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THE CORPORATION’S MISSION IS TO ADVANCE THE AWARENESS, TREATMENT AND CURE FOR NIEMANN PICK TYPE B AND OTHER RARE GENETIC DISEASES AND DISORDERS. THE CORPORATION ALSO INTENDS TO OFFER SUPPORT AND EDUCATION TO INDIVIDUALS, FAMILIES, CAREGIVERS, MEDICAL PROFESSIONALS AND OTHERS WHO ARE IMPACTED BY GENETIC DISEASES AND DISORDERS.
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.
- David Guy
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