Ignite Creation Date:
2024-05-06 @ 8:15 PM
Last Modification Date:
2024-10-26 @ 3:23 PM
Study NCT ID:
NCT06302439
Status:
RECRUITING
Last Update Posted:
2024-03-18
First Post:
2024-02-16
Brief Title:
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
Sponsor:
Inozyme Pharma
Organization:
Inozyme Pharma
Study Overview
Official Title:
A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency GACI Type 2
Status:
RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatasephosphodiesterase1ENPP1 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
Detailed Description:
ENPP1 Deficiency is a rare genetic disorder caused by inactivating mutations in the ENPP1 gene that encodes the ENPP1 enzyme Infantile-onset ENPP1 Deficiency has a high mortality approximately 50 in the first 0 to 6 months of life a result of downstream cardiopulmonary complications Pediatric patients with ENPP1 Deficiency typically experience rickets a condition also known as autosomal-recessive hypophosphatemic rickets type 2 ARHR2 while adults experience osteomalacia softened bones and they can exhibit a range of signs and symptoms that include hearing loss arterial calcification and cardiac andor neurological involvement
Like ENPP1 Deficiency infantile-onset ABCC6 Deficiency is a rare genetic disorder caused by mutations in the ABCC6 gene Infantile-onset of ABCC6 Deficiency resembles the acute infantile form of ENPP1 Deficiency Pediatric patients with biallelic or monoallelic ABCC6 mutations can present with cerebrovascular disease
This is an international multicenter prospective non-interventional observational registry of patients with biallelic variants in ENPP1 symptomatic patients with monoallelic ENPP1 variants and the infantile-onset form of ABCC6 Deficiency 18 years of age The registry will include patients with ENPP1 Deficiency or infantile-onset of ABCC6 Deficiency independent of treatment regimen Note patients participating in an INZ-701 interventional clinical study are not eligible
Registry participation will consist of a Screening Period and an Observational Period During the Screening Period both retrospective data past medical history and data available at the time of consent baseline visit will be collected Data collected will include standard of care assessments which may consist of any or all of the following laboratory testing radiographical assessment of calcification and vascular stenosis bone mineralization with addition of performance outcomes patient- caregiver- and physician-reported outcomes and healthcare utilization During the Observational Period participants will be assessed during their routine visits for changes in their disease and PROs and data will be added periodically to the database There will be an opportunity for an optional blood draw to assess levels of inorganic pyrophosphate PPi at each routine visit
Like ENPP1 Deficiency infantile-onset ABCC6 Deficiency is a rare genetic disorder caused by mutations in the ABCC6 gene Infantile-onset of ABCC6 Deficiency resembles the acute infantile form of ENPP1 Deficiency Pediatric patients with biallelic or monoallelic ABCC6 mutations can present with cerebrovascular disease
This is an international multicenter prospective non-interventional observational registry of patients with biallelic variants in ENPP1 symptomatic patients with monoallelic ENPP1 variants and the infantile-onset form of ABCC6 Deficiency 18 years of age The registry will include patients with ENPP1 Deficiency or infantile-onset of ABCC6 Deficiency independent of treatment regimen Note patients participating in an INZ-701 interventional clinical study are not eligible
Registry participation will consist of a Screening Period and an Observational Period During the Screening Period both retrospective data past medical history and data available at the time of consent baseline visit will be collected Data collected will include standard of care assessments which may consist of any or all of the following laboratory testing radiographical assessment of calcification and vascular stenosis bone mineralization with addition of performance outcomes patient- caregiver- and physician-reported outcomes and healthcare utilization During the Observational Period participants will be assessed during their routine visits for changes in their disease and PROs and data will be added periodically to the database There will be an opportunity for an optional blood draw to assess levels of inorganic pyrophosphate PPi at each routine visit
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None