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

Generalized Arterial Calcification of Infancy Clinical Trial

Official title:

A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects With ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05050669
• Other study ID #: INZ701-003
• Status: Not yet recruiting
• Start date: January 2022
• Est. completion date: December 2023

Study information

• Verified date: September 2021
• Source: Inozyme Pharma
• Contact: Inozyme Clinical Trial Information
• Phone: +1 857 330 4340
• Email: clinicaltrials[@]inozyme.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive Hypophosphatemic Rickets Type 2 [ARHR2]) and the early-onset form of ABCC6 Deficiency (Generalized Arterial Calcification of Infancy Type 2 [GACI-2]) longitudinally.

Description:

Study INZ701-003 is a multicenter, prospective, longitudinal, observational study to evaluate disease presentation and progression in infant, pediatric, and adult subjects with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency. The study will gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes [PROs]) of each disease.

Subjects will receive the current standard of care available at the clinical site along with additional assessments administered by the study team.

Subject participation will consist of a Screening Period and an Observational Period.

During the Screening Period, eligibility will be determined. A subject will be enrolled into the study if they meet all eligibility criteria.

During the Observational Period, subjects will be assessed for changes in their disease in the following areas: measurements of physiological function (including laboratory testing, anatomical and radiographical assessment of calcification and bone mineralization, performance outcomes, patient, caregiver, and physician reported outcomes) and healthcare utilization.

The type and timing of assessments will be based on the age of the subject at the time of testing.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 30
• Est. completion date: December 2023
• Est. primary completion date: December 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

Individuals eligible to participate must meet all of the following inclusion criteria:

1. Must provide written or electronic consent (if able) and/or the consent of the legally authorized representative/caregiver and assent for subjects <18 years of age after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site

2. Clinical diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency (GACI 2) based on clinical, radiological, or biochemical evidence and confirmed by prior or concurrent genetic testing. The early-onset form of ABCC6 Deficiency is defined as diagnosis of GACI 2 before 5 years of age for subjects of any age at enrollment.

3. Male or female, birth through adulthood

4. In the opinion of the Investigator, must be willing and able to complete all aspects of the study

5. Agree to provide access to relevant medical records.

Exclusion Criteria:

Individuals who meet the following exclusion criterion will not be eligible to participate:

1. 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 [GACI 2]) 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

2. Receiving any investigational new drug or device or plans to do so before completion of participation in the study. Participation in an interventional trial of an approved drug or device being used in an investigational manner is allowed, depending on review and approval of the Sponsor

Related Conditions & MeSH terms

• Autosomal Recessive Hypophosphatemic Rickets
• Calcinosis
• Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
• Familial Hypophosphatemic Rickets
• Generalized Arterial Calcification of Infancy
• Pseudoxanthoma Elasticum
• Rickets

Intervention

Other:
• No Intervention for this observational study
No Intervention for this observational study

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Inozyme Pharma

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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 22 months
Primary	Determination of Arterial Calcification	For each subject, occurrence of arterial calcification will be examined	Up to 22 months
Primary	Determination of Organ Calcification	For each subject, occurrence of organ calcification will be examined	Up to 22 months
Primary	Determination of skeletal radiographs	For each subject, skeletal radiographs will be obtained to determine skeletal abnormalities and will be compared to baseline	Up to 22 months
Primary	Determination of range of motion	For each subject, range of motion will be assessed using goniometer, comparing to subjects baseline over time	Up to 22 months
Primary	Determination of infant and toddler development	In infants and Toddlers up to 42 months of age, development will be assessed using Bayley scale of infant and toddler development	22 months