Clinical trial NCT04009733: Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
Official title: Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Osteogenesis Imperfecta
Keywords: Osteogenesis imperfecta
micro Ribonucleic acids
epigenetics
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2019-07-05
Enrollment: 66
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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 COL1A1 or COL1A2, encoding α1 and α2 of the collagen, regardless of their phenotypic severity (1 to 5 OI type).

This observation suggests the existence of a undetermined mechanism that may be found in epigenetic regulation, including particularly micro Ribonucleic Acids (miRs).

Indeed, these small non-coding miRs are involved in the regulation of major steps of cellular processes in different pathologies, especially in bone disease.

Currently, no study can provide a satisfactory answer.

This is an etiologic study to reveal the correlation between micro-RNAs (miR) expression and the type I or III of the Osteogenesis Imperfecta (OI).

The aim of this study is therefore to identify miRs significantly associated with the severity of OI.


Eligibility criteria: Inclusion Criteria:

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 Criteria:

* 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

Primary outcomes:
measure: micro Ribonucleic Acids (miRs) expression in serum of the patients Osteogenesis imperfecta (OI) type I or III versus control population
timeFrame: up to 1 month (after inclusion)
Secondary outcomes:
measure: Nature of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )
timeFrame: Up to 1 month (after inclusion)
measure: Level of expression of micro Ribonucleic Acids (miRs) identified by Next-Gen Sequencing (NGS )
timeFrame: Up to 1 month (after inclusion)
measure: Presence of fracture
timeFrame: Up to 1 month (after inclusion)
measure: Presence of biochemical markers of bone turnover in blood
timeFrame: Up to 1 month (after inclusion)
measure: Bone pain
timeFrame: Up to 1 month (after inclusion)
measure: Quality of life
timeFrame: Up to 1 month (after inclusion)
measure: Assessment of environmental factors
timeFrame: Up to 1 month (after inclusion)
Other outcomes:
Locations:
city: Lyon
country: France
facility: Hôpital Edouard Herriot
Study officials:
affiliation: Hospices Civils de Lyon
name: Roland CHAPURLAT, PhD
role: PRINCIPAL_INVESTIGATOR
References: