RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)

Quick Facts

Study Start:2024-07-25
Study Completion:2034-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06302439

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. 1. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
  2. 2. 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
  3. 1. 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

Contacts and Locations

Study Contact

Ruth du Moulin, Ph.D
CONTACT
(857) 330-4340
ruth.dumoulin@inozyme.com
Jelena Garafalo, Ph.D
CONTACT
(857) 330-4340
jelena.garafalo@inozyme.com

Principal Investigator

Kurt Gunter, MD
STUDY_DIRECTOR
Inozyme Pharma, Inc.

Study Locations (Sites)

Ann and Robert H. Lurie Children's Hospital
Chicago, Illinois, 60611
United States
Boston Children's Hospital
Boston, Massachusetts, 02115
United States
Mayo Clinic
Rochester, Minnesota, 55905
United States
CLINILABS Drug Development Corp
Eatontown, New Jersey, 07724
United States
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104
United States

Collaborators and Investigators

Sponsor: Inozyme Pharma

  • Kurt Gunter, MD, STUDY_DIRECTOR, Inozyme Pharma, Inc.

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-07-25
Study Completion Date2034-05

Study Record Updates

Study Start Date2024-07-25
Study Completion Date2034-05

Terms related to this study

Keywords Provided by Researchers

  • Ectonucleotide pyrophosphatase
  • ENPP1
  • Generalized Arterial Calcification of Infancy
  • GACI
  • Autosomal Recessive Hypophosphatemic Rickets Type 2
  • ARHR2
  • Observational
  • Registry
  • ATP-Binding Cassette Subfamily C Member 6 Deficiency
  • ABCC6
  • PROPEL
  • Phosphodiesterase 1

Additional Relevant MeSH Terms

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency
  • ATP-Binding Cassette Subfamily C Member 6 Deficiency