Sleep Profile of Patients With Septo-optic Dysplasia

February 8, 2024 updated by: IRCCS National Neurological Institute "C. Mondino" Foundation

Characterization of Sleep Features in Pediatric Patients With Septa-optic Dysplasia

The aim of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present SOD but associated to other features / structural and functional anomalies.

Included patients and their caregivers will be asked to compile standardize sleep questionnaires and a sleep screening through an interview will be scheduled. Patients will be asked to wear an actigraph on their non-dominant hand wrist for 7 days.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

The primary objective of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present SOD but associated to other features / structural and functional anomalies.

The secondary aims of this study are the following:

  1. identify which factors such as clinical and neuroanatomical features including sensory experience influence sleep outcome and how
  2. describe melatonin profile of patients with SOD
  3. describe sleep EEG of patients with SOD

Three groups of patients will be included:

  • Group A: patients with septo-optic dysplasia
  • Group B: patients with disorder of peripheral visual system
  • Group C: patients with Corpus Callosum agenesis

This is an observational monocentric study. The procedures in the study that are not included in current clinical practice in the follow-up pathway of the included patients are the following:

  • administration of standardized sleep questionnaires (Pittsburgh Sleep Quality Index: self-completed questionnaire assessing sleep quality over a 1-month time interval;Epworth Sleepiness Scale: self-completed questionnaire assessing daytime sleepiness; Children sleep habits questionnaire)
  • 7 days actigraph recording through wearing of Actiwatch spectrum plus at home
  • Performance of Sleep EEG
  • Performance of blood and salivary sampling for melatonin dosing (for each subject, one 4 mL blood and one 2 mL saliva samples will be collected at each assessment)

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
45

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
    • PV
      • Pavia, PV, Italy, 27100
        • Recruiting
        • IRCCS Casimiro Mondino Foundation
        • Contact:
        • Contact:
          • Valentina Franco, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Three groups of patients will be included:

  • Group A: 15 patients with septo-optic dysplasia
  • Group B: 15 patients with disorder of peripheral visual system
  • Group C: 15 patients with Corpus Callosum agenesis

Description

Inclusion criteria group A:

  • diagnosis of SOD or SOD plus syndrome with or without a defined genetic diagnosis
  • age 3-18 years
  • availability of at least 2 serial sleep EEGs performed during clinical follow-up
  • stable drug therapy in the last three months

Inclusion criteria group B:

  • diagnosis of congenital or early acquired isolated peripheral visual deficit with or without a known genetic diagnosis (e.g., congenital cataract, inherited retinal dystrophies, isolated eye maldevelopment).
  • age 3-18 years
  • grating or visual acuity < 3/10
  • availability of serial sleep EEGs performed during clinical follow-up
  • stable drug therapy in the last three months

Inclusion criteria group C

  • isolated corpus callosum agenesis at brain MRI
  • age 3-18 years
  • availability of at least 2 serial sleep EEGs performed during clinical follow-up
  • stable drug therapy in the last three months

Exclusion criteria group A:

  • absence of informed consent
  • severe Intellectual disability and/or severe motor impairment
  • melatonin assumption

Exclusion criteria group B:

  • absence of informed consent
  • CNS involvement ( malformations/ lesions)
  • severe Intellectual disability and/or severe motor impairment
  • melatonin assumption

Exclusion criteria group C

  • absence of informed consent
  • severe Intellectual disability and/or severe motor impairment
  • melatonin assumption

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Patients with Septo-optic dysplasia, visual deficit and agenesis of corpus callosum
  • age 3-18 years
  • availability of at least 2 serial sleep EEGs performed during clinical follow-up
  • stable drug therapy in the last three months
Diagnostic test: Actigraphy, blood and salivary sample, and sleep evaluation
  • For each subject, one 4 mL blood and one 2 mL saliva samples will be collected at each assessment.
  • 7 days actigraph recording through wearing of Actiwatch spectrum plus at home
  • Standardized sleep questionnaire administration

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Sleep profile ( Sleep quality, sleep efficiency) of patients with SOD
Time Frame: 12 months

SLEEP QUALITY will be assessed through standardized questionnaires :Pittsburgh Sleep Quality Index: self-completed questionnaire ;Epworth Sleepiness Scale: self-completed questionnaire assessing daytime sleepiness; Children sleep habits questionnaire .

Sleep quality and sleep-wake cycle will be evaluated, namely Child's inability to go to bed, the delay in falling asleep, sleep duration, overnight awakenings, anxiety related to sleep, parasomnia, respiratory disorders, and daytime sleepiness.

SLEEP EFFICIENCY will be measured by actigraphic assessment of sleep efficiency (the ratio of total sleep time to sleep period), total nighttime sleep duration, rest activity and number of awakenings.
12 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
melatonin profile of patients with SOD
Time Frame: 12 months
For each subject, blood and and saliva samples will be collected and Serum and salivary concentrations of melatonin and of its main metabolite 6-hydroxymelatonin will be measured in samples collected from all patients by using a validated LC-MS method with minor modifications (Magliocco et al 2021).
12 months
Sleep EEG description of patients with SOD
Time Frame: 12 months
A Sleep EEG recording will also be scheduled at the time of study inclusion/evaluation. Previously performed EEG will be revised. EEG assessment will include the analysis of background activity, presence/absence of physiological sleep elements, interictal discharges, sleep macrostructure and microstructure ( spindle characteristics).
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
IRCCS National Neurological Institute "C. Mondino" Foundation

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 20, 2023

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 20, 2024

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 20, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 30, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 8, 2024

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
February 15, 2024

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
February 15, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 8, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 49187/2023

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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