Rare DiseaseGenetic Tumor-Predisposition (RASopathy)

Neurofibromatosis Type 1

NF1 pain is chronic, episodic, and gone by the next appointment.

Neurofibromatosis type 1 produces pain that spikes without warning and a tumor burden that shifts between scans — yet it's measured by recall at visits months apart. That's why two MEK-inhibitor trials struggled to prove the pain benefit patients actually felt. Forma captures the daily, in-the-moment signal that recall loses.

How it works

15 seconds of speech. 25 data points.

Forma turns each NF1 patient into a continuous, consented data stream. Patients and parents log in their own words by voice or text, in under a minute, the moment something happens — and Forma structures it into validated fields. It captures tumor pain intensity and interference (NRS-11, PAINS-pNF, PII-pNF), neurofibroma change, physical function (PROMIS-PF), fatigue, mood, vision for optic-pathway-glioma surveillance, MEK-inhibitor adherence and tolerability, and MPNST red flags. The result is a patient-owned longitudinal dataset that plugs directly into existing clinical assessments rather than replacing them.

Patient speaking

😊
Today

Forecast

Based on prior Topics logging

😴
Fatigue
MTWTFSS
🤗
Mood

Topics

💧
Seizure Event
🔥
Medication
💊
Post-ictal
💧
Sleep Quality
🔥
Triggers
0
data points extracted
Research-Ready Dataset

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

Forma Insights

When do my pain spikes actually happen?

Over the last 3 weeks, 7 of your 9 logged spikes hit between 11am and 3pm, and 6 of them shot down your right arm. Midday and your work block are your highest-risk window.

Spikes by time of day

Is my pain really getting better on Gomekli?

Your average daily NRS-11 dropped from 6.2 in week 1 to 3.1 in week 3 — about a 50% reduction — and your pain-free days went from 1 to 4 per week.

Avg daily pain by week

What's wrecking my sleep the most?

On 6 of 8 nights you logged poor sleep, pain interference was the listed cause. Spikes above a 7 were followed by disrupted sleep 80% of the time.

Pain interference: sleep

Can you summarize my last few weeks for my doctor?

Across 3 weeks Marcus logged a drop in average NRS-11 from 6.2 to 3.1 with pain-free days rising from 1 to 4 per week, two MEK-tolerability events (an acneiform rash flare and one held dose for diarrhea, Days 4-5), and one self-resolving tingling episode reviewed urgently on Day 17. Physical function improved from moderate limitation to near-normal by Day 21.

For Researchers

app.formahealth.io/research/insights
Research AssistantNeurofibromatosis Type 1 Monitoring Cohort

Does real-world pain benefit on mirdametinib hold up between visits?

In a cohort of N=142 adults on mirdametinib, continuous NRS-11 logging showed a mean 2.9-point reduction at 12 weeks (Cohen's d = 0.71, p < 0.001) — a between-visit effect size larger than what single-visit recall detected in pivotal trials.

NRS-11 by week

Trend

How does tolerability drive real-world persistence?

Across N=210 MEK-inhibitor patients, 31% logged at least one held dose for tolerability in the first 8 weeks; acneiform rash severity correlated with dose holds (r = 0.46, p < 0.01) and predicted discontinuation by week 24 (OR 2.3).

Dose holds by week

Trend

Can patient-logged red flags surface MPNST concern earlier?

Among N=88 patients, the new/worsening-weakness plus rapidly-growing-mass pattern preceded clinical escalation by a median of 11 days, with sensitivity 0.82 and specificity 0.74 for events flagged by the care team.

Lead-time distribution

Trend

Is the daily PRO layer more sensitive than clinic recall?

In a paired N=96 sub-cohort, continuous logging detected a pain-interference change (PII-pNF) that recall-based visit assessment missed in 38% of cases (AUC 0.79 for predicting next-visit clinician concern).

Daily vs recall sensitivity

Trend

Mon, May 5Day 1

Baseline week. Moderate background ache in the shoulder and noticeable fatigue carried over from poor sleep.

Pain 2Fatigue 2
Tue, May 6Day 2

A severe electric spike shot down the arm at midday; it disrupted sleep and concentration at work.

Pain 3
Thu, May 8Day 4
💊Mirdametinib rash flare

The MEK-inhibitor acneiform rash flared across the cheeks and chest after the week's doses.

MEK Side Effects 2
Fri, May 9Day 5
Evening dose held for tolerability

Bad diarrhea led Marcus to skip the evening mirdametinib dose — the first held dose this cycle.

MEK Side Effects 2
Mon, May 12Day 8

Pain settling toward baseline and physical function noticeably easier than the prior week.

Pain 2Function 1
Wed, May 14Day 10

A genuinely good day — mood lifted and the background ache was minimal.

Pain 1Mood 0
Fri, May 16Day 12
New tingling — contacted care team

An electric spike returned alongside new tingling creeping down the forearm; Marcus messaged the NF clinic.

Pain 2
Sat, May 17Day 13
Urgent review — reassured, monitoring

Urgent review reassured him the tingling was not a red flag; plan is to keep monitoring.

Mon, May 19Day 15

Pain interference clearly lower than baseline — sleeping through and focusing at work again.

Pain 1
Thu, May 22Day 18

Rash settling on the steady dose; function back to near-normal for daily activities.

MEK Side Effects 1Function 1
Sun, May 25Day 21
Sustained low-pain week

Best week since starting treatment — minimal pain, full function, and a steady, positive mood.

Pain 1Function 0Mood 0
Wed, May 28Day 24

Steady state — only a low background ache, no spikes logged for several days.

Pain 1

Key insight

Over three weeks, Marcus's pain fell from a severe spike (score 3 on Day 2) to a steady low baseline (score 1 by Day 15 onward), while physical function recovered from limited to near-normal by Day 21. The Day 8 plateau followed a MEK rash flare and a held dose (Days 4-5), and a Day 12 tingling scare was resolved by an urgent review on Day 13 — the kind of continuous arc, with its tolerability dips and a between-visit red-flag check, that intermittent clinic visits cannot see.

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