#RareDisease close-up: Soft Bones Foundation on hypophosphatasia

In Uncategorized by caroline hornby1 Comment

soft bones rare disease patient group The Soft Bones Foundation kindly provided this information on both their association and hypophosphatasia.

Mission Statement: The mission of the Soft Bones Foundation is to provide valuable information, education and support for people living with Hypophosphatasia (HPP), their families and caregivers. The Foundation will also promote research of this rare bone disease through awareness and fund-raising efforts.

History

Soft Bones, Inc. Hypophosphatasia Foundation was organized in 2009 to provide information and to establish a forum to educate, empower and connect patients living with hypophosphatasia (HPP), their families and caregivers. Deborah Sittig founded Soft Bones after her son was diagnosed at just 18 months old. The Sittig family was concerned about the lack of information or anyone to turn to for support and started Soft Bones to connect with patients and medical experts from around the world. In addition to giving families and physicians important information about this rare bone disease, the Foundation's goal is to raise funds to support essential research which will lead to a treatment or cure. With this funding, Soft Bones will be able to implement a grants program to inspire increased HPP research and be the catalyst for the cure. Since its inception, Soft Bones, Inc. is recognized as the main information provider to both patients and caregivers of HPP. Through the organization's website, one will find valuable resources for education and support as well as information on current enzyme replacement research and clinical trials.

What is Hypophosphatasia?

Hypophosphatasia is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase or ALP. . HPP is a condition that affects healthy development of bones and teeth, making bones softer and more likely to fracture. Without this important ALP enzyme, certain chemicals build-up and prevent calcium and phosphorus from binding together and depositing in the bones. As a result, bones can become soft, curved and fragile, and teeth may become loose or fall out prematurely.

The Soft Bones Foundation will be attending the World Orphan Drug Congress USA this April. Register now to meet with them and other leading rare disease patient groups.

Comments

  1. Brenda Baxter

    I do clinical research and have a doctor who is very interested in doing clinical trials for rare diseases of the bones. Do you have access to any sponsors doing clinical trials now or any links that I may be able to access to find out more?

Leave a Comment

Current ye@r *