Clinical trial NCT06262152: Sleep Profile of Patients With Septo-optic Dysplasia
Official title: Characterization of Sleep Features in Pediatric Patients With Septa-optic Dysplasia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Septo-Optic Dysplasia
Agenesis of Corpus Callosum
Blindness
Keywords: sleep
actigraphy
brain malformation
visual deficit
SOD
genesis of corpus callous
pediatric patients
Lead sponsor: IRCCS National Neurological Institute "C. Mondino" Foundation
Sponsor class: OTHER
First posted: 2024-02-15
Enrollment: 45
Sex: ALL
Minimum age (years): 3
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

Brief summary: 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.

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)

Eligibility criteria: 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

Primary outcomes:
measure: Sleep profile ( Sleep quality, sleep efficiency) of patients with SOD
timeFrame: 12 months
Secondary outcomes:
measure: melatonin profile of patients with SOD
timeFrame: 12 months
measure: Sleep EEG description of patients with SOD
timeFrame: 12 months
Other outcomes:
Locations:
city: Pavia
country: Italy
facility: IRCCS Casimiro Mondino Foundation
state: PV
Study officials:
References: