March or April 2022.

What does the study involve?
Participants will be asked to complete questionnaires, cognitive tasks, motor tasks, blood samples and undergo an MRI. The study will take approximately 2-3 hours.

I do not live in Boston – can I participate?
Yes, the study lab will help coordinate your visit to Boston and will provide travel reimbursement up to $500 for travel related expenses.

Will I get paid to be a part of this study?
Yes, NPC patients who participate in this study will be paid $150.

How can I get more information?
Contact Laurie Turner, Family Services Manager at 920-542-4038 or email for additional information. 

If you would like to contact the research group directly, please call 917-736-1541 or email Jaymin Upadhyay, PhD at or Walla Al-Hertani, MD at

Additional Research Study Information


NNPDF Community Survey

We invite you to take part in a brief survey to highlight some of the key issues that are important to members of the Niemann-Pick community. Your responses will help NNPDF develop a better understanding of the issues that are most important to you and your family. Responses will be used to help NNPDF identify the priorities and areas of unmet need in planning for development of new support programs and resources for families at every stage of the Niemann-Pick journey.

In addition to your response, we also invite you to share your thoughts regarding our programs and services and how we can best meet your needs in the months and year ahead. Survey closes on July 4th, 2022.

Take the survey.


AllStripes NPC Research Program

NNPDF is excited to partner with the Firefly Fund, Niemann-Pick Canada, the Ara Parseghian Medical Research Fund and AllStripes to create a research database that will power multiple NPC research studies. The first study will explore early diagnosis and intervention. We hope to use the data to advocate for adding NPC to newborn screening programs. To move this research forward, we are looking for families of 40 sibling pairs with NPC willing to contribute their de-identified medical records.
Learn how you can help.


An important research opportunity for ASMD patients and families

With recent clinical trials comes the hope of new therapies for the treatment of ASMD. If proven to be safe and effective, access to these depends on the outcome of regulatory decisions. To ensure decision makers have an accurate understanding of how ASMD affects the lives of patients and their families, NNPDF is inviting you to share your unique insights through this survey.

The survey is open to those who have participated in the pediatric ASCEND-PEDS trial for Olipudase Alfa or subsequent the managed access program and

  • are fluent in English (including non-native English speakers) and
  • have a confirmed diagnosis of ASMD or are the parent or carer of a person with a confirmed diagnosis of ASMD

Further information can be found in this information sheet.

By participating, you will have the opportunity to input into the decision making process by contributing to global research that demonstrates the impact of ASMD and facilitates the evaluation of therapies now and in the future.

At this critical time for our community, your participation will help us to understand and communicate the patient’s perspective of ASMD, its impact on that person and their family plus their views and experience of current and future treatments. It will help us to advocate for access to new and existing treatments in the US and around the world and provide evidence to support further research.

Supporting one another. Supporting our community.