- ICH GCP
- Registro de ensayos clínicos de EE. UU.
- Ensayo clínico NCT03718923
Síndrome FOXP1: El Centro de Investigación y Tratamiento del Autismo Seaver está caracterizando los trastornos del neurodesarrollo relacionados con FOXP1 utilizando medidas genéticas, médicas y neuropsicológicas.
Centro de Investigación y Tratamiento del Autismo Seaver - Evaluación básica
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.
Descripción general del estudio
Estado
Descripción detallada
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 de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Seaver Autism Center
- Número de teléfono: 212-241-0961
- Correo electrónico: TheSeaverCenter@mssm.edu
Ubicaciones de estudio
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New York
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New York, New York, Estados Unidos, 10029
- Reclutamiento
- The Seaver Autism Center for Research and Treatment
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Contacto:
- Seaver Autism Center
- Número de teléfono: 212-241-0961
- Correo electrónico: TheSeaverCenter@mssm.edu
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
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.
Descripción
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
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: CROSS_SECTIONAL
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Autism Diagnostic Observation Schedule (ADOS)
Periodo de tiempo: 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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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Autism Diagnostic Interview - Revised (ADI-R)
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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
Periodo de tiempo: 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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Colaboradores e Investigadores
Patrocinador
Colaboradores
Investigadores
- Investigador principal: Paige Siper, Ph.D., Icahn School of Medicine at Mount Sinai
- Investigador principal: Elodie Drapeau, Ph.D., Icahn School of Medicine at Mount Sinai
- Investigador principal: Reymundo Lozano, M.D., Icahn School of Medicine at Mount Sinai
- Investigador principal: Alexander Kolevzon, MD, Icahn School of Medicine at Mount Sinai
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
- Manifestaciones neurológicas
- Enfermedades del Sistema Nervioso
- Desordenes mentales
- Manifestaciones neuroconductuales
- Trastornos del neurodesarrollo
- Trastornos del desarrollo infantil generalizados
- Desordenes comunicacionales
- Condiciones Patológicas, Signos y Síntomas
- Signos y síntomas
- Desorden del espectro autista
- Discapacidades del desarrollo
- Discapacidad intelectual
- Dificultades de aprendizaje
Otros números de identificación del estudio
- GCO 98-436 - A
Plan de datos de participantes individuales (IPD)
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Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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