Enlarged Vestibular Aqueduct Registry

Study design

The present study would employ a prospective questionnaire and retrospective chart review to
develop a centralized registry of EVA patient information. The questionnaire would be
administered using custom-designed software and an internet web site that uses secure
information transfer protocol and encryption. Given authorization for the release of
Protected Health Information (PHI), respective clinicians would be contacted for medical
records that would be entered alongside corresponding self-reported data. Interested
researchers will be allowed to obtain data, given their respective institution's
Institutional Review Board (IRB) approval and documentation thereof. The study would
initially continue for four years, and continue based on enrollment numbers and data
requests.

Study procedure

Collection methods would be chosen by the participant, and can include one or both of a
questionnaire and/or Authorization for the Release of PHI and relevant medical records
retrieval.

Implementation of this project would involve three separate components: participant data
collection and interaction, (if authorized) PHI retrieval, and data provision to interested
researchers.

Questionnaire Data Collection

Upon providing an electronic signature, participants will be taken to a page where they can
begin the questionnaire. Patients who begin the questionnaire will be presented with web
pages asking for history relating to EVA. Please note that these web pages all offer the
option to exit the questionnaire. Patients who elect to provide the Authorization for the
Release of PHI will be provided the form to print and mail to the study center (University
Hospitals Case Medical Center).

Clinical Data Retrieval and Data Quality

For those participants who do provide Authorization for the Release of PHI, the clinicians
whose information was included on the authorization form will be contacted and information
requested. This process would involve a transfer of the Authorization for the Release of PHI
in one of two ways: either by mail, or via fax. Clinicians who are willing to provide
information will be instructed to transmit, via fax or mail, health data to the
otolaryngology department at University Hospitals.

Health data that is received will be reviewed and input into forms similar to those that the
patients fill. Such a mechanism will provide redundancy to data provided by participants,
thus ensuring the quality of this data.

Providing Data to Researchers

The data that is collected will cover a range of topics related to EVA, and will be held with
the aim of providing subsets of the data to interested researchers who have IRB approval from
their own institutions. A form on the website will list fields for interested researchers to
complete, including upload of an IRB protocol. Interested researchers would also be required
to complete a Data Use Agreement.

Informed consent procedure

Consent will be obtained electronically and stored separately from patient data, such that
identifiable information will only be linked to healthcare data using a patient
identification (ID) number.

Potential participants who elect to visit the EVAR website would be presented with an option
to participate in the EVAR. From there, participants would be directed to an informed consent
web page that contains all of the same information that would be in a written informed
consent, a blank version of which is provided in attached documents. The web site would have
a field where participants can type their name and the date to signify consent, and another
field where participants (if applicable) can type their name and the date to signify assent.
Completion of such a field would be considered equivalent to written consent, and is referred
to in this document as an "electronic signature".

Only after completing an electronic consent would potential participants be allowed to share
questionnaire or authorization information. This means that before seeing the questionnaire
or authorization for the release of protected health information, the participant would be
required to provide electronic consent.

The consent document itself would be provided to all potential participants, in the form of a
downloadable Portable Document Format (PDF) file and as a separate html web page that does
not have a section where consent may be entered. This twofold approach will ensure that
potential participants can both view the consent in their web browser using the html version,
and print the PDF consent in the format that it was accepted by the University Hospitals IRB.

Authorization to Release PHI Procedure

After providing an electronic signature for the informed consent, participants will have the
opportunity to complete an Authorization to Release PHI form. Please see attachments for an
example of this form.

Participants who provide the information necessary to fill this form would be given the
option of printing the form for themselves, or receiving the form in the mail with return
postage. In either case, the form would be populated with participant-provided data and
provided such that only a participant signature and date would be needed to complete the
form. For participants who elect to receive the form in the mail, two copies would be
provided to allow the participant to keep one. In either case, participants would be asked to
sign and date the document and mail it to the Otolaryngology Department at University
Hospitals Case Medical Center (UHCMC). Original documents would be copied and, along with the
copy, stored in a locked cabinet that is in a normally locked office on the UHCMC campus.

Data security

Data transfer will occur using secure internet protocol, using computers physically located
on a University Hospitals campus.Participant information will be maintained in a secure,
HIPAA-compliant server located on a University Hospitals campus. Only database developers and
study personnel will have access to this data. For patients who provide Authorization to
release PHI, data will only be received via fax, mail, or through University Hospitals email,
and will be stored on secure University Hospitals servers.

Identifiable information will be protected from improper use or disclosure by storing data on
a secure server located on the University Hospitals campus. When submitting data over the
internet, participants will be connecting directly with University Hospitals servers using
secure https protocol such that there will be no data access to anyone outside of the
participant and server.

For patients who provide Authorization to release PHI, data will only be received via fax,
mail, or through University Hospitals email.

Identifiable information will not be reused or disclosed to any other person or entity
outside University Hospitals other than those identified in the protocol, except as required
by law, for authorized oversight of this research study, or as specifically approved for use
in another study by an IRB. Any access to the website or data itself will be reviewed on a
monthly basis.

Statistical analysis and sample size calculations

Data on such a wide variety of patient experience measures is unavailable to determine effect
sizes and subsequent minimum sample sizes, particularly for an end-point with likely high
variability such as self-reported hearing loss. For this reason, and to ensure greatest
possible discrimination of effects, the EVA registry will be open to as many people as are
willing to enroll. Previously, a mailing list for interested participants was created, and 53
people signed up over the course of three weeks. Sizes of online special interest groups
(such as the Yahoo group, http://health.groups.yahoo.com/group/LVAS) have between 1000 and
3000 registered users. Given mailing list interest, and other online community sizes, the
investigators expect 300 participants to enroll.

Statistical methods will be left to researchers who request this data, but the data has been
organized to facilitate descriptive and model-based statistical characterization of the EVA
population. Hearing loss progression may be evaluated in multiple dimensions, particularly in
relation to events such as head trauma or flying. For example, such categories of treatment
(head trauma, flying) are amenable to analysis with respect to outcomes (hearing loss
progression) by such tests as the Chi-square test. Other researchers may be interested in
understanding the time taken to diagnose EVA, in which case the interval between date of
birth and date of first imaging study can be modeled with respect to other available data
points.

Data elements to be collected:

Part 1 - Demographics:

- Relationship of respondent to patient

- Patient:

- Date of Birth

- Gender

- City

- State

- Guardian:

- Date of Birth

- Gender

- City

- State

- Contact:

- Email

- Phone

Part 2 - Initial Findings

- Age at diagnosis of hearing loss

- Diagnostic method

- Audiogram, Otoacoustic Emissions Testing, Auditory Brainstem Response, or other?

- Age at first imaging study

- First image type

- Computed Tomography (CT) or Magnetic Resonance Imaging (MRI)?

- Imaging results

- Which ear has EVA

- Left, right, or both

- Diameter of the vestibular aqueduct

Part 3 - Progression

- Has there been progression of hearing loss?

- Date and age of progression of hearing loss diagnosis - also, commands?

- Events that contributed to hearing loss, open text box

- Did the family notice hearing loss or its event

- Was the hearing loss recognized coincidentally on a hearing screen/routine audiogram?

- Was the patient treated for hearing loss?

- Check boxes for treatment with steroids or other

Part 4 - Trauma and Flying

- Has the patient had any documented head trauma?

- Date and age of trauma - also, commands?

- Was there any associated hearing loss?

- What additional testing was performed, if any?

- Was additional imaging done?

- Has the patient flown?

- Was there any subjective worsening of hearing?

- Was additional testing required after flying?

Part 5 - Family History

- Is there any family history of hearing loss?

- Is there any family history of EVA?

- Has any genetics testing been completed?

- If so, what type of testing?

- At what age?

- What were the results?

- Does the patient have Pendred syndrome?

Part 6 - Aids

- Does the patient receive speech therapy?

- If so, how often?

- At what age did speech therapy begin?

- Does the patient use a Frequency Modulation (FM) system at school?

- Does the patient use a hearing aid?

- If so, in which ear?

- Starting at what year of age?

- Does the patient have a cochlear implant?

- If so, in which ear?

- What year was the operation performed?

- If two implants, were they done at the same time?

- At what age was the operation performed?

- How long after diagnosis of hearing loss was the operation performed?

- How long after diagnosis of EVA was the operation performed?

Part 7 - Vertigo

- Has the patient ever had balance problems or vertigo?

- If so, how frequently?

- How severe?

- Are there triggering activities?

- At what age was the first episode?

- How long after diagnosis did vertigo occur?

Inclusion Criteria:

- Self-reported diagnosis of Enlarged Vestibular Aqueduct OR

- Radiological diagnosis of Enlarged Vestibular Aqueduct

Exclusion criteria: