Developing New Ways to Detect Respiratory Impairment Early in ALS
2026년 9월 21일 업데이트: 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.
연구 개요
상태
상태
모병
정황
정황
연구 유형
연구 유형
관찰
등록 (추정된)
등록
70
연락처 및 위치
이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.
연구 연락처
연구 연락처
- 이름: Jayakrishnan Nair, PhD, PT
- 전화번호: 352-871-5888
- 이메일: Jayakrishnan.Nair@jefferson.edu
연구 연락처 백업
- 이름: Dana Johnson, DPT
- 전화번호: 215-326-9153
- 이메일: dana.johnson@jefferson.edu
연구 장소
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Pennsylvania
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Philadelphia, Pennsylvania, 미국, 19107
- 모병
- Thomas Jefferson University - Center City
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연락하다:
- Jayakrishnan Nair, PhD, PT
- 전화번호: 352-871-5888
- 이메일: Jayakrishnan.Nair@jefferson.edu
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연락하다:
- Dana Johnson, DPT
- 전화번호: 215-326-9153
- 이메일: Dana.Johnson@jefferson.edu
-
수석 연구원:
- Jayakrishnan Nair, PhD, PT
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참여기준
연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.
자격 기준
자격 기준
공부할 수 있는 나이
18년 이상 (성인, 고령자)
건강한 자원 봉사자를 받아들입니다
예
연구 대상 성별
모두
샘플링 방법
비확률 샘플
연구 인구
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.
설명
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.
공부 계획
이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.
연구는 어떻게 설계됩니까?
디자인 세부사항
- 관찰 모델: COHORT
- 시간 관점: PROSPECTIVE
그룹/코호트 수
3
코호트 및 개입
그룹/코호트그룹/코호트 |
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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. |
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Healthy Controls
Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments. |
연구는 무엇을 측정합니까?
주요 결과 측정
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction
기간: 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
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2차 결과 측정
2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Fractional Anisotropy of the Brainstem and Cervical Spinal Cord
기간: During the single study visit
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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
기간: During the single study visit
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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
기간: During the single study visit
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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
|
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Mean Diffusivity of the Brainstem and Cervical Spinal Cord
기간: 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
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Plasma Neurofilament Light Chain (Nf-L) Level
기간: During the single study visit
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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
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Serum Neurofilament Light Chain (Nf-L) Level
기간: During the single study visit.
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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.
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공동 작업자 및 조사자
여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.
협력자
협력자
간행물 및 유용한 링크
연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.
일반 간행물
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연구 기록 날짜
이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.
연구 주요 날짜
연구 시작 (추정된)
연구 시작
2026년 9월 1일
기본 완료 (추정된)
기본 완료
2028년 3월 31일
연구 완료 (추정된)
연구 완료
2028년 3월 31일
연구 등록 날짜
최초 제출
최초 제출
2026년 9월 21일
QC 기준을 충족하는 최초 제출
QC 기준을 충족하는 최초 제출
2026년 9월 21일
처음 게시됨 (실제)
처음 게시됨
2026년 9월 28일
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
마지막 업데이트 게시됨
2026년 9월 28일
QC 기준을 충족하는 마지막 업데이트 제출
QC 기준을 충족하는 마지막 업데이트 제출
2026년 9월 21일
마지막으로 확인됨
마지막으로 확인됨
2026년 9월 1일
추가 정보
이 연구와 관련된 용어
키워드
추가 관련 MeSH 약관
기타 연구 ID 번호
기타 연구 ID 번호
- 22D.834
- 1R21NS145175-01A1 (미국 NIH 보조금/계약)
개별 참가자 데이터(IPD) 계획
개별 참가자 데이터(IPD)를 공유할 계획입니까?
예
IPD 계획 설명
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 공유 기간
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.
IPD 공유 액세스 기준
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 공유 지원 정보 유형
- 연구_프로토콜
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
아니
미국 FDA 규제 기기 제품 연구
아니
이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .