Treatment Options

Understanding Treatment Approaches for ENPP1 Deficiency (GACI Type 1 and ARHR2), and ABCC6 Deficiency (GACI Type 2)

While there is currently no known cure for ENPP1 Deficiency or ABCC6 Deficiency, a combination of medical treatments and supportive care is helping patients live longer, healthier lives. For those affected by GACI (Generalized Arterial Calcification of Infancy) and ARHR2 (Autosomal Recessive Hypophosphatemic Rickets Type 2), treatment options aim to manage symptoms, improve quality of life, and, in some cases, slow the progression of complications.

This page provides an overview of available treatment options, promising research, and where to find additional help and resources.

GACI Treatments: Managing Arterial Calcification and Cardiovascular Risk

GACI (both Type 1 and Type 2) most commonly presents in infancy and is characterized by calcium buildup in large- and medium-sized arteries. This calcification can restrict blood flow and lead to life-threatening complications if not addressed quickly. It is critical to have proper testing done to determine an accurate diagnosis before treatment.

Treatment strategies for GACI often include:

  • Bisphosphonates: These medications are used off-label to help reduce vascular calcification. While their effectiveness varies, some patients have experienced improvement or stabilization.
  • Blood Pressure Medications: Controlling blood pressure is essential in managing the cardiovascular complications associated with GACI.
  • Anticoagulants: In some cases, these may be used to reduce the risk of blood clots associated with vessel narrowing.

It’s important to note that these treatments aim to support the body and manage symptoms—they do not cure the underlying genetic condition.

In rare and highly specific situations, vascular surgeries or interventional procedures may be performed to relieve blockages caused by severe calcification. These procedures are complex and must be evaluated on a case-by-case basis by a multidisciplinary care team.

ARHR2 Treatments: Supporting Bone Health

As children with ENPP1 Deficiency age, many develop ARHR2, a form of rickets caused by phosphate imbalance. This can lead to bone deformities (bowing of the legs or knock knees), bone pain, delayed growth, and fractures.

Treatment options include:

  • Phosphate Supplements: Taken several times daily to raise phosphate levels in the blood.
  • Activated Vitamin D (Calcitriol or similar medications): Helps enhance phosphate absorption and supports healthy bone development.
  • Surgical Correction: In some children, orthopedic surgery may be recommended to correct severe bone deformities caused by rickets.

These treatments require close medical supervision and regular monitoring to balance effectiveness with potential side effects, such as kidney issues or calcium-phosphate imbalance.

Research: Hope for the Future

While no treatment today can cure ENPP1 Deficiency (GACI Type 1 / ARHR2) or ABCC6 Deficiency (GACI Type 2), research into new therapies are bringing hope to our community.

One of the most promising advances is INZ-701. INZ-701 is designed to replace the missing enzyme, potentially addressing the root cause of both GACI and ARHR2. Early trial results showed encouraging safety and biological activity, but more research is needed.

You Are Not Alone: Get Support

Navigating treatment decisions can be overwhelming. We encourage you to connect with other families, caregivers, and medical experts who understand the challenges of living with ENPP1 Deficiency and ABCC6 Deficiency. Whether you’re looking for advice or support, our community is here to help.

Visit our Support page to find emotional support, connect with other families, and explore helpful resources.