Actively Recruiting
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
Led by Inozyme Pharma · Updated on 2025-12-22
1000
Participants Needed
14
Research Sites
509 weeks
Total Duration
On this page
Sponsors
I
Inozyme Pharma
Lead Sponsor
G
GACI Global
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Provide written or electronic consent before any research procedures
- Agree to allow access to relevant medical records
- Have a confirmed genetic diagnosis of ENPP1 Deficiency with mutations in both gene copies
- Or have one ENPP1 gene mutation with symptoms such as fractures, low bone density under age 55, bone/joint pain limiting activities, early heart problems, rickets, bone deformity, or ossification of spinal ligaments
- Or have a confirmed genetic diagnosis of ABCC6 Deficiency with mutations in both gene copies and be under 18 years old
You will not qualify if you...
- Unable to provide informed consent due to cognitive limitations
- Currently participating in an INZ-701 interventional clinical study (except expanded access or long-term safety follow-up studies)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 14 locations
1
Ann and Robert H. Lurie Children's Hospital
Chicago, Illinois, United States, 60611
Actively Recruiting
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
3
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
4
CLINILABS Drug Development Corp
Eatontown, New Jersey, United States, 07724
Actively Recruiting
5
The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
6
CHU Sainte-Justine Research Centre
Montreal, Quebec, Canada, H3T1C5
Actively Recruiting
7
Universitätsklinikum Hamburg-Eppendorf
Hamburg, Germany, 20251
Actively Recruiting
8
IRCCS San Raffaele Hospital - Main
Milan, Italy, 20132
Actively Recruiting
9
The University of Tokyo Hospital
Tokyo, Japan, 113-8655
Actively Recruiting
10
Royal Hospital Muscat
Muscat, Oman
Actively Recruiting
11
EU Hub - VCTC
Barcelona, Spain, 08029
Actively Recruiting
12
Hospital Sant Joan de Deu
Barcelona, Spain, 08950
Actively Recruiting
13
Umraniye Training and Research Hospital
Istanbul, Turkey (Türkiye), 34764
Actively Recruiting
14
VCTC
Derby, United Kingdom, DE11 7AQ
Actively Recruiting
Research Team
J
Jelena Garafalo, Ph.D
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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