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Osteogenesis ImperfectaAVOINCT05419960

Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta

An observational study of Osteogenesis Imperfecta, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial 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. Read more about this study

Who is it for?
Ages 12 to 20 years
Conditions the study is for
Osteogenesis Imperfecta
What is being tested?
Vestibular Assessment, Petrous bone Computed Tomography (CT) and Magnetic Resonance Imaging (MRI)
Type of treatment
Injection or infusion
How many people
44 participants
Where
1 siteFrance
Study dates
22 Dec 2022to 22 Dec 2027
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 12 to 20 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

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.

Who may be able to join

  • Patients between the ages of 12-20 years at the time of inclusion
  • 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

Who cannot join

  • 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

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

France1 site, 1 recruiting
  • Hôpital Necker-Enfants Malades

    Paris, 75015

    Natalie Loundon, MD, PhD, 1 71 39 67 82 ext. +33, natalie.loundon@aphp.fr

    Geneviève BAUJAT, MD

    Recruiting

Other trials in France

About this study

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.

Read the detailed description

Osteogenesis Imperfecta (OI), or Lobstein's disease, is a form of congenital osteoporosis, with a prevalence between 1/10,000 and 1/20,000 in France. As of 1979, four phenotypes have been described according to severity: moderate (type I), lethal (type II), severe (type III), and moderate-to-severe (type IV). OI exhibits phenotypic and genotypic variability, however, to date no correlations have been established between specific mutations and clinical presentation.

There is a well-established association between OI and hearing loss, however, the reported prevalence of hearing loss varies between 2% to 94.1%.

In patients with OI, Computed Tomography (CT) has revealed bone demineralization that progresses with age.

The extent of the hypodense areas on the CT corresponds to the type of hearing loss: conductive hearing loss is associated with lesions of the fissula ante fenestram and round and oval windows while mixed hearing loss is associated with additional retrofenestral lesions. Severity of hearing loss is positively correlated with OI-related bone damage in the petrous bone. Magnetic Resonance Imaging (MRI) has also revealed in the pericochlear lesions with soft tissue hypersignal and enhancement on contrast medium injection in the otic capsule. Bone demineralization has also been linked to vestibular deficits, and some studies have reported correlations between Osteogenesis Imperfecta and vestibular deficits in adult patients, however, this relationship is less clear.

The aim of the study is to determine whether vestibular deficits are also present in OI. Furthermore, the study will aim to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype. OI patients aged 12 to 20 years will be recruited and an audiometric, immittance, and vestibular assessment (videonystagmography, video Head Impulse Test (vHIT), vestibular evoked muscular potentials (cVEMP)) will be performed during their annual visit to the Centre de Référence des Maladies Rares des maladies osseuses constitutionnelles (henceforth CRMR OI) of Hôpital Necker-Enfants malades, Paris, France. When hearing loss is conductive, or mixed or in cases where vestibular deficits are identified, a CT scan without injection will be performed for the care. In case of sensorineural hearing loss, or abnormal CT results, an MRI will be proposed for the care. The investigation team will try to establish if there is a significant association between OI and vestibular deficit, and if so, whether the degree of vestibular impairment is correlated to radiological findings with respect to bone abnormalities, as well as the type and severity of the deafness.

Being tested
Vestibular Assessment, Petrous bone Computed Tomography (CT), Magnetic Resonance Imaging (MRI)
Keywords
Osteogenesis imperfecta, Vestibular deficits, Correlation between vestibular impairment and radiological findings, Bone abnormalities, Severity of the deafness
Medical subject headings
Osteogenesis Imperfecta

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • 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)
  • 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.

  • 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.

Study groups in NCT05419960
Study groupRoleWhat they receive
PatientsPatients 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.
Receives: Diagnostic Test: Vestibular Assessment; Diagnostic Test: Petrous bone Computed Tomography (CT); Diagnostic Test: Magnetic Resonance Imaging (MRI)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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.

    Measured: 24 months

  2. 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.

    Measured: 24 months

  3. 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.

    Measured: 24 months

  4. 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.

    Measured: 24 months

  5. 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.

    Measured: 24 months

Secondary outcomes (6)
  1. Immittance testing

    Audiological phenotype Immittance testing can indicate whether middle ear structures are in tact

    • Middle ear pressure and compliance of the tympanic membrane
    • Ipsilateral acoustic reflex thresholds

    Measured: 24 months

  2. Pure-tone audiometry

    Audiometry performance Pure tone audiometry is used to establish the type and degree of hearing loss. This measure is important to characterize the audiological phenotype. Hearing thresholds established in air and bone conduction between 250-8000Hz in each ear.

    Pure tone audiometry assessed as normal or abnormal Audiometry is considered abnormal if any threshold is greater than or equal to 25 dB HL.

    Measured: 24 months

  3. Speech Audiometry

    Audiometry performance Speech audiometry is used to establish the lowest intensity level in dB at which the patient can comprehend 50% of speech. This measure is important to confirm reliability of the pure tone audiometry, and to confirm that speech is both audible and intelligible.

    Speech audiometry assessed as normal or abnormal.

    Measured: 24 months

  4. Severity of OI

    OI medical diagnosis. The OI diagnosis is clinical, based on the following signs: ligament laxity, bluish discoloration of the sclera, hearing loss, vascular tissue abnormalities, hemostatic disorder, elevated basal metabolic rate, renal disorder, neurological disorder, history family.

    Depending on symptom severity, OI patient's diagnosis will be classified into on of four phenotypes : moderate (type I), lethal (type II), severe (type III), and moderate-to-severe (type IV).

    Measured: 24 months

  5. Petrous bone Computed Tomography (CT)

    CT is used to evaluate the presence and localization of petrous bone anomalies, for patients with conductive or mixed hearing loss and/or vestibular deficits.

    Measured: 24 months

  6. Magnetic Resonance Imaging (MRI)

    MRI is used to evaluate the presence and characteristics of anomalies of inner ear soft tissues, for patients with sensorineural hearing loss and for patients with abnormal CT scan results.

    Measured: 24 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted15 Jun 2022
  2. Study start22 Dec 2022
  3. Primary completion22 Dec 2027 (estimated)
  4. Study completion22 Dec 2027 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case only
Time perspective
Cross-sectional
Enrolment
44 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05419960
Sponsor's protocol ID
APHP220305
Other IDs
2022-A00375-38
Acronym
AVOI
Status last verified
Sep 2025
First submitted
12 May 2022
Last updated
12 Sep 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of Osteogenesis Imperfecta, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 12 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Natalie Loundon, MD, PhD (1 71 39 67 82 ext. +33, natalie.loundon@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Central Vestibular Function (time frame: 24 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Sep 2025.

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