Concept-phase prototype. Rare disease therapy feasibility and referral support module. Designed for FDA clearance pathway as Software as a Medical Device; no clearance has been granted. Specialist clinician remains the responsible decision-maker.

SaMD module - Rare disease feasibility and referral support

Advanced Therapy Explorer

Analyzes a patient's variant, phenotype, prior treatments, and missing-data context and recommends specialist referral, possible therapy categories, and a feasibility tier for clinician review.

Module-level intended use defined in the SaMD design file.

What this supports

Recommend specialist referral based on variant, phenotype, and prior-treatment context.
Identify possible therapy categories for specialist consideration.
Predict feasibility tier, suspected mechanism, and confidence band for specialist review.
Generate a referral-ready packet with provenance, evidence precedents, and missing-data checklist.

What this does not do

Confirm a rare disease diagnosis without specialist evaluation.
Select or design an N-of-1 therapy.
Make patient-specific clinical impact claims for advanced therapy.
Operate outside the indications for use defined for this module.

Patient / Case Summary

Name

Alex Morgan

Age

9 years

Condition

Ultra-rare neurodevelopmental disorder

Standard-of-care status

Receiving supportive standard-of-care services with ongoing specialist evaluation.

Phenotype summary

Progressive motor regression, developmental delay, seizures, and abnormal gait.

Disease progression

Symptoms progressed over the last 18 months.

Prior treatments

Anti-seizure medication, Physical therapy, Occupational therapy

Genetic Finding Summary

Gene

EXAMPLE1

Variant

c.1234+5G>A

Zygosity

heterozygous

Inheritance

unknown

Classification

likely pathogenic

Consequence

splice defect

Transcript

NM_000000.0

Variant is predicted to alter RNA splicing and may reduce functional protein expression.

Clinical Phenotype / HPO Terms

Age of onset

Early childhood

Severity

moderate to severe

Progression

Progressive over 18 months

Affected systems

Neurologic, Muscular

HPO ID	Term	Severity
HP:0001250	Seizure	moderate
HP:0001263	Global developmental delay	moderate
HP:0001270	Motor delay	moderate
HP:0001288	Gait disturbance	moderate
HP:0002376	Developmental regression	high

Suspected Disease Mechanism

moderate confidence

splice disruption

The variant is near a splice junction and is predicted to alter transcript processing, which may reduce functional protein expression.

Likely pathogenic classification
Progressive neurologic phenotype
Predicted splice impact

Possible Advanced Therapy Categories

ASO splice modulation

Possible category for specialist review.

Feasibility Summary

Research feasibility

moderate

Clinical readiness

exploratory

Data completeness

partial

Specialist review warranted

yes

Missing Data Checklist

RNA sequencing or transcript analysis

missing

Parental / segregation testing

missing

Functional assay

missing

Natural history data

have

Confirmation of disease mechanism

missing

Target tissue / delivery feasibility

missing

Specialist genetics review

have

Regulatory review

missing

GMP manufacturing feasibility review

not applicable

Evidence / Precedent

RNA splice-modulation precedent

PMID:00000001

moderate evidence

Similar splice-disruption disease examples

ASO splice modulation precedent for specialist review

Research and early precedent review

Rare disease natural history

PMID:00000002

low evidence

Ultra-rare neurodevelopmental disorder registries

No established product for this case

Natural history and phenotype matching

Generated Feasibility Report Preview

Advanced Therapy Feasibility Report Preview

Case summary: Alex Morgan, age 9, Ultra-rare neurodevelopmental disorder. Progressive motor regression, developmental delay, seizures, and abnormal gait.
Variant summary: EXAMPLE1 c.1234+5G>A, likely pathogenic, splice defect.
Suspected mechanism: splice disruption. The variant is near a splice junction and is predicted to alter transcript processing, which may reduce functional protein expression.
Possible categories for specialist review: ASO splice modulation.
Missing data: RNA sequencing or transcript analysis, Parental / segregation testing, Functional assay, Confirmation of disease mechanism, Target tissue / delivery feasibility, Regulatory review.
Specialist review team: Medical geneticist, Treating physician, Rare disease specialist, Molecular biologist / RNA biology expert, Regulatory specialist, GMP manufacturing specialist, Bioethics / IRB reviewer.
Disclaimer: This module is for research organization, documentation, and specialist referral support only. It does not diagnose, prescribe, recommend treatment, create a therapeutic product, or replace clinician judgment.