Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes

NCT05955794 | Unknown DMC

• 1 other identifier: 5802
• Study Type: interventional
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

Primary Study Objective The primary objective of the study is the definition of distinct vocal phenotypes and the development of an Explained Decision Support System (DSS) for the automatic detection of vocal patterns in relation to the syndrome from which the patients suffer Secondary:

1. 1.Perceptual and acoustic analysis of voice recordings
2. 2.Development of a voice recording collection system.

Conditions

Rare Diseases; Congenital Disorders

Outcome Measures

Primary Outcomes (3)

• Vocal Phenotype definition of frequencies

  Distinct vocal phenotypes of each syndrome will be extracted through Biovoice software. BioVoice allows the sequential analysis of several audio signals at once without any manual setting. The software allows the analysis of fundamental and formants frequency (measured in Hz).

  2 years

• Vocal Phenotype definition of irregularity

  The definition of irregularity of voices of each syndrome will be extracted through PRAAT software. PRAAT implements a method based on autocorrelation, applied to a time window of fixed size, and linear predictive coding. It requires the manual setting of some parameters. The software allows the analysis of irregularity, namely jitter that is the relative average perturbation (measured in absolute jitter =1N-1∑i=1N-1\|Ti-Ti+1\|).

  2 years

• Vocal Phenotype definition of noise

  The definition of irregularity of voices of each syndrome will be extracted through PRAAT software. PRAAT implements a method based on autocorrelation, applied to a time window of fixed size, and linear predictive coding. It requires the manual setting of some parameters. The software allows the analysis of noise (measured in dB).

  2 years

Secondary Outcomes (5)

• Perceptual and acoustic analysis of voice recordings

  2 years

• Other perceptual and acoustic analysis of voice recordings

  2 years

• Development of a system for collecting voice recordings - frequencies

  2 years

• Development of a system for collecting voice recordings - irregularities

  2 years

• Development of a system for collecting voice recordings - noise

  2 years

Study Arms (2)

patient group

OTHER

500 (400 syndromic patients plus 100 non-syndromic controls matched for gender and age)

Other: voice recordings

control group

OTHER

500 (400 syndromic patients plus 100 non-syndromic controls matched for gender and age)

Other: voice recordings

Interventions

voice recordings OTHER

Experimental treatment/procedure: The first recording will be made in the laboratory. The lab will have sound insulation (the sound-to-noise ratio of the room should be at least 30dB) to record the voice samples. Similar to the recordings made in the lab, parents/caregivers will be instructed on how to collect voice recordings at home several times during the day using a smartphone. Parents/caregivers will be asked to note down the patient's emotional state during each recording in a predefined protocol. All patients will undergo paediatric, morphological, neurocognitive and behavioural assessment, hearing and ENT evaluation, perceptual and acoustic voice analysis. Perceptual assessment will be done blind.The vowel recordings will be analysed by two software tools: Biovoice \[1\] and Praat \[2\].

control group; patient group

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Laboratory confirmation of the clinical diagnosis of one of the syndromes under investigation.
• Informed consent from parents, legal representatives or the patients themselves, according to the instructions of the hospital's Ethics Committee.

You may not qualify if:

• Concomitant acute inflammatory disease of the upper respiratory tract.
• Refusal to sign the informed consent to participate in the study.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead
• University of Florence: collaborator
• Campus Bio-Medico University: collaborator

Study Sites (1)

Fondazione Policlinico Universitario A. Gemelli Irccs

Roma, 00168, Italy

Location

MeSH Terms

Conditions

Rare Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: professor

Model Details: participants: 500 (400 syndromic patients plus 100 non-syndromic controls matched for gender and age). 400 patients suffering from different syndromes will be recruited, although the investigators will focus in particular on Down syndrome, Noonan, Costello, Smith-Magenis, Cri du Chat, 22q11 deletion, Williams, Crisponi, Rubinstein Taybi and CHARGE to analyse their vocal pattern characteristics. The choice of the listed conditions is guided by their prevalence in the population and previously reported peculiar vocal patterns. The patients recruited are those regularly followed by the Centre for Rare Diseases and Congenital Defects of the Agostino Gemelli IRCCS University Polyclinic Foundation, Rome. Voice recordings collected in the laboratory from syndromic patients will be analysed both perceptually and objectively and compared with a control group of non-syndromic patients, matched for age and gender.

Study Record Dates

• First Submitted: June 12, 2023
• First Posted: July 21, 2023
• Study Start: September 1, 2023
• Primary Completion: May 15, 2025
• Study Completion: September 20, 2025
• Last Updated: August 4, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)