Sleep Profile of Patients With Septo-optic Dysplasia

NCT06262152 | Recruiting DMC

• 1 other identifier: 49187/2023
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

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.

Conditions

Septo-Optic Dysplasia; Agenesis of Corpus Callosum; Blindness

Keywords

sleep; actigraphy; brain malformation; visual deficit; SOD; genesis of corpus callous; pediatric patients

Outcome Measures

Primary Outcomes (1)

• Sleep profile ( Sleep quality, sleep efficiency) of patients with SOD

  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 Outcomes (2)

• melatonin profile of patients with SOD

  12 months

• Sleep EEG description of patients with SOD

  12 months

Study Arms (1)

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

Interventions

Actigraphy, blood and salivary sample, and sleep evaluation 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

Patients with Septo-optic dysplasia, visual deficit and agenesis of corpus callosum

Eligibility Criteria

• Age: 3 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• IRCCS National Neurological Institute "C. Mondino" Foundation: lead

Study Sites (1)

IRCCS Casimiro Mondino Foundation

Pavia, PV, 27100, Italy

RECRUITING

Related Publications (1)

• 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.

  PMID: 39819934 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood; saliva

MeSH Terms

Conditions

Septo-Optic Dysplasia; Agenesis of Corpus Callosum; Blindness; Vision Disorders

Interventions

Actigraphy; Blood Specimen Collection

Condition Hierarchy (Ancestors)

Congenital Cranial Dysinnervation Disorders; Oculomotor Nerve Diseases; Ocular Motility Disorders; Cranial Nerve Diseases; Nervous System Diseases; Nervous System Malformations; Optic Nerve Hypoplasia; Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Sensation Disorders; Neurologic Manifestations; Signs and Symptoms

Intervention Hierarchy (Ancestors)

Monitoring, Physiologic; Diagnostic Techniques and Procedures; Diagnosis; Accelerometry; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Punctures; Surgical Procedures, Operative

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 30, 2024
• First Posted: February 15, 2024
• Study Start: December 20, 2023
• Primary Completion: January 20, 2024
• Study Completion: May 20, 2025
• Last Updated: February 15, 2024

Record last verified: 2024-02

Locations

IT (1)