The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are committed to finding a cure for Niemann-Pick disease.

Our primary goals are to:

• Promote medical research into the cause of NPD in order to eventually find a cure;
• Provide medical and educational information to assist in the correct diagnosis and referral of children with NPD;
• Provide support to families of NPD patients;
• Facilitate genetic counseling for parents who are known carriers of NPD;
• Encourage the sharing of research information among scientists;
• Support legislation that positively affects patients and families with NPD.

We invite all interested people and organizations to join the NNPDF and support its efforts to accomplish these goals. The Foundation's services depend heavily on volunteer activities - from membership dues and local fund raising to conference hosts and Newsletter contributors to the Board of Directors.

Membership in the Foundation starts at $20 annually. You can contact the NNPDF Office for more information.

Organizational History
On February 10, 1992, several parents of children suffering from Niemann-Pick disease met at the National Institutes of Health at Bethesda, Maryland. Concerned with cutbacks in funds for medical research, knowing without research there was little hope for their children, they decided to form a foundation.

The Niemann-Pick Type C Foundation, Inc. was established with missions and purposes consistent with the goals listed above. By-laws were drafted and a board of directors was selected. Service activities began immediately and the first year saw many accomplishments.

• A Newsletter offering information and support was sent out
• A Directory of NPC families was compiled and distributed to the families
• An informational pamphlet was written and mailed to hundreds of support professionals and organizations in the medical field to create awareness of this rare disease.
• Fundraising began with most of the money raised being channeled into medical research. Operating expenses were generally donated by Board members.

In June of 1992, a paragraph was drafted for inclusion in the Appropriations Bill for the U.S. Federal Budget. This was an extremely important step for the furtherance of NPC awareness and funding, for this was the first time in history that NPC had been included in this report. This step assured continued funding for NPC at the federal level.

The same year, a Scientific Advisory Board of doctors and researchers was established. On the recommendation of the Scientific Advisory Board, the name of the foundation was changed to the National Niemann-Pick Disease Foundation, Inc. (NNPDF) to include all forms of Niemann-Pick Diseases in our foundation.

1993 was another busy year. The Foundation was granted a nonprofit status and issued 501(c) (3) status by the U.S. Internal Revenue Service, the First Annual Family Conference was held, and the first research grant was awarded to Dr. Eugene Carstea to identify the genetic cause of NPC. Dr. Carstea announced the discovery of the NPC1 gene four years later.

All of these services were continued and enlarged over the years. The Newsletter is now published three times a year and has separate versions for families and contributors. The number of research grants has increased as more funds became available - seven grants were awarded in 2000. Research grants focus on proof of concept studies which, if successful, provide the scientific basis for expanded funding by NIH, drug companies, or large foundations.

The Family Conference has also grown over the years, both in attendance and in content. Top researchers discuss the latest scientific advances and local medical professionals lead sessions on support and treatment issues of interest to families. Both the NPC1 gene discovery and the clinical trial for OGT-918 (a potential treatment) were announced at NNPDF Family Conferences. In 1998 separate sessions for individuals with NP Type B were featured for the first time. These sessions are now a regular part of the conference. The 2001 Conference saw a record attendance of 180 people.

The same year NPC1 was discovered, the Foundation website was created. The website has grown to over 100 pages, with an email discussion list and chat room available for use by all persons interested in Niemann-Pick. The discussion list has over 150 members and is used daily by families to ask questions, share advice, and to provide support for each other.

Present Status
The National Niemann-Pick Disease Foundation currently has over 200 Niemann-Pick families as members. Thousands of medical, corporate, professional, friend and family sponsors assist in supporting our goals through contributions and donation of services. NNPDF has close ties with other Niemann-Pick foundations, allowing for efficient planning for research.

Today, most Board members continue to be families with children afflicted with NPD who work on a volunteer basis. Fund raising has increased tremendously but most of the money is still raised a result of NPD families working on a local basis.