Status:

COMPLETED

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study

Lead Sponsor:

Hospices Civils de Lyon

Conditions:

Osteogenesis Imperfecta

Eligibility:

All Genders

18+ years

Phase:

NA

Brief Summary

Osteogenesis Imperfecta (OI) is a heterogeneous group of rare connective tissue hereditary diseases responsible for fragility and bone deformity. OI is caused by an autosomal dominant mutation of COL1...

Eligibility Criteria

Inclusion

  • Control population:
  • Male or female
  • 18 years old and over
  • Be part of cohorts STRAMBO, OFELY or MODAM
  • Patients with OI:
  • Male or female ≥18 years old
  • Have COL1A1 or COL1A2 mutation
  • Have a diagnosis of type 1 or 3 from Silence classification made by a rheumatologist expert in bone pathologies

Exclusion

  • Refusal to participate in the study
  • Have received glucocorticoid treatment for more than 3 months
  • Have received anti-osteoporotic treatment for less than 1 year ago
  • Have Chronic inflammatory rheumatism
  • Have an uncontrolled hypo/hyper thyroidism ou hypo/hyper parathyroidism
  • Have cancer or bone metastases (current or in the past two years)
  • Have benign bone tumors or Paget's disease
  • Have malabsorptive disease (Celiac disease, Whipple's disease, intestinal bypass, short bowel syndrome) and inflammatory bowel disease
  • Pregnant or lactating women
  • Have psychiatric disorders seriously hindering understanding
  • Have difficulties in oral understanding of French language
  • Not a beneficiary of french social security
  • Patients protected by law

Key Trial Info

Start Date :

October 3 2019

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

April 24 2022

Estimated Enrollment :

66 Patients enrolled

Trial Details

Trial ID

NCT04009733

Start Date

October 3 2019

End Date

April 24 2022

Last Update

September 4 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Hôpital Edouard Herriot

Lyon, France, 69003