NCT05419960

Brief Summary

The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype. OI patients aged 12 to 20 years will undergo an audiometric, immittance, and vestibular assessment. When hearing loss is conductive or mixed or in cases where vestibular deficits are identified, a CT scan without injection will be performed. In case of sensorineural hearing loss or abnormal CT results, an MRI will be performed.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
44

participants targeted

Target at P25-P50 for all trials

Timeline
20mo left

Started Dec 2022

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress68%
Dec 2022Dec 2027

First Submitted

Initial submission to the registry

May 12, 2022

Completed
1 month until next milestone

First Posted

Study publicly available on registry

June 15, 2022

Completed
6 months until next milestone

Study Start

First participant enrolled

December 22, 2022

Completed
5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 22, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 22, 2027

Last Updated

September 12, 2025

Status Verified

September 1, 2025

Enrollment Period

5 years

First QC Date

May 12, 2022

Last Update Submit

September 5, 2025

Conditions

Osteogenesis Imperfecta

Keywords

Osteogenesis imperfectaVestibular deficitsCorrelation between vestibular impairment and radiological findingsBone abnormalitiesSeverity of the deafness

Outcome Measures

Primary Outcomes (5)

  • Central Vestibular Function

    Is evaluated by videonystagmography (VNG). The purpose of this test battery is to separate the vestibular disorders from disorders of the central neural system. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta.

    24 months

  • Subjective Visual Vertical (SVV)

    Utricular Function Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta. The patient is asked to orient a line on the vertical axis. An angle of 3 degrees from the vertical indicates an otolithic utricular disorder. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal.

    24 months

  • Ocular Vestibular Evoked Myogenic Potential (oVEMP)

    Utricular Function Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta. The oVEMP assesses utricular function and reflects the function of the vestibular nuclei and the crossed vestibulo-ocular reflex (VOR) pathways, mostly contained in the medial longitudinal fasciculus (MLF). Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal.

    24 months

  • Semi-circular canal function

    Video Head Impulse Test (vHIT). The vHIT assesses the vestibular ocular reflex linked to the semi-circular canal function when stimulated at a high frequency. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta.

    24 months

  • Cervical Vestibular Evoked Myogenic Potential (cVEMP)

    Saccular Function Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta. The cVEMP assesses the saccular function via the saccular cervical reflex (sternocleidomastoid muscle's activation secondary to saccular auditory stimulation). Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. The otolith organs are comprised of the vestibular saccule and utricule. The cVEMP assesses the saccular function via the saccular cervical reflex (sternocleidomastoid muscle's activation secondary to saccular auditory stimulation). Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta.

    24 months

Secondary Outcomes (6)

  • Immittance testing

    24 months

  • Pure-tone audiometry

    24 months

  • Speech Audiometry

    24 months

  • Severity of OI

    24 months

  • Petrous bone Computed Tomography (CT)

    24 months

  • +1 more secondary outcomes

Study Arms (1)

Patients

Patients between the ages of 12-20 years with a diagnosis of Osteogenesis Imperfecta of any type and followed by a physician at the Centre de Référence des Maladies Rares des maladies osseuses constitutionnelles (CRMR OI) of Hôpital Necker-Enfants malades.

Diagnostic Test: Vestibular AssessmentDiagnostic Test: Petrous bone Computed Tomography (CT)Diagnostic Test: Magnetic Resonance Imaging (MRI)

Interventions

Vestibular AssessmentDIAGNOSTIC_TEST

During the usual hearing assessment (immittance testing and pure-tone and speech audiometry) carried out by patients, a vestibular assessment will be done for the study to detect vestibular disorders: * Videonystagmography (VNG) Is the study of eye movement with the help of infrared googles. * Subjective Visual Vertical (SVV) The patient is asked to orient a line on the vertical axis. * Video Head Impulse Test (vHIT) * Cervical and Ocular Vestibular Evoked Myogenic Potential (cVEMP and oVEMP)

Patients
Petrous bone Computed Tomography (CT)DIAGNOSTIC_TEST

For patients diagnosed with hearing loss, whether conductive, mixed, and/or a vestibular deficit, a CT scan (without injection) will be proposed for their care. Petrous bone Computed Tomography (CT) is an imaging technique used as the standard method of evaluation of the boney structures in the ear.

Patients
Magnetic Resonance Imaging (MRI)DIAGNOSTIC_TEST

Patients that have done a CT and for who CT results was abnormal, will additionally require an MRI for their standard care. Magnetic Resonance Imaging (MRI) is an imaging technique used as the standard method of evaluation of the cochlear, retrocochlear and central and peripheral nervous system. An injection of Gadolinium contrast media will be used to enhance certain recordings.

Patients

Eligibility Criteria

Age12 Years - 20 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Adolescents and young adults with a diagnosis of Osteogenesis Imperfecta of any type and followed by a physician at the Centre de Référence des Maladies Rares des maladies osseuses constitutionnelles (CRMR OI) of Hôpital Necker-Enfants malades.

You may qualify if:

  • Diagnosis of Osteogenesis Imperfecta of any type
  • Currently followed by a physician at the CRMR OI
  • Information and non-opposition of major patients, holders of parental authority and minor patients to participate in the study

You may not qualify if:

  • Patients with hearing loss of alternate origin e.g. Cochlear nerve deficiency, atresia, etc.
  • Neurological or developmental deficits limiting participation
  • Cervico-occipital instability e.g. Chiari's malformation
  • Limitations in mobility of the spine e.g. scoliosis, spinal fractural fusion
  • Ophthalmologic pathologies e.g. strabism or severe refraction disorder
  • Patients under AME (State Medical Aid)
  • Protected adult patients, adults unable to express their consent, pregnant or breastfeeding women

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Osteogenesis Imperfecta

Interventions

Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

OsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCollagen DiseasesConnective Tissue DiseasesSkin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

TomographyDiagnostic ImagingDiagnostic Techniques and ProceduresDiagnosis

Study Officials

  • Natalie Loundon, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

  • Marine Parodi, MD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

Central Study Contacts

Natalie Loundon, MD, PhD

CONTACT

1 71 39 67 82natalie.loundon@aphp.fr

Hélène Morel

CONTACT

1 71 19 63 46helene.morel@aphp.fr

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 12, 2022

First Posted

June 15, 2022

Study Start

December 22, 2022

Primary Completion (Estimated)

December 22, 2027

Study Completion (Estimated)

December 22, 2027

Last Updated

September 12, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)