Natural History of GACI With or Without ARHR2 or PXE

NCT03758534 | Unknown

• 1 other identifier: GACI Natural History
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 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.

Conditions

Generalized Arterial Calcification in Infancy; Autosomal Recessive Hypophosphatemic Rickets; Pseudoxanthoma Elasticum

Outcome Measures

Primary Outcomes (1)

• Survival

  This study will record the survival rate in patients with GACI

  Recruitment for this study will end in March 2019

Interventions

No intervention OTHER

This is a retrospective chart review study.

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Probands with proven history of generalized arterial calcification of infancy.

You may qualify if:

• GACI genotype (mutation in ENPP1 and/or 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 and/or ABCC6) coinciding with symptoms of the patient.
• Data will be collected for both living and deceased patients

You may not qualify if:

• Caregivers are not able to give written consent.

Sponsors & Collaborators

• Universität Münster: lead
• ICON plc: collaborator

Study Sites (1)

WWU Munster

Münster, 48149, Germany

RECRUITING

MeSH Terms

Conditions

Arterial calcification of infancy; Hypophosphatemic Rickets, Autosomal Recessive, 1; Pseudoxanthoma Elasticum

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Study Officials

• Frank Rutsch, MD

  WWU Munster

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Frank Rutsch, MD

CONTACT

+49251-8347700; frank.rutsch@ukmuenster.de

Kerstin Mueller, PhD

CONTACT

+16042352172; kerstin.mueller@iconplc.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. Dr. Frank Rutsch, MD

Study Record Dates

• First Submitted: November 28, 2018
• First Posted: November 29, 2018
• Study Start: March 15, 2018
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2019
• Last Updated: November 29, 2018

Record last verified: 2018-11

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)