Developing New Ways to Detect Respiratory Impairment Early in ALS
21. september 2026 oppdatert av: 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.
Studieoversikt
Status
Status
Rekruttering
Forhold
Forhold
Studietype
Studietype
Observasjonsmessig
Registrering (Antatt)
Registrering
70
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiekontakt
Studiekontakt
- Navn: Jayakrishnan Nair, PhD, PT
- Telefonnummer: 352-871-5888
- E-post: Jayakrishnan.Nair@jefferson.edu
Studer Kontakt Backup
- Navn: Dana Johnson, DPT
- Telefonnummer: 215-326-9153
- E-post: dana.johnson@jefferson.edu
Studiesteder
-
-
Pennsylvania
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Philadelphia, Pennsylvania, Forente stater, 19107
- Rekruttering
- Thomas Jefferson University - Center City
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Ta kontakt med:
- Jayakrishnan Nair, PhD, PT
- Telefonnummer: 352-871-5888
- E-post: Jayakrishnan.Nair@jefferson.edu
-
Ta kontakt med:
- Dana Johnson, DPT
- Telefonnummer: 215-326-9153
- E-post: Dana.Johnson@jefferson.edu
-
Hovedetterforsker:
- Jayakrishnan Nair, PhD, PT
-
-
Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
18 år og eldre (Voksen, Eldre voksen)
Tar imot friske frivillige
Ja
Kjønn som er kvalifisert for studier
Alle
Prøvetakingsmetode
Ikke-sannsynlighetsprøve
Studiepopulasjon
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.
Beskrivelse
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.
Studieplan
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
- Observasjonsmodeller: COHORT
- Tidsperspektiver: PROSPECTIVE
Antall grupper / kohorter
3
Kohorter og intervensjoner
Gruppe / KohortGruppe / Kohort |
|---|
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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. |
Hva måler studien?
Primære resultatmål
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction
Tidsramme: During the single study visit
|
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
|
Sekundære resultatmål
Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Fractional Anisotropy of the Brainstem and Cervical Spinal Cord
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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.
|
Samarbeidspartnere og etterforskere
Det er her du vil finne personer og organisasjoner som er involvert i denne studien.
Sponsor
Sponsor
Samarbeidspartnere
Samarbeidspartnere
Publikasjoner og nyttige lenker
Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.
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- Dobbins EG, Feldman JL. Brainstem network controlling descending drive to phrenic motoneurons in rat. J Comp Neurol. 1994 Sep 1;347(1):64-86. doi: 10.1002/cne.903470106.
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Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Antatt)
Studiestart
1. september 2026
Primær fullføring (Antatt)
Primær fullføring
31. mars 2028
Studiet fullført (Antatt)
Studiet fullført
31. mars 2028
Datoer for studieregistrering
Først innsendt
Først innsendt
21. september 2026
Først innsendt som oppfylte QC-kriteriene
Først innsendt som oppfylte QC-kriteriene
21. september 2026
Først lagt ut (Faktiske)
Først lagt ut
28. september 2026
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Sist oppdatering lagt ut
28. september 2026
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Siste oppdatering sendt inn som oppfylte QC-kriteriene
21. september 2026
Sist bekreftet
Sist bekreftet
1. september 2026
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
- Magnetisk resonansavbildning
- Biomarkører
- lungefunksjon
- Amyotrofisk lateral sklerose
- Nevroimaging
- Genetisk risiko
- Neurofilament lett kjede
- respiratorisk muskelstyrke
- Tidlig diagnose
- Lou Gehrigs sykdom
- Hjernestamme
- respiratory control
- åndedrettsdrift
- hypoksisk
- Åndedrettsfunksjon
- hyperkapnisk
- Motorneuronsykdom
- Overflateelektromyografi
- Ryggmarg
- Luftveissvikt
- Respiratory biomarkers
- Presymptomatic amyotrophic lateral sclerosis
- Respiratory muscle function
- automatic breathing
- respiratory weakness
Ytterligere relevante MeSH-vilkår
- Sykdommer i sentralnervesystemet
- Sykdommer i nervesystemet
- Patologiske prosesser
- Nevromuskulære sykdommer
- Metabolske sykdommer
- Sykdommer i luftveiene
- Respirasjonsforstyrrelser
- Nevrodegenerative sykdommer
- Tegn og symptomer, luftveier
- Ryggmargssykdommer
- TDP-43 Proteinopatier
- Proteostase mangler
- Patologiske tilstander, tegn og symptomer
- Ernæringsmessige og metabolske sykdommer
- Tegn og symptomer
- Respiratorisk insuffisiens
- Sykdom
- Respirasjonsaspirasjon
- Hypoksi
- Motor Neuron sykdom
- Amyotrofisk lateral sklerose
- Hyperkapni
- Charcot-Marie-Tooth sykdom, type 1f
Andre studie-ID-numre
Andre studie-ID-numre
- 22D.834
- 1R21NS145175-01A1 (U.S. NIH-stipend/kontrakt)
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
JA
IPD-planbeskrivelse
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.
IPD-delingstidsramme
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.
Tilgangskriterier for IPD-deling
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.
IPD-deling Støtteinformasjonstype
- STUDY_PROTOCOL
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Nei
Studerer et amerikansk FDA-regulert enhetsprodukt
Nei
Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .