Cystic fibrosis OMIM 219700

In Cystic fibrosis OMIM 219700 (CFTR, OMIM 219700), the master switch sits on the ↓ DOWN branch ([F] forced below); the healthy state is the ON well. The forced corrective direction is to raise s toward ON branch (polarity: supply). Classification: ✓ Recovers an existing standard. Direction only — no dose, no efficacy magnitude.

The disease maps to an R19 double-well whose corrective lever is read straight off the cusp (barrier 0.4600, γ 1.3564, spinodal 0.6080). The corrective direction is forced [F]; the agent names below are direction-concordant labels at grade [O] (no dose, no efficacy or safety magnitude). This is a research hypothesis offered to experts, not medical advice.

The emergence switch

The switch for Cystic fibrosis OMIM 219700 is an R19 double-well emerged from the real proximal-promoter DNA of CFTR. Its geometry is fixed by measured stiffness γ (never fitted); the numbers below are read directly off that cusp.

emergent axis
↓ DOWN [F]
healthy branch
ON
lesion
LOF_missense_residual
γ (stiffness)
1.3564
barrier
0.4600
spinodal
0.6080
s_on / s_off
1.1646 / -1.1646
fragility
0.65
corrective polarity
supply
forced direction
raise s toward ON branch

Chemistry feasibility (DIRECTION only [O]). small-molecule recrossing of the fold is geometrically plausible (barrier 0.46 at neutral drive; lower barrier = smaller drive to supply). [O] -- no affinity/potency/dose/efficacy asserted.

The derived corrective lever

The cusp forces a corrective direction: raise s toward ON branch. This is the load-bearing output of the framework — it is [F] forced, and it is falsifiable. 2 lever families are derived; the lead is h-restore (drive modulator).

h-restore (drive modulator)sign: increasegeometric rank 0.65
Mechanism. supply / restore the positive drive (replace-or-agonise the missing competence)
Applies to. allele-agnostic (downstream/environmental tilt)
favoured when the switch is fragile -- a small drive shift recrosses the fold
Falsifier. If supplying/agonising CFTR (raising the switch drive) does NOT move the DOWN [F] switch toward the healthy branch in a CFTR-deficient model, the h-restore(supply) lever is refuted for this axis.
gamma-restore (stabiliser / pharmacological chaperone)sign: stabilisegeometric rank 0.35
Mechanism. stiffen the switch: stabilise the residual product so the healthy well re-deepens
Applies to. MISSENSE / residual-function alleles only
re-enlarges spinodal/barrier; needs a partially-functional allele
Falsifier. If a folding-stabiliser/chaperone does NOT re-deepen the healthy well for a residual CFTR allele (no rescue that a null allele lacks), the gamma-restore lever is refuted; null alleles are excluded by construction.

Agents mapped onto the lever

✓ Agreement with established practice. The corrective direction derived here (raise s toward ON branch) independently matches an agent already in clinical use for this disease: CFTR potentiator (ivacaftor); CFTR corrector(s) +- potentiator (elexacaftor/tezacaftor/ivacaftor). The geometry recovered known medicine — this is a validation signal for the logic, not a new treatment claim by this kit.
Existing agents whose known action is direction-concordant with the derived lever (status as pinned in the corpus; no dose, no efficacy magnitude).
agent (class)dir.statusphasemap
CFTR potentiator (ivacaftor)
Ramsey 2011 NEJM 365:1663 (ivacaftor, G551D)
increaseapproved4✓ in use
CFTR corrector(s) +- potentiator (elexacaftor/tezacaftor/ivacaftor)
Middleton 2019 NEJM 381:1809 (triple combination, F508del)
stabiliseapproved4✓ in use
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.

Direction-only candidate leads (corpus join)

Each lead is surfaced only because its known mechanism points the same way as the derived lever, and each comes with a source and a falsifier. None is a treatment.

ivacaftor✓ recovered standarddir: increase · approved
Class. CFTR potentiator (raises open-channel probability of surface CFTR)
Mechanism. Potentiates CFTR by increasing the open probability of channels already trafficked to the apical membrane, restoring anion conductance for gating-class and residual-function alleles. Direction: increase / supply the deficient channel-function drive. Allele scope: residual / gating only -- it needs CFTR protein at the surface, so a no-protein null genotype requires a corrector first. Gene-specific to CFTR.
✓ This is a rediscovery. Ivacaftor (CFTR potentiator) is approved for cystic fibrosis with gating / residual-function mutations; recovered by the direction logic.
Safety (qualitative; no magnitude). post-marketing safety profile on record (approved for cystic fibrosis with gating / residual-function CFTR mutations; qualitative; no magnitude)
Falsifier. If ivacaftor (a gene-specific supply/increase agent) does NOT move the DOWN [F] switch toward the healthy branch in a CFTR-deficient model, the h-restore(supply) direction is refuted for ivacaftor here.
Source: FDA/EMA label: ivacaftor (Kalydeco), cystic fibrosis (gating / residual-function CFTR)
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.
tezacaftor (with ivacaftor)✓ recovered standarddir: stabilise · approved
Class. CFTR corrector (improves folding / processing / membrane stability of CFTR)
Mechanism. A CFTR corrector that improves the folding, processing and membrane stability of misfolded CFTR (notably F508del), increasing the amount of mature channel that reaches the surface where a potentiator can then act. Direction: stabilise / re-deepen the residual CFTR fold. Allele scope: residual / misfolded-missense only -- there must be a CFTR product to fold. Gene-specific to CFTR. Next-generation correctors (e.g. elexacaftor, in triple combination) are concordant stabilise instances.
✓ This is a rediscovery. Tezacaftor/ivacaftor (CFTR corrector + potentiator) is approved for cystic fibrosis (F508del and residual-function); recovered by the direction logic.
Safety (qualitative; no magnitude). post-marketing safety profile on record (approved for cystic fibrosis; F508del and residual-function mutations; qualitative; no magnitude)
Falsifier. If tezacaftor (with ivacaftor) (a gene-specific stabilise agent) does NOT re-deepen the healthy well / restore thermostability for a RESIDUAL CFTR missense allele in a cystic_fibrosis model -- i.e. produces no rescue beyond what a null allele shows -- the gamma-restore(stabilise) direction is refuted for tezacaftor (with ivacaftor) here. Null / large-deletion alleles are excluded by construction.
Source: FDA/EMA label: tezacaftor/ivacaftor (Symdeko / Symkevi), cystic fibrosis
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.
sodium phenylbutyrate (4-PBA)○ novel leaddir: stabilise · approved
Class. broad-spectrum chemical chaperone / proteostasis modulator
Mechanism. Lowers endoplasmic-reticulum stress, induces folding chaperones, and rescues secretion/thermostability of diverse misfolded MISSENSE proteins (documented for CFTR-F508del, myocilin, type-III collagen, protein C, aquaporin-2, among others). Direction: stabilise / re-deepen the fold. Allele scope: residual / missense only — cannot rescue an absent (null) product, and rescue depends on the specific allele. LOW fold-specificity: a broad modulator, not a target-specific stabiliser.
Prior-art. Broad chemical chaperone; no approved indication for this specific rare disease, so the direction match is a speculative, untested hypothesis. (These agents' actual approvals -- urea-cycle disorders for 4-PBA; cholestatic liver disease and gallstone dissolution for UDCA -- are not among the diseases they surface against here, so no broad pair qualifies as a rediscovery.)
Safety (qualitative; no magnitude). post-marketing safety profile on record (approved for urea-cycle disorders; qualitative; no magnitude)
Falsifier. If sodium phenylbutyrate (4-PBA) (a broad stabilise agent) does NOT re-deepen the healthy well / restore thermostability for a RESIDUAL CFTR missense allele in a cystic_fibrosis model -- i.e. produces no rescue beyond what a null allele shows -- the gamma-restore(stabilise) direction is refuted for sodium phenylbutyrate (4-PBA) here. Null / large-deletion alleles are excluded by construction.
Source: FDA labels: sodium phenylbutyrate (urea-cycle disorders); ursodeoxycholic acid (primary biliary cholangitis / gallstone dissolution)
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.
ursodeoxycholic acid (UDCA; taurine conjugate TUDCA)○ novel leaddir: stabilise · approved
Class. bile-acid chemical chaperone / ER-stress reducer
Mechanism. Bile-acid chemical chaperone that reduces endoplasmic-reticulum stress and assists folding of misfolded proteins; the taurine conjugate (TUDCA) is the more-studied chaperone form. Direction: stabilise the fold. Allele scope: residual / missense only. LOW fold-specificity.
Prior-art. Broad chemical chaperone; no approved indication for this specific rare disease, so the direction match is a speculative, untested hypothesis. (These agents' actual approvals -- urea-cycle disorders for 4-PBA; cholestatic liver disease and gallstone dissolution for UDCA -- are not among the diseases they surface against here, so no broad pair qualifies as a rediscovery.)
Safety (qualitative; no magnitude). post-marketing safety profile on record (approved for primary biliary cholangitis and gallstone dissolution; qualitative; no magnitude)
Falsifier. If ursodeoxycholic acid (UDCA; taurine conjugate TUDCA) (a broad stabilise agent) does NOT re-deepen the healthy well / restore thermostability for a RESIDUAL CFTR missense allele in a cystic_fibrosis model -- i.e. produces no rescue beyond what a null allele shows -- the gamma-restore(stabilise) direction is refuted for ursodeoxycholic acid (UDCA; taurine conjugate TUDCA) here. Null / large-deletion alleles are excluded by construction.
Source: FDA labels: sodium phenylbutyrate (urea-cycle disorders); ursodeoxycholic acid (primary biliary cholangitis / gallstone dissolution)
⚠ Mechanism-direction only — do not self-administer; no dose (unvalidated; set by a physician / national authority); not an approved use.

Evidence & provenance

What is reproduced vs. cited for this page.
elementgradebasis
R19 switch & cusp geometry (this page)[V] verifiedemerged from measured promoter γ of CFTR; deterministic, 2×sha256 identical
corrective direction[F] forcedforced by the cusp sign; falsifiable (see lever falsifiers)
mapped agents / leads[O] opendirection-concordance only; corpus-pinned (2026-06-21); no dose, no efficacy/safety magnitude

Reading the agent column. VALIDATION SIGNAL -- the agent is already approved / established standard for this disease, so the direction logic recovered known clinical practice. Not a new claim by this kit. GENUINE HYPOTHESIS -- no approved indication for this disease; the direction match is a direction-only, untested [O] lead. Basis field grades the evidence (investigational here / in a related condition / off-label / speculative).