Sleep Profile of Patients With Septo-optic Dysplasia

NCT ID: NCT06262152

Last Updated: 2024-02-15

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 45 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-12-20
• Study Completion Date: 2025-05-20

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)

Conditions

Septo-Optic Dysplasia; Agenesis of Corpus Callosum; Blindness

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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

Actigraphy, blood and salivary sample, and sleep evaluation

Intervention Type: DIAGNOSTIC_TEST

• 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

Interventions

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

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• 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

• 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

• 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

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

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

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

• Minimum Eligible Age: 3 Years
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IRCCS National Neurological Institute "C. Mondino" Foundation

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

IRCCS Casimiro Mondino Foundation

Pavia, PV, Italy

Site Status: RECRUITING

Countries

Italy

Facility Contacts

Ludovica Pasca, MD

Role: primary

ludovica.pasca@mondino.it

00393337201551

Valentina Franco, MD

Role: backup

References

Pasca L, Morelli F, Catalano G, Quaranta CA, Vitali H, Ballante E, Dattrino F, Crema F, Rota P, Varesio C, De Giorgis V, Romaniello R, Signorini S, Franco V. Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study. BMJ Open. 2025 Jan 15;15(1):e090675. doi: 10.1136/bmjopen-2024-090675.

Reference Type: DERIVED

PMID: 39819934 (View on PubMed)

Other Identifiers

49187/2023

Identifier Type: -

Identifier Source: org_study_id