Clinical trials: Pseudoxanthoma Elasticum
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Trial name
- ENERGY (NCT05734196)
- Testing
- INZ-701
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Inozyme Pharma
Choroidal Neovascularization
Ranibizumab to Treat Choroidal Neovascularization (CNV) in Patients With Pseudoxanthoma Elasticum (PXE)
The purpose of the study is to investigate the efficacy of a new drug called ranibizumab in the treatment of choroidal neovascularization in underlying angioid streaks due to Pseudoxanthoma elasticum.
- Trial name
- NCT00510965
- Testing
- Intravitreal injection ranibizumab
- Where
- Germany
- Volunteers
- 10 people
- Sponsor
- University Hospital, Bonn
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets
Natural History of GACI With or Without ARHR2 or PXE
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.
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets, Pseudoxanthoma Elasticum
- Trial name
- NCT03758534
- Testing
- No intervention
- Where
- Germany
- Volunteers
- 80 people
- Sponsor
- Universität Münster
Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
Response to Oral Lansoprazole of Inorganic Pyrophosphate Levels in Patients With Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
Protocol code and version: FIM-PXE-2016-01 Version 1.4 Trial title: "Response to oral lansoprazole of inorganic pyrophosphate levels in patients with Grönblad- Stranberg disease (Pseudoxanthoma Elasticum)" Trial design…
- Trial name
- FIMPXE2016-01 (NCT04660461)
- Testing
- Lansoprazole 30mg
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
Pseudoxanthoma Elasticum
A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum
This study was designed to evaluate the safety, tolerability, pharmacodynamics (PD) of DS-1211b, and pharmacokinetics (PK) in individuals with Pseudoxanthoma elasticum (PXE).
- Trial name
- NCT05569252
- Testing
- DS-1211b
- Where
- 7 sites in United States, Netherlands
- Volunteers
- 65 people
- Sponsor
- Daiichi Sankyo
Elasticum, Incomplete Pseudoxanthoma
The Characteristics of Backscattering With Depth in the Progression of Keratoconus
To investigate the variation in backscattering with depth between forme fruste keratoconus (FFKC), keratoconus, and normal eyes; to determine the backscattering changes in the characteristics of keratoconus progression; and to…
- Trial name
- NCT06050629
- Where
- China
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Tianjin Eye Hospital
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
Background: Generalized Arterial Calcification of Infancy (GACI) is a very rare disorder. It can be fatal before birth or by age 6 months. Anumber of people with GACI survive into adulthood.
- Trial name
- NCT03478839
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pseudoxanthoma Elasticum, Angioid Streaks
Progression Assessment of PXE-associated Alterations
This monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE).
- Conditions
- Pseudoxanthoma Elasticum, Angioid Streaks, Peau d'Orange, Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
- Trial name
- PAPA (NCT07048106)
- Where
- Germany
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bonn
Pseudoxanthoma Elasticum
What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum
The investigators hypothesize is that in PXE patients, low grade chronic inflammation could preceed the molecular and the clinical calcification process.
- Trial name
- GOCAPXE (NCT03070860)
- Testing
- PET scan 18-FDG and 18-NAF
- Where
- France
- Volunteers
- 23 people
- Sponsor
- University Hospital, Angers
Pseudoxanthoma Elasticum
Biological Collection of Kidney Cells
Our objective is to obtain human induced pluripotent stem cells from urine samples of PXE patients for further proteomic and metabolomic studies and treatment screening.
- Trial name
- CRHiPS (NCT03364504)
- Testing
- urine collection
- Volunteers
- 10 people
- Sponsor
- University Hospital, Angers
ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) recombinant…
- Conditions
- ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum, Generalized Arterial Calcification of Infancy
- Trial name
- NCT05030831
- Testing
- INZ-701
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 10 people
- Sponsor
- Inozyme Pharma
Pseudoxanthoma Elasticum
Evolution of Visual Impairment During Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1.
- Trial name
- NCT00555113
- Where
- France
- Volunteers
- 38 people
- Sponsor
- European Georges Pompidou Hospital
Pseudoxanthoma Elasticum
PPI Supplementation to Fight ECtopIc Calcification in PXE
Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1/25000) characterized by progressive ectopic calcification of connective tissues.
- Trial name
- PROPHECI-PPI (NCT04868578)
- Testing
- study treatment PPI
- Where
- 2 sites in France
- Volunteers
- 99 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Pseudoxanthoma Elasticum
The Prevention of Systemic Ectopic Mineralization in Pseudoxanthoma Elasticum
The goal of this randomized clinical trial is to assess the effect of etidronate on ectopic calcification in relatively young patients with Pseudoxanthoma elasticum.
- Trial name
- TEMP-PREVENT (NCT05832580)
- Testing
- Etidronate
- Where
- Netherlands
- Volunteers
- 76 people
- Sponsor
- UMC Utrecht
Pseudoxanthoma Elasticum
Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE)
To determine the specific structural and functional features of the peripheral arteriopathy in the Pseudoxanthoma Elasticum (PXE), an inherited autosomal disease.
- Trial name
- Ca-Art-PXE (NCT01446393)
- Where
- France
- Volunteers
- 71 people
- Sponsor
- University Hospital, Angers
Pseudoxanthoma Elasticum
Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).
- Trial name
- PROPXE (NCT05662085)
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 25 people
- Sponsor
- University Hospital, Basel, Switzerland
Pseudoxanthoma Elasticum, PXE
Genetic Analysis of Patients With Pseudoxanthoma Elasticum
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females.
- Trial name
- NCT00341419
- Where
- United States
- Volunteers
- 188 people
- Sponsor
- National Cancer Institute (NCI)
Pseudoxanthoma Elasticum
Purinergic Compounds in Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, transmitted as an autosomal recessive trait, affecting approximately 1 in 50,000 people, predominantly women.
- Trial name
- PURI-PXE (NCT07323082)
- Testing
- supplementary tubes, SCANNER
- Where
- 2 sites in France
- Volunteers
- 45 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological…
- Trial name
- NCT05025722
- Testing
- Non Interventional
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Daiichi Sankyo
Pseudoxanthoma Elasticum, Employment
Employment of Patients With Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive genetic disease characterized by progressive calcification and fragmentation of elastic fibers in connective tissues.
- Trial name
- MEE-PXE (NCT05246189)
- Testing
- Telephone Call
- Where
- France
- Volunteers
- 99 people
- Sponsor
- University Hospital, Angers