Developing New Ways to Detect Respiratory Impairment Early in ALS
21 de septiembre de 2026 actualizado por: Jayakrishnan Nair, Thomas Jefferson University
Early Detection of Respiratory Impairments in ALS: A Novel Diagnostic Approach
The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The study will examine whether changes in breathing, magnetic resonance imaging (MRI) of the brainstem and spinal cord, and blood markers can identify early signs of ALS before major physical changes occur.
The main questions the study aims to answer are:
- Can changes in automatic breathing help identify early ALS-related changes?
- Can breathing measures distinguish people with ALS from people without ALS?
- Do people with genetic risk for ALS who show changes in breathing also have changes in the brainstem and spinal cord or higher levels of blood markers associated with nerve damage?
Participants will complete breathing and muscle function tests, an MRI scan of the brainstem and spinal cord, and blood testing. The study will include people with ALS, people with genetic risk for ALS who do not yet have symptoms, and healthy adults for comparison.
Descripción general del estudio
Estado
Estado
Reclutamiento
Condiciones
Condiciones
Tipo de estudio
Tipo de estudio
De observación
Inscripción (Estimado)
Inscripción
70
Contactos y Ubicaciones
Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.
Estudio Contacto
Estudio Contacto
- Nombre: Jayakrishnan Nair, PhD, PT
- Número de teléfono: 352-871-5888
- Correo electrónico: Jayakrishnan.Nair@jefferson.edu
Copia de seguridad de contactos de estudio
- Nombre: Dana Johnson, DPT
- Número de teléfono: 215-326-9153
- Correo electrónico: dana.johnson@jefferson.edu
Ubicaciones de estudio
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Pennsylvania
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Philadelphia, Pennsylvania, Estados Unidos, 19107
- Reclutamiento
- Thomas Jefferson University - Center City
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Contacto:
- Jayakrishnan Nair, PhD, PT
- Número de teléfono: 352-871-5888
- Correo electrónico: Jayakrishnan.Nair@jefferson.edu
-
Contacto:
- Dana Johnson, DPT
- Número de teléfono: 215-326-9153
- Correo electrónico: Dana.Johnson@jefferson.edu
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Investigador principal:
- Jayakrishnan Nair, PhD, PT
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Criterios de participación
Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.
Criterio de elegibilidad
Criterio de elegibilidad
Edades elegibles para estudiar
18 años y mayores (Adulto, Adulto Mayor)
Acepta Voluntarios Saludables
Sí
Géneros elegibles para el estudio
Todos
Método de muestreo
Muestra no probabilística
Población de estudio
The study population will include adults with symptomatic ALS, asymptomatic or presymptomatic individuals with genetic variants associated with ALS, and healthy age- and sex-matched controls. Participants with ALS or genetic risk for ALS will be recruited from Thomas Jefferson University and other ALS patient inventories and referral sources.
Descripción
Inclusion Criteria:
- Symptomatic participants with ALS must have an ALS Functional Rating Scale-Revised (ALSFRS-R) score of 47/48 or less at the time of recruitment.
- Asymptomatic/presymptomatic participants must have a pathogenic C9orf72 expansion of at least 25 repeats or a similar genetic abnormality known to be associated with ALS.
- Healthy control participants must have no clinically identifiable neurological deficits based on medical history and screening. -
Exclusion Criteria:
- Any safety concern or contraindication to MRI based on MRI safety screening.
- Healthy control participants who do not pass the neurological screening.
- Pregnancy.
- Metal implants above the waist, including cardiac pacemakers or brain, neck, cervical, or thoracic implants.
- Neurocognitive impairment.
- Inability or unwillingness to provide informed consent.
- Younger than 18 years of age.
Plan de estudios
Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.
¿Cómo está diseñado el estudio?
Detalles de diseño
- Modelos observacionales: COHORT
- Perspectivas temporales: PROSPECTIVE
Número de grupos/cohortes
3
Cohortes e Intervenciones
Grupo / CohorteGrupo / Cohorte |
|---|
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Symptomatic Amyotrophic Lateral Sclerosis
Participants with symptomatic amyotrophic lateral sclerosis (ALS), including familial or sporadic ALS, who have clinical evidence of disease. This group will undergo study assessments to characterize respiratory function and biomarkers associated with ALS. |
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Asymptomatic/Presymptomatic ALS Gene Carriers
Participants who carry a genetic variant associated with amyotrophic lateral sclerosis but do not have clinical symptoms or functional deficits associated with ALS. This group will be evaluated for early or subclinical changes in respiratory function and other biomarkers associated with ALS. |
|
Healthy Controls
Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments. |
¿Qué mide el estudio?
Medidas de resultado primarias
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction
Periodo de tiempo: During the single study visit
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A linear prediction risk score combining airway occlusion pressure at 0.1 seconds (P0.1) and chemosensitivity will be developed to distinguish symptomatic ALS participants with respiratory dysfunction from healthy controls. Diagnostic performance of the risk score will be evaluated using the area under the receiver operating characteristic curve (ROC-AUC), and an optimal cutoff will be determined. The resulting cutoff will subsequently be used to identify subclinical respiratory impairment in asymptomatic/presymptomatic ALS gene carriers. |
During the single study visit
|
Medidas de resultado secundarias
Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Fractional Anisotropy of the Brainstem and Cervical Spinal Cord
Periodo de tiempo: During the single study visit
|
Fractional anisotropy (FA) will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. FA will be compared among healthy controls and asymptomatic/presymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment. |
During the single study visit
|
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Axial Diffusivity of the Brainstem and Cervical Spinal Cord
Periodo de tiempo: During the single study visit
|
Axial diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic/presymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment. |
During the single study visit
|
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Radial Diffusivity of the Brainstem and Cervical Spinal Cord
Periodo de tiempo: During the single study visit
|
Radial diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic/presymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment. |
During the single study visit
|
|
Mean Diffusivity of the Brainstem and Cervical Spinal Cord
Periodo de tiempo: During the single study visit
|
Mean diffusivity will be derived from diffusion tensor imaging of the brainstem and cervical spinal cord to evaluate microstructural abnormalities associated with ALS. Measurements will be compared among healthy controls and asymptomatic/presymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment. |
During the single study visit
|
|
Plasma Neurofilament Light Chain (Nf-L) Level
Periodo de tiempo: During the single study visit
|
Neurofilament light chain (Nf-L) levels in plasma will be measured as a blood-based marker of neurodegeneration. Plasma Nf-L levels will be compared among healthy controls and asymptomatic/presymptomatic ALS gene carriers who test positive or negative for automatic breathing impairment to determine whether respiratory impairment is associated with greater evidence of neurodegeneration. |
During the single study visit
|
|
Serum Neurofilament Light Chain (Nf-L) Level
Periodo de tiempo: During the single study visit.
|
Neurofilament light chain (Nf-L) levels in serum will be measured as a blood-based marker of neurodegeneration. Serum Nf-L levels will be evaluated in relation to automatic breathing impairment and compared across study groups as an additional blood-based biomarker of ALS-related neurodegeneration. |
During the single study visit.
|
Colaboradores e Investigadores
Aquí es donde encontrará personas y organizaciones involucradas en este estudio.
Patrocinador
Patrocinador
Colaboradores
Colaboradores
Publicaciones y enlaces útiles
La persona responsable de ingresar información sobre el estudio proporciona voluntariamente estas publicaciones. Estos pueden ser sobre cualquier cosa relacionada con el estudio.
Publicaciones Generales
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Fechas de registro del estudio
Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.
Fechas importantes del estudio
Inicio del estudio (Estimado)
Inicio del estudio
1 de septiembre de 2026
Finalización primaria (Estimado)
Finalización primaria
31 de marzo de 2028
Finalización del estudio (Estimado)
Finalización del estudio
31 de marzo de 2028
Fechas de registro del estudio
Enviado por primera vez
Enviado por primera vez
21 de septiembre de 2026
Primero enviado que cumplió con los criterios de control de calidad
Primero enviado que cumplió con los criterios de control de calidad
21 de septiembre de 2026
Publicado por primera vez (Actual)
Publicado por primera vez
28 de septiembre de 2026
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización publicada
28 de septiembre de 2026
Última actualización enviada que cumplió con los criterios de control de calidad
Última actualización enviada que cumplió con los criterios de control de calidad
21 de septiembre de 2026
Última verificación
Última verificación
1 de septiembre de 2026
Más información
Términos relacionados con este estudio
Palabras clave
- Imagen de resonancia magnética
- Biomarcadores
- función pulmonar
- La esclerosis lateral amiotrófica
- Neuroimagen
- Riesgo genético
- Cadena ligera de neurofilamento
- fuerza de los músculos respiratorios
- Diagnostico temprano
- Enfermedad de Lou Gehrig
- Tronco encefálico
- respiratory control
- impulso respiratorio
- hipóxico
- Función respiratoria
- hipercápnico
- Enfermedad de la neuronas motoras
- Electromiografía de superficie
- Médula espinal
- Insuficiencia respiratoria
- Respiratory biomarkers
- Presymptomatic amyotrophic lateral sclerosis
- Respiratory muscle function
- automatic breathing
- respiratory weakness
Términos MeSH relevantes adicionales
- Enfermedades del Sistema Nervioso Central
- Enfermedades del Sistema Nervioso
- Procesos Patológicos
- Enfermedades Neuromusculares
- Enfermedades metabólicas
- Enfermedades de las vías respiratorias
- Trastornos de la respiración
- Enfermedades neurodegenerativas
- Signos y Síntomas Respiratorios
- Enfermedades de la médula espinal
- Proteinopatías TDP-43
- Deficiencias de proteostasis
- Condiciones Patológicas, Signos y Síntomas
- Enfermedades Nutricionales y Metabólicas
- Signos y síntomas
- Insuficiencia respiratoria
- Enfermedad
- Aspiración Respiratoria
- Hipoxia
- Enfermedad de la neuronas motoras
- La esclerosis lateral amiotrófica
- Hipercapnia
- Enfermedad de Charcot-Marie-Tooth, Tipo 1F
Otros números de identificación del estudio
Otros números de identificación del estudio
- 22D.834
- 1R21NS145175-01A1 (Subvención/contrato del NIH de EE. UU.)
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
SÍ
Descripción del plan IPD
De-identified individual participant data underlying the results reported in study publications will be shared. Data may include demographic and clinical data, functional respiratory measurements, brainstem and spinal cord MRI data, and blood biomarker data, including neurofilament light chain measurements. Data will be shared without direct participant identifiers and in accordance with applicable data use agreements and institutional requirements.
Marco de tiempo para compartir IPD
Data will become available at the time of publication or by the end of the funding period, whichever occurs first. Data supporting a publication may be made available when the associated preprint is available. The duration of data preservation will be determined by the applicable repository and/or Thomas Jefferson University.
Criterios de acceso compartido de IPD
De-identified data will be available to qualified investigators for research purposes. Requests for controlled-access data will be reviewed by a data-sharing committee for scientific merit and feasibility. A Data Use Agreement will be required before transfer of controlled-access data. Investigators receiving data must agree to use the data only for research purposes, not attempt to identify individual participants, and maintain appropriate data security. Public imaging datasets may be accessed through the applicable imaging repository.
Tipo de información de apoyo para compartir IPD
- PROTOCOLO DE ESTUDIO
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
No
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
No
Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .