Pompe Disease
Your patients' respiratory trajectory between FVC measurements, finally visible.
Pompe disease erodes respiratory and motor function in a slow, relentless progression that quarterly clinic visits can only sample. A single FVC reading reveals nothing about the three months of morning headaches, worsening orthopnea, and increasing BiPAP dependence that preceded it. Forma captures this daily reality — respiratory symptoms, walking ability, infusion reactions, pain, and fatigue — in structured data streams that make the invisible progression visible.
Forecast
Based on prior Topics logging
Topics
How it works
15 seconds of speech. 25 data points.
Forma turns each patient into a continuous data stream. A voice note or text message — under a minute — captures respiratory symptoms, walking ability, stair climbing, chair rise difficulty, ERT infusion reactions, pain severity and location, fatigue patterns, and NIV usage. Each entry is structured into typed clinical fields aligned with GSGC functional domains and standard Pompe biomarkers, producing between-visit trajectory data that integrates directly with existing clinic assessments.
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Forecast
Based on prior Topics logging
Topics
Structured, coded, longitudinal
- Timing
- Seizure time:6:00 AMSeizure duration:45 secRecovery time:20 minMissed dose time:Previous evening
- Location
- Injury location:Tongue
- Severity
- Injury:Tongue bitePost-ictal symptom:Confusion
- Actions
- Adherence:Missed doseMedication:Keppra
- Environmental
- Barometric pressure:29.82 inHg (falling)Moon phase:Waxing gibbous (87%)
From data to insights
What the data reveals
Daily voice logs compound into actionable insights — for patients managing their condition and for researchers running studies.
For Patients
Is my breathing getting worse?
Your breathing difficulty averaged 4.2/10 over the past 3 weeks, compared to 3.1/10 the month before. You logged morning headaches on 8 of the last 21 days, up from 3 the previous month. Your BiPAP usage increased — you needed daytime sessions on 4 days this month versus 1 last month.
Breathing difficulty trend
How am I doing after the ERT switch?
Your infusion reactions improved significantly — severity dropped from 4/10 on your first Pombiliti infusion to 1/10 on the second. Post-infusion fatigue also improved from 8/10 to 5/10. Your walking ability scores have been stable at 4-5/10 since the switch.
Infusion reaction severity
What makes my pain worse?
Your lower back pain averaged 5.3/10 on days following physical therapy or exercise, compared to 3.8/10 on rest days. Pain was highest (6-7/10) on days when you also reported fatigue above 6/10, suggesting a shared exertion pattern.
Pain vs. activity level
Can you summarize my last few weeks for my doctor?
Over the past 3 weeks, David's respiratory symptoms fluctuated between 3-6/10 with morning headaches on 8 of 21 days. BiPAP pressure was adjusted on Day 12 after two nights of gasping awakenings, with improvement in the following week. His ERT switch to Pombiliti + Opfolda is going well — infusion reactions decreased from moderate (4/10) to mild (1/10) by the second infusion, and post-infusion fatigue dropped from 8/10 to 5/10. Walking ability has been stable at 4-5/10. He developed a respiratory infection on Day 24 with impaired cough clearance — this requires close monitoring given his FVC trend.
For Researchers
Do patient-reported morning headaches predict FVC decline?
In our LOPD cohort (N=127), patients reporting ≥4 morning headaches per week had a mean FVC decline of 3.8% over 6 months vs. 1.2% in those reporting ≤1 (p=0.003, Cohen's d=0.72). Morning headache frequency showed a sensitivity of 0.81 and specificity of 0.68 for predicting ≥5% FVC decline at 6 months.
FVC decline by headache frequency
Trend
How do infusion reactions compare across ERT products?
Among 312 LOPD patients tracked across ERT products, infusion-associated reaction rates were 28% for alglucosidase alfa, 19% for avalglucosidase alfa, and 31% for cipaglucosidase alfa + miglustat (first 3 months). By month 6, reaction rates converged to 12-15% across all three products. Patients switching ERTs had 2.1x higher IAR odds in the first infusion (OR=2.1, 95% CI 1.4-3.2).
IAR rate by months on therapy
Trend
Does daily mobility tracking correlate with 6MWD changes?
Patient-reported walking ability scores (0-10) showed a Pearson correlation of r=0.74 with clinic-based 6MWD (N=89 patients, 267 paired assessments). A sustained ≥2-point drop in weekly average walking score predicted ≥30m 6MWD decline at next clinic visit with an AUC of 0.82 (sensitivity 0.76, specificity 0.79).
Walking score vs. 6MWD correlation
Trend
What is the relationship between ERT adherence gaps and respiratory outcomes?
Patients logging ≥2 missed or delayed ERT infusions in a 3-month period (N=41) showed a 2.8% greater FVC decline compared to adherent patients (N=186, p=0.008). The effect was more pronounced in patients with baseline FVC <60% (4.1% additional decline, OR=3.2, 95% CI 1.8-5.7). Unplanned ERT delays were associated with 1.9x increased odds of respiratory-related ER visits within 30 days.
FVC decline by ERT adherence
Trend
David reports moderate breathing difficulty (5/10) and generalized fatigue after a weekend with minimal activity. Walking ability is about 4/10 — needs the walker for anything beyond the living room.
Infusion day — first Pombiliti after switching from Lumizyme. Chills and mild hives during infusion (severity 4/10). Took about 5 hours with rate reduction.
Post-infusion fatigue is bad — severity 8/10, spent most of the day in bed. Back pain about a 5. Breathing actually okay today.
Better day. Fatigue down to about a 4. Walked to the mailbox with the walker — first time this week. Morning headache, but no overnight gasping.
Good start to the week. Walking ability 5/10. Did 20 minutes of gentle stretching. No morning headache for the second day in a row.
Terrible night — woke gasping twice, mask leaked. Morning headache came back. Breathing difficulty 6/10 through the day. Had to use BiPAP in the afternoon.
Respiratory specialist adjusted BiPAP pressure settings after hearing about the bad nights. Breathing somewhat better today (4/10). Hip pain is a 5 after yesterday's PT session.
Sleep improving since BiPAP adjustment — slept 7 hours, one wakeup. No morning headache. Walking ability 5/10 — did the grocery store with the walker.
Second Pombiliti infusion. No chills this time — just mild nausea. Much smoother than the first. Took Opfolda before as prescribed.
Post-infusion fatigue again but milder than last time — about a 5 instead of 8. Able to move around the house.
Good weekend. Walked around the block for the first time in weeks — slowly, with the walker, but did it. Breathing steady at 3/10. Wife says I seem stronger.
Caught a cold from grandkids. Coughing but can't clear anything — cough is too weak. Breathing worsened to 6/10. Worried about pneumonia.
Key insight
Over 24 days, David's ERT switch from Lumizyme to Pombiliti + Opfolda shows a visible trajectory: initial infusion reactions (Day 3, severity 4/10) resolved by the second infusion (Day 17, severity 1/10), while respiratory symptoms fluctuated between 3-6/10 with a notable setback on Day 10 that prompted a BiPAP adjustment. The respiratory infection on Day 24 highlights exactly the kind of between-visit event — impaired cough clearance during a common cold — that a quarterly clinic assessment would miss entirely.
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