Surveys & Market Research
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!
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.
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 email@example.com.
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.
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
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 firstname.lastname@example.org for additional information.
If you would like to contact the research group directly, please call 917-736-1541 or email Jaymin Upadhyay, PhD at email@example.com or Walla Al-Hertani, MD at Walla.Al-Hertani@childrens.harvard.edu.
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.
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.