Clinical trials: Pseudoxanthoma Elasticum
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
Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE)
The purpose of this study is to evaluate the effectiveness of magnesium oxide supplements on the reversal of calcium deposits in the skin, and the yellow bumps and folds of skin in subjects with pseudoxanthoma elasticum (PXE).
- Trial name
- NCT01525875
- Testing
- Magnesium Oxide
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Mark Lebwohl
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
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
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
Coats' Disease, Idiopathic Retinal Telangiectasia
Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy
The purpose of this study is to evaluate the safety and tolerability of intravitreal injections of ranibizumab in the treatment of AMD variants and other choroidal neovascularization (CNV) related conditions (Coats' disease…
- Conditions
- Coats' Disease, Idiopathic Retinal Telangiectasia, Retinal Angiomatous Proliferation, Polypoidal Choroidal Vasculopathy
- Trial name
- FVF4140S (NCT00470977)
- Testing
- ranibizumab injection (0.5 mg)
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Manhattan Eye, Ear & Throat Hospital
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
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
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
Pseudoxanthoma Elasticum
Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study)
This study aims to demonstrate a potential association between gut microbiota composition, plasma levels of various forms of vitamin K, and severity of clinical manifestations of Pseudoxanthoma Elasticum (PXE).
- Trial name
- IMPROVE (NCT03813550)
- Testing
- Fecal and blood samples
- Where
- 3 sites in France, Netherlands
- Volunteers
- 20 people
- Sponsor
- University Hospital, Angers
Pseudoxanthoma Elasticum
Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).
- Trial name
- NCT01446380
- Where
- France
- Volunteers
- 350 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