GA4GH Connect 2026 Workshop Resources
This page brings together the ALS TDI resources for the April 16 workshop at GA4GH Connect in Montreal and materials related to accessing ALS TDI data.
Accessing ALS TDI data through ARC Data Commons
Academic and nonprofit researchers can access ARC Data Commons resources at no cost with a Data Use Agreement.
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How to cite ARC data
ALS Therapy Development Institute (ALS TDI). (2023). ALS Research Collaborative (ARC) [Data set]. Amyotrophic Lateral Sclerosis Therapy Development Institute. https://doi.org/10.71944/C3NA-9124
Preprint
For additional background on the ALS TDI ARC Natural History Study ARC data resource, see our preprint:
Search the ALS TDI data dictionary
Use the search box below to filter variables in the uploaded data dictionary. Note that this contains select surveys only: please see preprint above for a comprehensive overview of the ARC data.
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Prototype patient narrative
Below is a prototype synthetic participant narrative.
Participant Summary
Participant ID: 123
Snapshot Date: 2026-04-08
Cohort: ALS Natural History
Demographics: 72-year-old male, New York, USA
Participant voice
“My hands weakened first, but my speech hasn’t changed much.”
“I’ve slowed down a lot over the years, especially with physical work.”
“Breathing feels okay most days, but I get tired faster.”
1. Clinical Identity
Primary Diagnosis: Amyotrophic Lateral Sclerosis (Definitive)
- Onset: Age 57, right hand
- Disease course: Slowly progressive
Genetic findings - GENE1 - GENE2 - ETC - Clinical significance not established
Study context - ALSTDI0103 — Imaging & Biofluid Biomarkers - Qualified participant
2. Phenotypic Profile
Motor system
- Progressive limb weakness (HPO: HP:0001324)
- Declining functional mobility, with ALSFRS and accelerometry showing concordant decline
- Muscle cramping (HP:0003394)
Bulbar function
- Clinically reported dysarthria and dysphagia (HP:0001260, HP:0002015)
- Instrumented voice metrics remain stable, suggesting a discordant signal
Respiratory
- Chronic respiratory insufficiency (HP:0002093)
- Stable functional respiratory scores
Neurobehavioral
- Pseudobulbar affect (HP:0000746)
Other
- Sialorrhea (HP:0002307)
- Peripheral neuropathy (HP:0009830)
3. Longitudinal Disease Trajectory
Functional decline (ALSFRS-R)
- 132 observations from 2015 to 2026
- Total score declined from 25 to approximately 14
- Estimated slope: -0.06 per month, consistent with slow progression
Subdomains - Motor: steady decline - Bulbar: stable - Respiratory: stable
Passive activity (accelerometry)
- 124 observations
- Activity level declined from approximately 615 to approximately 236 units
- Pattern consistent with bilateral upper limb decline
Voice biomarkers
- 89 observations
- Mean stability around 0.85, with a wide range
- Interpretation: relative preservation of bulbar motor control
4. Multimodal Concordance Summary
| Domain | Signal Source | Interpretation |
|---|---|---|
| Motor | ALSFRS ↓ + activity ↓ | Progressive decline |
| Bulbar | Voice stable vs. EHR symptoms | Partial discordance |
| Respiratory | ALSFRS stable + EHR positive | Early or stable impairment |
| Behavior | EHR (PBA) only | Underreported in survey |
5. Participant-Reported Context
Lifestyle / exposure
- Former light smoker, approximately 30 years
- Farm or ranch environment
- Construction / foreman occupation
Medical history
- Prior head injuries with loss of consciousness
- Falls
- Allergies
Family history
- Cancer, including bone and kidney cancer
6. EHR Validation Layer
Diagnosis concordance
- ALS confirmed (ICD-10: G12.21)
- Supporting conditions include:
- dysarthria
- dysphagia
- respiratory insufficiency
- pseudobulbar affect
- sialorrhea
- cramping
Medication alignment
| Therapeutic Area | Survey Report | EHR Record | Concordance |
|---|---|---|---|
| ALS | Riluzole | Riluzole | ✔ |
| Motor | Gabapentin, Tizanidine | Same | ✔ |
| Bulbar/PBA | Nuedexta | DM/Q | ✔ |
| Other | Lansoprazole, Tamsulosin | Same | ✔ |
| Supplements | Vitamins D/C/E | Partial | ~ |
Additional EHR-only medications are present for supportive and symptomatic care.
Healthcare utilization
- MRI brain
- Chest X-ray
- CT abdomen
- Echocardiogram
- Sleep study
- Vascular ultrasound
7. Laboratory Snapshot
Recent labs (Feb 2026)
- Hemoglobin: 13.9
- Hematocrit: 40.5
- WBC: 7.8
- Sodium: 135
- Glucose: 72
No major laboratory abnormalities appear to be driving the phenotype.
8. Integrated Interpretation
This participant demonstrates a slowly progressive ALS phenotype characterized by:
- consistent motor decline across functional and passive measures
- preserved bulbar function in digital voice metrics
- stable respiratory function with early EHR evidence of impairment
EHR data strongly corroborates diagnosis, symptom spectrum, and treatment patterns.
Key insight:
There is a cross-modal discordance between:
- stable voice biomarkers
- clinically coded bulbar symptoms
This may suggest early or subclinical bulbar involvement, or differences in measurement sensitivity.
9. Data Completeness / Provenance
| Modality | Coverage |
|---|---|
| ALSFRS-R | 132 |
| Accelerometry | 124 |
| Voice | 89 |
| Surveys | Extensive |
| EHR | Longitudinal (ICD, RxNorm, LOINC, CPT) |
10. Abstract
Disease: ALS (G12.21)
Onset: 57 years
Course: Slow progression
Core phenotypes - progressive limb weakness - dysarthria - dysphagia - respiratory insufficiency - pseudobulbar affect - muscle cramps - sialorrhea
Modifiers - preserved bulbar function by instrumented assessment - reduced activity on accelerometry
Evidence layers - participant-reported outcomes - digital biomarkers (ALSFRS, accelerometry, voice) - EHR diagnoses, medications, and procedures
11. One-Line Summary
Slow-progressing limb-onset ALS with multimodal-confirmed motor decline, preserved voice metrics, and strong EHR concordance, with mild cross-modal bulbar discordance.