Rare DiseaseGenetic Tumor-Predisposition (RASopathy)

Neurofibromatosis Type 1

The PII-pNF's past-week recall snapshot plus the electric spikes, held doses, and changing lumps of every day in between.

The PII-pNF asks a patient to rate, over the past seven days, how much tumor pain interfered with sleep, attention, and mood. It's a validated instrument, and it anchors NF1 care. But an electric spike that shoots down the arm at lunch is hard to weigh accurately a week later. Forma keeps the PII-pNF and adds the daily, in-the-moment signal that a weekly recall window can't hold.

How it works

15 seconds of speech. 25 data points.

Forma turns each NF1 patient into a continuous, consented data stream that feeds the instruments already in the chart. 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 on the PAINS-pNF and PII-pNF, neurofibroma change, physical function on 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 into the existing clinical assessments and fills the days between them.

Patient speaking

😊
Today

Forecast

Based on prior Topics logging

😴
Fatigue
MTWTFSS
🤗
Mood

Topics

💧
Tumor Pain
🔥
Medication
💊
Red Flags
💧
Function
🔥
Mood
0
data points extracted
Research-Ready Dataset

Structured, coded, longitudinal

Timing
Onset time:Midday (lunch)
Location
Pain location:Right arm / shoulder
Severity
Pain pattern:Episodic spikePain quality:Shooting / electricPain intensity (NRS-11):8 / 10Pain interference (PII-pNF):ConcentrationSide effect:Diarrhea
Actions
Medication:Mirdametinib (Gomekli)Adherence:Held for side effect
Environmental
Barometric pressure:29.88 inHg (falling)

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 PAINS-pNF score 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 PAINS-pNF score 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 13. Physical function improved from moderate limitation to near-normal by Day 21. This runs alongside the PII-pNF in the chart, not instead of it.

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 PAINS-pNF logging showed a mean 2.9-point reduction at 12 weeks (Cohen's d = 0.71, p < 0.001). Because every good and bad day is captured rather than recalled at a single sitting, the between-visit signal carries less recall noise than a spot rating.

PAINS-pNF 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

The raw signal

12 days of raw patient data

The day-by-day voice log behind the insights above, and the detail that periodic check-ins can't capture.

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, with 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. This is the continuous arc, with its tolerability dips and a between-visit red-flag check, that a weekly PII-pNF rating and intermittent clinic visits can't see on their own.

See Neurofibromatosis Type 1 configured for your study

See Forma layered onto the PII-pNF for NF1