Niemann-Pick Disease
What is Niemann-Pick Disease?
Niemann-Pick Disease is an autosomal recessive disorder affecting lipid metabolism in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
Synonyms
- Acid Sphingomyelinase Deficiency (Niemann-Pick Type A&B_
Niemann-Pick Disease is an autosomal recessive disorder affecting lipid metabolism in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
2.5http://www.orpha.net
| Name | Abbreviation |
|---|---|
| Acid Sphingomyelinase Deficiency (Niemann-Pick Type A&B_ | ASMD |
Last updated 29 Jul 2018, 07:58 PM
29 Jul 2018, 07:58 PM
Little Osama's family has been flying him to Chicago every two weeks to receive experimental treatments for his Niemann-Pick Type C. Read his story here.
Has anyone else had experience with spinal infusions for Niemann-Pick?
| Title | Date | Link |
|---|---|---|
| Niemann-Pick Disease: Reno twins with rare, fatal disease will be on CNN show "Something's Killing Me" | 08/17/2018 | |
| Sanofi Sees Positive Results in Two Clinical Trials for Niemann-Pick Disease | 02/02/2020 | |
| Getting a Treatment Is Not the End of the Road in Rare Diseases | 09/06/2020 | |
| Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease | 09/19/2020 | |
| Devastated mum loses all three kids to rare disease found in just 110 people in UK | 02/21/2021 | |
| Push to spur more drugs for deadly rare diseases | 03/07/2021 | |
| ‘There’s so much uncertainty’: As Mallinckrodt sells rare disease drug, parents worry about access | 05/21/2021 | |
| Drug Development for Rare Diseases is Littered with Regulatory Roadblocks | 08/21/2022 | |
| Sanofi, after long research journey, wins FDA approval for rare disease drug | 09/02/2022 | |
| 3 of 4 children in a Molalla family have rare progressive disorder | 08/12/2023 | |
| My son’s rare disease was renamed ASMD. Why are people still calling it Niemann-Pick? | 11/08/2024 | |
| New insights into Niemann-Pick type C: A form of childhood dementia | 12/06/2024 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Community Leaders
Expert Questions
Ask a question
Community User List
Start a Community
Don't See Your Condition On Rareshare?
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
FAQ
Have questions about rareshare?
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Discussion Forum
Spinal Infusions for Niemann Pick
Created by RareshareTeam | Last updated 29 Jul 2018, 07:58 PM
Our Communities
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.
FIND YOUR COMMUNITY
Our Resources
Our rare disease resources include e-books and podcasts
Our Community Leaders
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.