CompletedNot Applicable

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

United States, Canada, United Kingdom12 participantsStarted 2022-04-27

Plain-language 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.

Who can participate

Age range2 Years – 18 Years

SexALL

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Inclusion criteria

✓. 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

What they're measuring

Measurement of Plasma Inorganic Pyrophosphate (PPi) in Plasma

Timeframe: Up to 12 months

Determination of Arterial Calcification

Timeframe: Up to 12 months

Determination of Organ Calcification

Timeframe: Up to 12 months

Determination of skeletal radiographs

Timeframe: Up to 12 months

Determination of range of motion

Timeframe: Up to 12 months

Trial details

NCT IDNCT05050669

SponsorInozyme Pharma

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2023-08-17

View on ClinicalTrials.gov More Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency trials