Septo-Optic DysplasiaNCT06262152
Sleep Profile of Patients With Septo-optic Dysplasia
An observational study of Septo-Optic Dysplasia and Agenesis of Corpus Callosum, run by IRCCS National Neurological Institute "C. Mondino" Foundation at 1 site in Italy.
Trial 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 /… Read more about this study
- Who is it for?
- Ages 3 to 18 years
- Conditions the study is for
- Septo-Optic Dysplasia, Agenesis of Corpus Callosum, Blindness
- What is being tested?
- Actigraphy, blood and salivary sample, and sleep evaluation
- How many people
- 45 participants
- Where
- 1 siteItaly
- Study dates
- 20 Dec 2023to 20 May 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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
Who may be able to join
- 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
Show all 13Show fewer
- 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
Who cannot join
- 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
Show all 10Show fewer
- melatonin assumption
- absence of informed consent
- severe Intellectual disability and/or severe motor impairment
- melatonin assumption
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Casimiro Mondino Foundation
Pavia, PV, 27100
Ludovica Pasca, MD, 00393337201551, ludovica.pasca@mondino.it
Valentina Franco, MD
About this study
Official title: 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.
Read the 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:
- identify which factors such as clinical and neuroanatomical features including sensory experience influence sleep outcome and how
- describe melatonin profile of patients with SOD
- 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)
- Being tested
- Actigraphy, blood and salivary sample, and sleep evaluation
- Keywords
- sleep, actigraphy, brain malformation, visual deficit, SOD, genesis of corpus callous, pediatric patients
- Medical subject headings
- Septo-Optic Dysplasia, Agenesis of Corpus Callosum, Blindness, Vision Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Actigraphy, blood and salivary sample, and sleep evaluationDiagnostic 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
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: Actigraphy, blood and salivary sample, and sleep evaluation |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 12 months
Secondary outcomes (2)
melatonin profile of patients with SOD
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).
Measured: 12 months
Sleep EEG description of patients with SOD
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).
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Feb 2024
- Study start20 Dec 2023
- Primary completion20 Jan 2024
- Study completion20 May 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Septo-Optic DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06262152
- Sponsor's protocol ID
- 49187/2023
- Status last verified
- Feb 2024
- First submitted
- 30 Jan 2024
- Last updated
- 15 Feb 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 39819934
Study at a glance
From the registry record, last updated by the sponsor on 15 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Sleep Features in Pediatric Patients With Septa-optic Dysplasia
- ClinicalTrials.gov ID
- NCT06262152
- Acronym / sponsor ID
- 49187/2023
- Keywords
- sleep, actigraphy, brain malformation, visual deficit, SOD, genesis of corpus callous, pediatric patients
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- IRCCS National Neurological Institute "C. Mondino" FoundationUniversity, hospital or other
- Study start
- 20 Dec 2023 (actual)
- Primary completion
- 20 Jan 2024 (actual)
- Study completion
- 20 May 2025 (estimated)
- First posted
- 15 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- identify which factors such as clinical and neuroanatomical features including sensory experience influence sleep outcome and how
- describe melatonin profile of patients with SOD
- 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Septo-optic dysplasia, visual deficit and agenesis of corpus callosum | – | Diagnostic Test: Actigraphy, blood and salivary sample, and sleep evaluation* 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 |
Who may qualify
- Ages
- 3 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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
Key inclusion criteria (13 listed)
- 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).
Key exclusion criteria (10 listed)
- absence of informed consent
- severe Intellectual disability and/or severe motor impairment
- melatonin assumption
- absence of informed consent
- CNS involvement ( malformations/ lesions)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Diagnostic test | Patients with Septo-optic dysplasia, visual deficit and agenesis of corpus callosum |
Primary outcome
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.
2 secondary outcomes
melatonin profile of patients with SOD
Time frame: 12 months
Sleep EEG description of patients with SOD
Time frame: 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Feb 2024.
- Derived from this study: PubMed 39819934Pasca 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Septo-Optic Dysplasia and Agenesis of Corpus Callosum, run by IRCCS National Neurological Institute "C. Mondino" Foundation at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 15 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sleep profile ( Sleep quality, sleep efficiency) of patients with SOD (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06262152, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Feb 2024.