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

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Trial Status Completed

Trial Identifier

NCT05050669

Condition

ENPP1 Deficiency, ABCC6 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial 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.

Eligibility Criteria

Birth Sex

All

Age

2 Years to 18 Years

Healthy Volunteers

No

Drug/Treatment:

No Intervention for this observational study

Study Type:

Observational

Number of Participants:

12

Study Started:

2022-04-27

Study Updated:

2024-09-19

Trial Locations

  • Boston Children's Hospital

    Boston, Massachusetts, United States

  • CHOP - Robers Center for Pediatric Research

    Philadelphia, Pennsylvania, United States

  • Cook Children's Hospital

    Fort Worth, Texas, United States

  • CHU Sainte-Justine

    Montreal, Quebec, Canada

  • Royal Manchester University Hospital

    Manchester, United Kingdom

Inclusion Criteria

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

1. 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
2. Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency
3. Male or female, aged 2 to <18 years 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) 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

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