New registry aims to unlock secrets of rare genetic diseases
NCT ID NCT06302439
First seen Jun 26, 2026 · Last updated Aug 28, 2026 · Updated 2 times
Summary
This observational registry is collecting information from up to 1,000 people with ENPP1 deficiency or infantile-onset ABCC6 deficiency. The goal is to understand how these rare diseases progress over time by tracking genetic, physical, and quality-of-life changes during routine doctor visits. No treatment is given; the study simply observes and records data to build a clearer picture of these conditions.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this registry could provide crucial data to help design future treatments for these rare diseases.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly benefit participants, and results depend on consistent data collection across many sites.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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54 people
The number who actually took part.
- Started
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Jul 2024
- Expected to finish
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Aug 2026
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Evidence of biallelic ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) variants in ENPP1 Deficiency or Evidence of monoallelic ENPP1 variants and disease-related symptoms or Infantile onset with biallelic adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) variants in participants aged \<18 years.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: Individuals eligible to participate must meet all the following inclusion criteria: 1. 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) 2. Agree to provide access to relevant medical records 3. One of the following genetic or clinical criteria 1. 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 OR 2. Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms: i. ≥ 1 traumatic vertebral fracture ii. ≥ 2 fractures as an adult (eg, long-bones, digits, vertebrae) iii. Low bone mineral density (dual-energy X-ray absorptiometry \[DXA\] Z-score \<1.5) and \<55 years of age iv. Bone or joint pain interfering with movement or daily activities v. History of myocardial infarction (MI), unstable angina, transient ischemic attack (TIA) or low cardiac output before the age of 40 yrs. vi. History of rickets or bone deformity vii. Diagnosis of ossification of the posterior longitudinal ligament (OPLL) viii. Other clinical symptoms, with approval by Inozyme OR c. A confirmed prenatal or postnatal molecular genetic diagnosis of ABCC6 Deficiency with biallelic mutations confirmed by a certified CAP/CLIA laboratory or regional equivalent, and \<18 years of age Exclusion Criteria: Individuals who meet the following exclusion criteria will not be eligible to participate: 1. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent 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 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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Ann and Robert H. Lurie Children's Hospital
Chicago, Illinois, 60611, United States
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Boston Children's Hospital
Boston, Massachusetts, 02115, United States
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CHU Sainte-Justine Research Centre
Montreal, Quebec, H3T1C5, Canada
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CLINILABS Drug Development Corp
Eatontown, New Jersey, 07724, United States
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EU Hub - VCTC
Barcelona, 08029, Spain
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Hospital Sant Joan de Deu
Barcelona, 08950, Spain
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IRCCS San Raffaele Hospital - Main
Milan, 20132, Italy
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Mayo Clinic
Rochester, Minnesota, 55905, United States
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Royal Hospital Muscat
Muscat, Oman
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The Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104, United States
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The University of Tokyo Hospital
Tokyo, 113-8655, Japan
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Umraniye Training and Research Hospital
Istanbul, 34764, Turkey (Türkiye)
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Universitätsklinikum Hamburg-Eppendorf
Hamburg, 20251, Germany
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VCTC
Derby, DE11 7AQ, United Kingdom
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