- ICH GCP
- Registro degli studi clinici negli Stati Uniti
- Sperimentazione clinica NCT03718923
Sindrome FOXP1: il Seaver Autism Center for Research and Treatment sta caratterizzando i disturbi dello sviluppo neurologico correlati a FOXP1 utilizzando misure genetiche, mediche e neuropsicologiche.
Il Seaver Autism Center for Research and Treatment - Assessment Core
FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild dysmorphic features, and traits of autism spectrum disorder. This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Panoramica dello studio
Stato
Descrizione dettagliata
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.
Tipo di studio
Iscrizione (Stimato)
Contatti e Sedi
Contatto studio
- Nome: Seaver Autism Center
- Numero di telefono: 212-241-0961
- Email: TheSeaverCenter@mssm.edu
Luoghi di studio
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New York
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New York, New York, Stati Uniti, 10029
- Reclutamento
- The Seaver Autism Center for Research and Treatment
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Contatto:
- Seaver Autism Center
- Numero di telefono: 212-241-0961
- Email: TheSeaverCenter@mssm.edu
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Criteri di partecipazione
Criteri di ammissibilità
Età idonea allo studio
Accetta volontari sani
Sessi ammissibili allo studio
Metodo di campionamento
Popolazione di studio
Individuals for this cohort study will be selected from any population, provided that they have a variant in the FOXP1 gene and meet eligibility requirements.
Descrizione
Inclusion Criteria:
- Eligible participants must have a documented variant affecting the FOXP1 gene that the research team determines to be likely or definitely pathogenic.
- Eligible participants must be at least 2 years of age.
Exclusion Criteria:
- none
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
- Modelli osservazionali: COHORT
- Prospettive temporali: CROSS_SECTIONAL
Cosa sta misurando lo studio?
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
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Autism Diagnostic Observation Schedule (ADOS)
Lasso di tempo: Day 1
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The ADOS is a structured, play-based assessment of communication, social interaction and behavior in individuals (children and adults) suspected of having a diagnosis of Autism Spectrum Disorder. The examiner will select 1 of 4 different ADOS modules, which differ based on chronological age and verbal fluency, to use for the individual being assessed. An Overall Total score >= 16, if the individual meets for the "few to no words" algorithm, or 12, if the individual meets for the "some words" algorithm, suggests autism in the individual. An Overall Total score of 11 to 15, if the individual meets for the "few to no words" algorithm, or 8 to 11, if the individual meets for the "some words" algorithm, suggests the individual is on the autism spectrum. An Overall Total score equal to or lower than 10, if the individual meets for "few to no words" algorithm, or 7, if the individual meets for the "some words" algorithm, classifies the individual as "non-spectrum" or not on the spectrum. |
Day 1
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Misure di risultato secondarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
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Autism Diagnostic Interview - Revised (ADI-R)
Lasso di tempo: Day 1
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The ADI-R is a standardized, semi-structured clinical assessment used to diagnose Autism Spectrum Disorder (ASD) in children and adults. The ADI-R is a structured interview administered by an examiner to the primary caregiver of children and adults suspected of having ASD. The assessment contains 93 items, scored from 0 (behavior not present) to 279 (severe or frequent behavior), A higher assessment score indicates poorer outcomes. |
Day 1
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Stanford-Binet Intelligence Scales
Lasso di tempo: Day 1
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The Stanford-Binet Intelligence Scales are a cognitive assessment measuring the five factors of fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing and working memory. The number of correct responses for the subtests is converted to a Standard Age Score, based on the chronological age of the individual being assessed. The Area Scores and Test Composite on the Stanford-Binet test have an average score of 100 and a standard deviation of 16. The converted score of the individual being assessed indicates where he/she is relative to the norm. A score exceeding 145 is classified as "Genius or near genius," and scores below 70 are classified as "Borderline deficiency." |
Day 1
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Differential Ability Scales (DAS)
Lasso di tempo: Day 1
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The DAS is a battery of cognitive and achievement testing for children 2.5-18 years old that is divided into Early Years and School-Age versions. The 20 subtests of the DAS are broken up into 17 cognitive and 3 achievement subtests. The scores of the test are categorized into i) General Conceptual Ability (GCA) which is based on the ability of the individual being assessed to perform complex mental processing involving transformation of information ii) cluster scores that indicate verbal, spatial and nonverbal reasoning abilities and iii) subtest scores that represent specific abilities or processes. The tests yield t-scores and percentiles by age. |
Day 1
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Mullen Scales of Early Learning
Lasso di tempo: Day 1
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The Mullen Scales of Early Learning are a clinical assessment used to measure cognitive ability and motor development in children ages 0-68 months on the five scales of Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. T-scores, percentile rankings, and age equivalents can be calculated for each of these five scales. |
Day 1
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Collaboratori e investigatori
Collaboratori
Investigatori
- Investigatore principale: Paige Siper, Ph.D., Icahn School of Medicine at Mount Sinai
- Investigatore principale: Elodie Drapeau, Ph.D., Icahn School of Medicine at Mount Sinai
- Investigatore principale: Reymundo Lozano, M.D., Icahn School of Medicine at Mount Sinai
- Investigatore principale: Alexander Kolevzon, MD, Icahn School of Medicine at Mount Sinai
Studiare le date dei record
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Inizio studio (Effettivo)
Completamento primario (Stimato)
Completamento dello studio (Stimato)
Date di iscrizione allo studio
Primo inviato
Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Effettivo)
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Effettivo)
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Parole chiave
Termini MeSH pertinenti aggiuntivi
- Manifestazioni neurologiche
- Malattie del sistema nervoso
- Disordini mentali
- Manifestazioni neurocomportamentali
- Disturbi del neurosviluppo
- Disturbi dello sviluppo infantile, pervasivi
- Disturbi della comunicazione
- Condizioni patologiche, segni e sintomi
- Segni e sintomi
- Disturbo dello spettro autistico
- Disabilità dello sviluppo
- Disabilità intellettuale
- Difficoltà di apprendimento
Altri numeri di identificazione dello studio
- GCO 98-436 - A
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Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .