I guess a better question is…. Do you (or does your child) have a nonsense mutation? If the answer is yes – whether it’s a single nonsense mutation or a pair – the Patient Registry over at Emily’s Entourage (EE) is for you!
Not to be confused with the Cystic Fibrosis Foundation’s Patient Registry, the one over at EE is made specifically for people living with nonsense mutations.
What are nonsense mutations? We commonly know them as class-I mutations (or stop mutations or X mutations), or even more broadly as, “the last 10%” of people with cystic fibrosis.”
A trip to a local genetics class will tell us nonsense mutations, “[are] a class of genetic mutations where a premature stop codon, or signal, is introduced in the DNA sequence necessary for protein creation. Because of this “stop” mutation, protein synthesis ends prematurely and gives rise to a shorter, unfinished, and either non-functional or poorly functional protein.”
The last part of that definition is significant. If you’re a person living with two of these nonsense mutations, your body does not complete CFTR protein synthesis, which then means there is no protein for our CFTR modulators (Orkambi, Symdeko, etc.) to correct and potentiate.
So while you, me, and most of our community have been itching to get our hands on the triple-combo, people with two copies of nonsense mutations are still waiting for their breakthrough. To help expedite that process, Emily’s Entourage has set up their patient registry for people with nonsense mutations.
The EE patient registry is different from CFF’s registry in that it doesn’t track data. It’s more of a way for Emily’s Entourage to get in touch with you should a research opportunity pop up, and since there are so few people living with nonsense mutations within the already small CF population, patients and families need to act on these opportunities as quickly as possible. From EE:
Emily’s Entourage maintains a voluntary registry of individuals with nonsense mutations of Cystic Fibrosis. The purpose of the registry is to collect limited information about individuals with nonsense mutations so that Emily’s Entourage may inform them about relevant research, clinical advances and drug trials…Participation in the registry is voluntary and is not related to any medical care, treatment, research or insurance. There is no cost to be included in the registry and you will not receive any payment for being included. The primary benefit of enrolling in the registry is the opportunity to be informed of relevant clinical advances and drug trials. Any questions regarding the patient registry should be directed to: firstname.lastname@example.org.
You can almost think of it as a science mailing list!
So to recap… In order to enroll in the Emily’s Entourage registry, you must have at least one nonsense mutation (not sure what class your mutation is? You can check on the CFTR2 database!), and if you do enroll, you can look forward to being one of the first to find out about trials and research opportunities. Click HERE to enroll.
The bottom line is that all of us have cystic fibrosis. Whether you’re a double delta, you’re a mild case with gating mutations or you have nonsense mutations, we’re all in this together. We do not have the luxury of saying no to research participation. You, me, and the rest of us have the privilege of being medical pioneers. The only way we’re going to see this through to the very end is if all of us act now. If you have a nonsense mutation, this is you’re chance to get involved.