Clinical Trials

Studying ENPP1 Deficiency and ABCC6 Deficiency

We are enrolling patients with ENPP1 Deficiency or ABCC6 Deficiency (PXE) in the first clinical trials for a potential new treatment. With your participation, we can better understand this disease and help inform possible future treatment options.

The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency

Study Overview

Brief Summary

The primary purpose of Study INZ701-106 (The ENERGY 3 Study) is to assess the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.

Detailed Description

Study INZ701-106 (The ENERGY 3 Study) is a multi-center, randomized in a 2:1 ratio, controlled, open-label Phase 3 study to evaluate the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.

The study will consist of a Screening Period of up to 52 days (including a washout period of up to 7 days for prohibited medications post-Randomization) and a Randomized Treatment Period (INZ-701 or control) of 52 weeks, followed by an Open-label Extension Period during which all study participants may receive INZ-701, and an End of Study (EOS) Safety visit 30 days after the last dose of INZ-701.

Study participants must meet all of the following inclusion criteria:

  • Caregiver's written or electronic informed consent after the nature of the study has been explained, and prior to any research-related procedures, per International Conference on Harmonisation (ICH) Good Clinical Practice (GCP)
  • Study participant's assent in accordance with local regulations
  • A confirmed postnatal molecular genetic diagnosis of ENPP1 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) certified laboratory or regional equivalent
  • Males and females ≥1 year and <13 years of age at Study Day 1
  • Open growth plates of the distal femur and proximal tibia in both legs
  • Plasma PPi concentration of <1400 nM at Screening
  • 25-hydroxyvitamin D (25[OH]D) levels of ≥12 ng/mL at Screening
  • Radiographic evidence of skeletal abnormalities based on an RSS ≥2
  • Female participants of childbearing potential must have a negative serum pregnancy test at Screening and must not be breastfeeding
  • Study participants of childbearing potential who are sexually active must agree to use a highly effective form of contraception in accordance with Clinical Trials Facilitation and Coordination Group (CTFG) guidance and local guidelines for the duration of the study
  • In the opinion of the Investigator, able to complete all aspects of the study

Exclusion Criteria

Study participants meeting any of the following exclusion criteria will not be eligible to participate in the study:

  • In the opinion of the Investigator, has clinically significant disease or laboratory abnormality not associated with ENPP1 Deficiency that will preclude study participation and/or may confound the interpretation of study results
  • If receiving any of the following prohibited medications as indicated in the protocol: systemic corticosteroids (>5 mg prednisone equivalent per day), anti-fibroblast growth factor 23 (FGF23), and oral and/or IV bisphosphonates
  • Unable or unwilling to discontinue calcitriol or other active forms of vitamin D3 (or analogs) within 7 days prior to Study Day 1 and/or oral phosphate supplements within 36 hours prior to Study Day 1 if randomized to the INZ-701 arm
  • Planned orthopedic surgery that may confound the interpretation of study results during the 52-week Randomized Treatment Period
  • Known intolerance to INZ-701 or any of its excipients
  • A positive COVID-19 test within 5 days prior to Randomization, only if required as per local regulations or institutional policy
  • Previous treatment with INZ-701
  • Concurrent participation in another interventional clinical study and/or has received an investigational drug within 5 half-lives of the last dose or within 4 weeks prior to Randomization, whichever is longer, or use of an investigational device
See additional enrollment criteria

Find a Study Site


Cook Children’s Medical Center

Fort Worth, TX, 76104
Principal Investigator: Dr Joel Steelman  682-885-1951
Contact: Tiffany Skrodzdki,  RN  682-885-1951
Contact: Kelsey McLaughlin, RN  682-885-1951
Contact: Donna de la Guardia, CRC  682-885-1951

Boston Children's Hospital

Boston, MA 02115
Principal Investigator: Christina  Jacobsen  617-355-7476
Contact: Andrea Hale  617-919-2867
Contact: Alayna Dutcher  617-355-0741

The Children's Hospital of Philadelphia (CHOP)

Philadelphia, PA, 19146
Investigator: Dr. David Weber
‍Contact: Max Krumpholz  267-432-0511
Contact: Rachel Walega  267-586-5969

Ann & Robert H. Lurie Children's Hospital

Chicago, IL, 60611
Principal Investigator: Dr. Jenny Miller  312-227-6090
Contact: Madeleine Muller  312-227-8290
Contact: Sarayu Ratnam  312-227-6617

Children's Hospital Colorado

Aurora, CO,  80045
Principal Investigator: Nina  Ma  720-777-0780
‍Contact: Matt Brien
Contact: Beni Garcia

Centre Hospitalier Universitaire (CHU) Sainte-Justine

Montreal, Quebec, H3T 1C5
Principal Investigator: Dr. Nathalie Alos  514-345-4931
‍Contact: Michna Alphonse  514-345-4931 x3637‍
Contact: Muriel Marie  514-345-4931 x3728

Royal Manchester Children's Hospital

Manchester, United Kingdom, M13 9WL
Principal Investigator: Amish Chinoy
Contact: Annie Tariq  0161 701 8558

Planned Future Sites:
  • Nationwide Children's Hospital
  • Al Jalila Children’s Hospital Dubai, UAE
  • Umraniye Training And Research Hospital Istanbul, Turkey
  • Hôpital Bicêtre Paris, France
  • Hospital San joan de Deu, Barcelona, Spain
  • Queensland Children’s Hospital, South Brisbane, Australia
  • Cukurova Universitesi Tip Fakultesi, Adana, Turkey
  • King Faisal Specialist Hospital and Research Centre, Saudi Arabia