We're committed to improving the lives of patients who suffer from the effects of ENPP1 or ABCC6 Deficiencies and have limited or no effective treatment options.
Review the patient resources below and learn how you can participate as part of the solution in our ongoing clinical trials.
If you need additional assistance, please speak with your healthcare provider or contact us.Contact us
Inozyme provides a global no-cost genetic testing program in partnership with with PreventionGenetics to improve detection and understanding of two rare genetic diseases, ENPP1 Deficiency and ABCC6 Deficiency. Genetic testing can help patients and their health care providers make more informed decisions about these rare conditions.
Together with your HCP, determine if you meet eligibility requirements for a no-cost genetic test through this program. Your HCP will order the test.
Genetic test is administered, and processed at a 3rd party genetic laboratory.
Results are sent to your HCP typically within 2-3 weeks.
You will discuss results and treatment options with your HCP.
GACI Global is a nonprofit organization whose mission is to connect families affected by generalized arterial calcification of infancy (GACI) or hypophosphatemic rickets (ARHR2) caused by ENPP1 or ABCC6 Deficiencies to each other and to the medical community. The organization strives to provide current educational resources and supports ongoing research. GACI Global is circulating hope.Visit Gaciglobal.org
Hope for GACI was founded by the parents of Natalie Van Wyk, a GACI survivor. The mission of the organization is to raise awareness about the condition and to provide families of GACI babies with hope and to let them know that they are not alone. The organization provides information about GACI, biographies of noted GACI researchers, and links to relevant articles from respected medical journalsVisit Hopeforgaci.org
The mission of the XLH Network is to promote XLH awareness and education for affected families, medical professionals, and the community at-large; to support physicians and other providers of medical care for better diagnosis and treatment; to create resources and a community for affected individuals and their families so they can understand and cope with the complications of the disease; and to foster the search for a cure. The organization provides basic information about XLH, including several flyers and infographics. They also manage a patient registry and offer information about clinical trials.Visit xlhnetwork.org
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 280 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.Visit rarediseases.org
Their vision is to enable better lives and cures for people living with a rare disease. Their mission is to work across borders and diseases to improve the lives of people living with a rare disease. They offer information about rare diseases and networking opportunities.Visit eurordis.org
Global Genes’ mission is to eliminate the challenges of rare disease: build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.Visit globalgenes.orG
The Rare Disease Foundation is focused on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focused research projects from disease characterization to treatment with greater efficiency.Visit rarediseasefoundation.org
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAnumber), essential in improving the visibility of rare diseases in health and research information systems.Visit orpha.net
PXE International was founded in 1995 to promote research and support individuals affected by pseudoxanthoma elasticum (PXE). We work on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians, and supporting individuals.Visit pxe.org
The Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE) is a non-profit making charitable trust, founded in 1984 by Elspeth Lax and run entirely by unpaid volunteers. You can read about how PiXiE was founded and gain some insight into how it has grown.Visiti pxe.org.uk