NCT05050669
ENPP1 Deficiency, ABCC6 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.
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.
All
2 Years to 18 Years
No
No Intervention for this observational study
Observational
12
2022-04-27
2024-09-19
Boston, Massachusetts, United States
Philadelphia, Pennsylvania, United States
Fort Worth, Texas, United States
Montreal, Quebec, Canada
Manchester, United Kingdom
Individuals eligible to participate must meet all of the following inclusion criteria:
1. 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
2. Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency
3. Male or female, aged 2 to <18 years
4. In the opinion of the Investigator, must be willing and able to complete all aspects of the study
5. Agree to provide access to relevant medical records
Individuals who meet the following exclusion criterion will not be eligible to participate:
1. In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease
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