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

Обзор

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.

Подробное описание

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.

Вмешательства

• Диагностический тест Vestibular Assessment
  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)
• Диагностический тест Petrous bone Computed Tomography (CT)
  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.
• Диагностический тест Magnetic Resonance Imaging (MRI)
  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.

Первичные конечные точки

• Central Vestibular Function [Срок оценки: 24 months]
• Subjective Visual Vertical (SVV) [Срок оценки: 24 months]
• Ocular Vestibular Evoked Myogenic Potential (oVEMP) [Срок оценки: 24 months]
• Semi-circular canal function [Срок оценки: 24 months]
• Cervical Vestibular Evoked Myogenic Potential (cVEMP) [Срок оценки: 24 months]

Вторичные конечные точки (6)

• Immittance testing [Срок оценки: 24 months]
• Pure-tone audiometry [Срок оценки: 24 months]
• Speech Audiometry [Срок оценки: 24 months]
• Severity of OI [Срок оценки: 24 months]
• Petrous bone Computed Tomography (CT) [Срок оценки: 24 months]
• Magnetic Resonance Imaging (MRI) [Срок оценки: 24 months]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Только случаи

Центры проведения

Франция · 1 центр

• Hôpital Necker-Enfants Malades — Paris

Идентификаторы

NCT: NCT05419960 · APHP220305 · 2022-A00375-38

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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