Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Patrocinadores

Patrocinador principal: National Institute of Neurological Disorders and Stroke (NINDS)

Fuente National Institutes of Health Clinical Center (CC)
Resumen breve

Background:

Neurodegenerative disorders can lead to problems in movement or memory. Some can cause abnormal proteins to build up in brain cells. Researchers want to understand whether these diseases have related causes or risk factors.

Objective:

To test people with movement or thinking and memory problems to see if they are eligible for research studies.

Eligibility:

People ages 18 and older with a neurodegenerative disorder associated with accumulation of TDP-43 or Tau proteins

Design:

Participants will have a screening visit. This may take place over 2-3 days. Tests include:

Medical history

Physical exam

Questions about behavior and mood

Tests of memory, attention, concentration, and thinking

Movement measurement. The speed at which participants can stand up from a chair, tap their finger and foot, and walk a short distance will be measured. Some movements will be videotaped. They will be videotaped while they speak and read a paragraph.

Blood tests. This might include genetic testing.

Lung and breathing tests

MRI. They will lie on a table that slides into a cylinder that takes pictures of the body. Some participants will get a dye through IV.

Electromyography. A thin needle will be inserted into the muscles to measure electrical signals.

Nerve tests. Small electrodes on the skin record muscle and nerve activity.

A small piece of skin may be removed.

A skin or blood sample may be taken to create stem cells.

Optional lumbar puncture. A needle will be inserted into the space between the bones of the back to collect fluid.

If participants are not eligible for current studies, they may be contacted in the future.

Descripción detallada

Objectives

The primary objective is to evaluate patients referred with a diagnosis of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or related adult-onset neurodegenerative disorder to assess patient eligibility for ongoing protocols. The secondary objective is to develop and maintain a registry of characterized patients and presymptopmatic carriers of gene mutations that cause ALS or FTD. An exploratory objective is to obtain biospecimens from clinically characterized patients to carry out laboratory-based studies aimed at understanding the molecular pathways and genetic overlap between these neurodegenerative disorders.

Study population

Adults referred with clinical diagnoses of frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative disorder. Presymptomatic carriers of genes that cause familial FTD or ALS.

Design

Participants will all undergo clinical tests to confirm diagnoses and to stage disease severity, including a standard battery of tests to measure cognitive and motor function. Participants may opt-in for research procedures such as phlebotomy, skin biopsy, and

lumbar puncture to obtain biospecimens for laboratory research, and magnetic resonance imaging or transcranial magnetic stimulation may be used to explore biomarkers of disease.

Outcome measures

Clinical information will be analyzed as part of our research to identify common features and differences among participants.

Estado general Recruiting
Fecha de inicio October 11, 2017
Fecha de Terminación October 30, 2025
Fecha de finalización primaria October 30, 2025
Tipo de estudio Observational
Resultado primario
Medida Periodo de tiempo
eligibility for protocols 10/30/2025
Inscripción 200
Condición
Elegibilidad

Método de muestreo: Non-Probability Sample

Criterios:

- INCLUSION CRITERIA:

Patients will be included if they

- Are age 18 or older

- Have been given a diagnosis by a neurologist of frontotemporal dementia, frontotemporal lobar degeneration, primary progressive aphasia, semantic dementia, motor neuron disorder, amyotrophic lateral sclerosis, progressive bulbar palsy, corticobasal syndrome, Huntington disease or other related adult-onset neurodegenerative disorder OR

- Carry a mutation in a gene that causes familial ALS or FTD

EXCLUSION CRITERIA:

Patients will be excluded if they

- have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities.

- Have an unstable medical condition that, in the opinion of the investigators, makes participation unsafe

- require daytime ventilator support at the time of study entry

- are unable to travel to NIH

- Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging.

Género: All

Edad mínima: 18 Years

Edad máxima: N/A

Voluntarios Saludables: No

Oficial general
Apellido Papel Afiliación
Justin Y Kwan, M.D. Principal Investigator National Institute of Neurological Disorders and Stroke (NINDS)
Contacto general

Apellido: Carol H Hoffman

Teléfono: (301) 451-1229

Email: [email protected]

Ubicación
Instalaciones: Estado: Contacto: Copia de seguridad de contactos: National Institutes of Health Clinical Center For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 TTY8664111010 [email protected]
Ubicacion Paises

United States

Fecha de verificación

July 21, 2020

Fiesta responsable

Tipo: Sponsor

Palabras clave
Tiene acceso ampliado No
Condición Examinar
Grupo de brazo

Etiqueta: Patients

Descripción: patients who are referred with a diagnosis of frontotemporal dementia, motor neuron disorder, or related adult-onset neurodegenerative disorder to assess patient eligibility for ongoing protocols

Información de diseño del estudio

Modelo de observación: Cohort

Perspectiva de tiempo: Prospective

Fuente: ClinicalTrials.gov