Description
The goals of the organization are:
- Provide financial support (assistance with living expenses: mortgage, heating, electricity, etc.) to patients and their immediate families inflicted with Niemann Pick Type B or other rare genetic diseases whose active participation in a clinical trial treatment or cure creates a financial burden for the patient or family.
Often clinical trials for rare disease are held at 1 site in the US. As for Niemann Pick Type B, participants must be at the trial site bi-weekly for one year. This may create a financial burden on participants and families, and may lead to patients not participating in the trial. For rare diseases, participation is critical for all eligible patients for potential drug approval.
- Subsidize genetic testing for at risk populations.
- Help building awareness among the medical community.
Niemann Pick Type B is inherited from both parents and causes the enzyme sphingomyelinase to be deficient. As a result, fatty lipids that are not broken-down by the deficient enzyme build up in the spleen, liver, lungs, and, in some cases, the brain causing cell death and the malfunction of major organ systems. A treatment has been in clinical trials since 2006.
