RecruitingNot Applicable

PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency

United States1,000 participantsStarted 2024-07-25

Plain-language summary

The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) Deficiency longitudinally. The registry will prospectively gather information about the genetic, biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes \[PROs\]) of each disease during routine, standard-of-care visits, with the aim of developing a comprehensive understanding of the burden of illness and progressive nature of the disease.

Who can participate

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)
✓. Agree to provide access to relevant medical records
✓. One of the following genetic or clinical criteria
✓. A confirmed prenatal or 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
✓. Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms:

Exclusion criteria

✕. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
✕. Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies
✕. Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed

What they're measuring

Characterization of the natural history of ENPP1 Deficiency and the infantile-onset form of ABCC6 Deficiency longitudinally

Timeframe: Annually up to 10 years

Assessment of Patient Functional changes through a validated Patient Reported Outcomes (PROs) tool

Timeframe: Annually up to 10 years

Assessment of Health-Related Quality-of-Life (HRQoL) changes through validated Patient Reported Outcomes (PROs) tools

Timeframe: Annually up to 10 years

Measurement of inorganic phosphate (PPi) levels in patients' venous blood

Timeframe: Annually up to 10 years

Trial details

NCT IDNCT06302439

SponsorInozyme Pharma

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2034-05

Contact for this trial

Jelena Garafalo, Ph.D

(857) 330-4340 jelena.garafalo@inozyme.com

View on ClinicalTrials.gov More Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency trials

Plain-language summary

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)
✓. Agree to provide access to relevant medical records
✓. One of the following genetic or clinical criteria
✓. A confirmed prenatal or 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
✓. Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms:

Exclusion criteria

✕. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
✕. Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies
✕. Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed

What they're measuring

Characterization of the natural history of ENPP1 Deficiency and the infantile-onset form of ABCC6 Deficiency longitudinally

Timeframe: Annually up to 10 years

Assessment of Patient Functional changes through a validated Patient Reported Outcomes (PROs) tool

Timeframe: Annually up to 10 years

Assessment of Health-Related Quality-of-Life (HRQoL) changes through validated Patient Reported Outcomes (PROs) tools

Timeframe: Annually up to 10 years

Measurement of inorganic phosphate (PPi) levels in patients' venous blood

Timeframe: Annually up to 10 years