Ignite Creation Date:
2024-05-06 @ 12:25 PM
Last Modification Date:
2024-10-26 @ 12:58 PM
Study NCT ID:
NCT03758534
Status:
UNKNOWN
Last Update Posted:
2018-11-29
First Post:
2018-11-28
Brief Title:
Natural History of GACI With or Without ARHR2 or PXE
Sponsor:
Universität Münster
Organization:
Universität Münster
Study Overview
Official Title:
The Natural History of Generalized Arterial Calcification of Infancy GACI With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 ARHR2 or Pseudoxanthoma Elasticum PXE
Status:
UNKNOWN
Status Verified Date:
2018-11
Last Known Status:
RECRUITING
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:
Generalized arterial calcification of infancy GACI is an ultra-rare disorder with an estimated birth prevalence of around 1 in 4000001 GACI is generally fatal before birth or within the first six months after birth The cause of death is frequently myocardial infarction or stroke GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate phosphodiesterase 1 ENPP1 Many patients with GACI including some without an ENPP1 mutation also present with mutations in adenosine triphosphate binding cassette transporter protein subfamily C member 6 ABCC6 Autosomal recessive hypophosphatemic rickets type 2 ARHR2 and pseudoxanthoma elasticum PXE are believed to be closely related to GACI ARHR2 is caused by mutations in the ENPP1 gene and PXE is caused by mutations in the ABCC6 gene with both being observed among patients with GACI The natural history of GACI and in particular its long term morbidity and mortality are poorly understood The primary objective of this study is to characterize overall survival among patients with GACI over time from birth
Detailed Description:
Background
Generalized arterial calcification of infancy GACI is an ultra-rare disorder with an estimated birth prevalence of around 1 in 4000001 GACI is characterized by extensive arterial calcifications arterial stenosis myointimal proliferation and periarticular calcifications Individuals with GACI also experience calcification in other body areas such as joints and organs GACI is generally fatal before birth or within the first six months after birth The cause of death is frequently myocardial infarction or stroke GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate phosphodiesterase 1 ENPP1 around three quarters of GACI cases investigated had one or several ENPP1 mutations Many patients with GACI including some without an ENPP1 mutation also present with mutations in adenosine triphosphate binding cassette transporter protein subfamily C member 6 ABCC6 Autosomal recessive hypophosphatemic rickets type 2 ARHR2 and pseudoxanthoma elasticum PXE are believed to be closely related to GACI ARHR2 is caused by mutations in the ENPP1 gene5 and PXE is caused by mutations in the ABCC6 gene3 with both being observed among patients with GACI The natural history of GACI and in particular its long term morbidity and mortality are poorly understood but a strong understanding of the condition will be crucial for further therapy development and drug testing This study aims to address this knowledge gap
Objectives
The primary objective of this study is to characterize overall survival among patients with GACI over time from birth
Secondary objectives are to
Characterize the patient and disease characteristics
Describe symptomology at diagnosis and the change in symptomology over time
Describe treatment patterns specific to GACI or rickets
Characterize mentalphysical impairment education and employment situation
Characterize the sequelae of the disease
Prevalence of rickets and
Growth velocities
Eligibility
GACI genotype mutation in ENPP1 andor ABCC6 confirmed through mutational analysis of the patient and a GACI phenotype confirmed by imaging or biopsy or
GACI phenotype confirmed with imaging biopsy or mutational analysis of the parents indicating a GACI genotype mutation in ENPP1 andor ABCC6 coinciding with symptoms of the patient
Data will be collected for both living and deceased patients
Design
Retrospective multicenter chart review
Generalized arterial calcification of infancy GACI is an ultra-rare disorder with an estimated birth prevalence of around 1 in 4000001 GACI is characterized by extensive arterial calcifications arterial stenosis myointimal proliferation and periarticular calcifications Individuals with GACI also experience calcification in other body areas such as joints and organs GACI is generally fatal before birth or within the first six months after birth The cause of death is frequently myocardial infarction or stroke GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate phosphodiesterase 1 ENPP1 around three quarters of GACI cases investigated had one or several ENPP1 mutations Many patients with GACI including some without an ENPP1 mutation also present with mutations in adenosine triphosphate binding cassette transporter protein subfamily C member 6 ABCC6 Autosomal recessive hypophosphatemic rickets type 2 ARHR2 and pseudoxanthoma elasticum PXE are believed to be closely related to GACI ARHR2 is caused by mutations in the ENPP1 gene5 and PXE is caused by mutations in the ABCC6 gene3 with both being observed among patients with GACI The natural history of GACI and in particular its long term morbidity and mortality are poorly understood but a strong understanding of the condition will be crucial for further therapy development and drug testing This study aims to address this knowledge gap
Objectives
The primary objective of this study is to characterize overall survival among patients with GACI over time from birth
Secondary objectives are to
Characterize the patient and disease characteristics
Describe symptomology at diagnosis and the change in symptomology over time
Describe treatment patterns specific to GACI or rickets
Characterize mentalphysical impairment education and employment situation
Characterize the sequelae of the disease
Prevalence of rickets and
Growth velocities
Eligibility
GACI genotype mutation in ENPP1 andor ABCC6 confirmed through mutational analysis of the patient and a GACI phenotype confirmed by imaging or biopsy or
GACI phenotype confirmed with imaging biopsy or mutational analysis of the parents indicating a GACI genotype mutation in ENPP1 andor ABCC6 coinciding with symptoms of the patient
Data will be collected for both living and deceased patients
Design
Retrospective multicenter chart review
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