Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency

NCT05050669 | Completed

• 1 other identifier: INZ701-003
• Study Type: observational
• Target: 12
• Locations: 3 countries
• Sites: 5

Brief Summary

The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally. The study will prospectively gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes) of each disease.

Conditions

Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency; ATP-Binding Cassette Subfamily C Member 6 Deficiency; Generalized Arterial Calcification of Infancy; Autosomal Recessive Hypophosphatemic Rickets

Keywords

ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency; ENPP1; ATP-binding cassette subfamily C member 6 deficiency; ABCC6; Generalized Arterial Calcification of Infancy; GACI; Autosomal Recessive Hypophosphatemic Rickets Type 2; ARHR2; hypopyrophosphatemia

Outcome Measures

Primary Outcomes (5)

• Measurement of Plasma Inorganic Pyrophosphate (PPi) in Plasma

  For each subject, blood plasma will be assayed for Plasma Inorganic Pyrophosphate (PPi), comparing the subjects baseline value over time

  Up to 12 months

• Determination of Arterial Calcification

  For each subject, occurrence of arterial calcification will be examined

  Up to 12 months

• Determination of Organ Calcification

  For each subject, occurrence of organ calcification will be examined

  Up to 12 months

• Determination of skeletal radiographs

  For each subject, skeletal radiographs will be obtained to determine skeletal abnormalities and will be compared to baseline

  Up to 12 months

• Determination of range of motion

  For each subject, aged 4 to \<18 years, range of motion will be assessed comparing to subjects baseline over time

  Up to 12 months

Interventions

No Intervention for this observational study OTHER

No Intervention for this observational study

Eligibility Criteria

• Age: 2 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study will enroll all eligible subjects aged 2 to \<18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency who consent to participate, with the goal of recruiting up to 20 subjects.

You may qualify if:

• Must provide written consent of the legally authorized representative/caregiver and assent for subjects after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site
• Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency
• Male or female, aged 2 to \<18 years
• In the opinion of the Investigator, must be willing and able to complete all aspects of the study
• Agree to provide access to relevant medical records

You may not qualify if:

• \. In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease

Sponsors & Collaborators

• Inozyme Pharma: lead

Study Sites (5)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

CHOP - Robers Center for Pediatric Research

Philadelphia, Pennsylvania, 19146, United States

Location

Cook Children's Hospital

Fort Worth, Texas, 76104, United States

Location

CHU Sainte-Justine

Montreal, Quebec, H3T 1C5, Canada

Location

Royal Manchester University Hospital

Manchester, M13 9WL, United Kingdom

Location

MeSH Terms

Conditions

Arterial calcification of infancy; Hypophosphatemic Rickets, Autosomal Recessive, 1

Study Officials

• Kurt Gunter, MD

  Inozyme Pharma, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2021
• First Posted: September 20, 2021
• Study Start: April 27, 2022
• Primary Completion: August 17, 2023
• Study Completion: June 26, 2024
• Last Updated: September 19, 2024

Record last verified: 2024-09

Locations

GB (1); US (3); CA (1)