Currently approved with Kalydeco:
G551D (7.4% of CFs in Australia)

Currently involved with Kalydeco trials:
G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P,  G1349
D (1% Aus)
Conductance: R117H (3.4% Aus)
Residual function: 10-15% Aus. The inclusion criteria for the Denver trial is based on clinical characteristics and mutations. This is the criteria for the Denver study: 1) pancreatic sufficiency or 2) sweat chloride below 80, or 3) age of diagnosis above 12 years and at least 1 copy of a CFTR mutation associated with residual CFTR function or defective mRNA splicing. These are the mutations: R117H, E56K, P67L, D110E, D110H, R117C, R347H, R352Q, A455E, D579G, S945L, L206W, R1070W, F1074L, D1152H, S1235R, D1270N, 2789+5G->A, 3849+10kbC->T, 3272-26A->G, 711+5G->A, 3120G->A, 1811+1.6kbA->G, 711+3A->G, 1898+3A->G, 1898+1G->A, 1717-1G->A, 1717-8G->A, 1342-2A->C, 405+3A->C, 1716G/A 1811+1G->C, 1898+5G->T, 3850-3T->G, IVS14b+5G->A, 1898+1G->T, 4005+2T->C, 621+3A->G and 621+1G->T.
The second trial has similar criteria: normal digestion or sweat chloride 55-85 or milder than expected CF disease in a CF patient with severe gene mutations.

Currently involved in Kalydeco/VX809, Kalydeco/VX661 and N6022 trials:
F508del- homozygotes (2 copies F508del) & heterozygotes (1 copy F508del).
In Aus 85% have F508del and 50% are homozygotes.

Laboratory evidence supports that these mutations may be helped by VX809/Kalydeco:
Class 2: H1054D, G1061R, L1065P, Q1071P, L1077P, H139R, R258G, S945L

Previously involved with Ataluren trials:
Class 1 nonsense mutations that end in X such as: G542X, W1282X, Q493X, R553X, E1104X, R1162X, W846X, W882X, Q1313X (about 5% Aus)

Other rare mutations that are not listed above may be helped by these medications. These mutations are not listed in the Kalydeco trials but are listed in the Kalydeco Patent:  E193K, F1052V, G1069R, 711+1G->T, 2622+1G->A, 405+1G->A, 406-1G->A, 4005+1G->A, 1812-1G->A, 1525-1G->A, 712-1G->T, 1248+1G->A, 1341+1G->A, 3121-1G->A, 4374+1G->T, 3850-1G->A. Hopefully we will find out the results from the residual function trial soon, so we can see if the splicing mutations improved (traditionally many of the splicing mutations listed above have been classified as class 1 splicing, and it was believed that little cftr is produced, which would make it hard for Kalydeco to help).

Trial Info
Residual Function:

Kalydeco Patent:


Join the conversation! 13 Comments

  1. Why do you think Vertex named so many diseases in Patent Claim# 17?

  2. Looking through the diseases several of them may involve a CFTR defect, but many of the conditions do not seem to be related to CFTR. So I’m not sure why there are so many listed.

  3. Do you come across any information regarding g85e?

  4. Hi, have you any information at all on the mutation R560t/k

    • Hi Loretta, Sorry I havent answered, just spent 4 weeks in south america. Will have a look and answer in the next few days

    • Hi Loretta, Sorry I have taken so long to answer. I looked up information about both of those mutations, there is more information about R560T as it is much more common than R560K. I have added the information about R560T here R560K has a similar clinical presentation to R560T according to CFTR2. It is likely that it is class 1, 2 or 3 (previously thought to have a splicing defect, but could also be processing or gating, it is hard to say as there is minimal information). Gen

  5. Is anyone in the trial with mutations df508/1716g/a

  6. Hey Gen, imagine if we created a super fund by having all the CF charities around the world contribute a certain percentage of the funds they raise. Many presently say they don’t have enough money to make a difference in the sense of a cure. It would be focussed on a cure only. It could hire academics, drug developers, investment bankers. venture capitalists. It could invest in all stages from early to late. With proper management it may be credible enough to attract investor funds rather than just donations. That weight of money may well arrive at a cure more quickly than the current disparate arrangements. For example, the money needed to explore viruses isn’t presently available given the cff don’t support GT. Cheers Andrew V

    • Hi Andrew, sounds like a great idea. My parents were told that a cure was less than 10 years away in the early 90s, so CF research definitely needs to be accelerated. Gen

  7. My grandson has df508 and 1898+3A>G. I have found very little on 1898+3A>G mutation. I read where it can be a level 1 or a level 5. Does anyone know this?


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1. Class 1 Nonsense Mutations, 1. Class 2 Mutations & F508del, 1. Class 3 Gating Mutations & G551D, 1. Residual Function Mutations & R117H, 3. N30 - N6022 & N91115, 3. PTC - Ataluren, 3. Vertex - Kalydeco, 3. Vertex - VX809 & VX661