Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study)

NCT03813550 | Unknown

• 1 other identifier: 2018/79
• Study Type: interventional
• Target: 20
• Locations: 2 countries
• Sites: 3

Brief Summary

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).

Conditions

Pseudoxanthoma Elasticum

Keywords

PXE; calcification; Gla proteins; gut microbiota; vitamin K2; menaquinones; taxonomic meta-sequencing

Outcome Measures

Primary Outcomes (6)

• Fecal samples for intestinal microbiota analysis

  Gut microbiota composition and relative abundance of species (via metagenomic sequencing)

  15 min

• Fecal samples for assessment of various forms of vitamin K

  Fecal Vitamin K species

  15 min

• Blood samples for assessment of various forms of vitamin K

  Plasma Vitamin K species

  15 min

• Blood samples for assessment of dp-ucMGP

  Plasma dp-ucMGP

  15 min

• Blood samples for assessment of PIVKA-II

  Serum PIVKA-II

  15 min

• Severity of ocular and cardiovascular PXE manifestations and extent of PXE skin changes

  Modified Phenodex score: * Skin lesions severity: S0=No sign; S1= Papules/bumps; S2= Plaques of coalesced papules; S3= Lax and redundant skin * Number of affected skin sites: for Typical and Nontypical areas * Ophthalmological involvement: E0= No sign; E1= Peau d'orange ; E2= Angioid streaks; E3a=Medical history of bleeding and/or scarring; E3b= Unilateral or bilateral blindness * Gastrointestinal bleeding: G0= No sign; G1= Gastrointestinal bleeding as related to PXE * Vascular involvement: V0= No sign; V1= Weak or absent pulse or peripheral artery disease revealed by vascular imaging; V2= Intermittent claudication; V3= Medical history of vascular surgery or Stroke/TIA * Cardiac involvement: C0= No sign; C1= medical history of chest pain/angina/abnormal EKG or abnormal stress test with no symptom, or Mitral insufficiency; C2= Heart attack * Renal involvement: R0= No sign; R1a= asymptomatic nephrocalcinosis revealed by imaging; R1b= Nephrolithiasis

  15 min

Study Arms (1)

PXE cohort 2019-2020

OTHER

PXE patient cohort monitored at referral centre from 2019 to 2020: fecal and blood samples

Diagnostic Test: Fecal and blood samples

Interventions

Fecal and blood samples DIAGNOSTIC_TEST

Fecal samples for intestinal microbiota analysis; Blood and fecal samples for assessment of various forms of vitamin K

PXE cohort 2019-2020

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with phenotypically and genetically (ABCC6) proven PXE
• Aged over 18 years
• Written consent obtained for Angers University Hospital (France) PXE bio-collection

You may not qualify if:

• Patients under the age of 18
• Patients unwilling to participate in the study, or unable to sign the bio-collection consent form

Sponsors & Collaborators

• University Hospital, Angers: lead
• Maastricht University: collaborator
• Biofortis Mérieux NutriSciences: collaborator

Study Sites (3)

Biofortis Mérieux NutriSciences

Saint-Herblain, Pays de la Loire Region, 44800, France

ACTIVE NOT RECRUITING

Department of Dermatology, University Hospital of Angers

Angers, Pays de Loire, 49933, France

RECRUITING

Department of Biochemistry, University Maastricht

Maastricht, 6229, Netherlands

ACTIVE NOT RECRUITING

Related Publications (39)

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MeSH Terms

Conditions

Pseudoxanthoma Elasticum; Calcinosis

Interventions

Defecation; Blood Specimen Collection

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; Calcium Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Digestive System Physiological Phenomena; Digestive System and Oral Physiological Phenomena; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Ludovic MARTIN, MD, PhD

  Department of Dermatology, University Hospital of Angers

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ludovic MARTIN, MD, PhD

CONTACT

+332.41.35.55.76; LuMartin@chu-angers.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 19, 2019
• First Posted: January 23, 2019
• Study Start: January 21, 2019
• Primary Completion: January 30, 2020
• Study Completion: January 30, 2020
• Last Updated: February 4, 2019

Record last verified: 2019-01

Locations

FR (2); NL (1)