Press Clippings

More Achromatopsia in the news today. I am in danger of turning this blog into a clipping service!

Local newspaper article about two sisters living with Achromatopsia. This previous article about one of them is better written and is, to my mind, more interesting.

This week, the BBC featured research into retinal ganglion cells: Drug lets blind eyes see light. It does not refer to Achromatopsia but includes a magnificent picture of the retina.

Gene Therapy in The Economist

I always find it exciting when I see an article on gene therapy in The Economist.

Yes, they like to report on new technology early, but they are also not going to risk their reputation on reporting unpromising studies or research.

The article, Gene Therapy: Ingenious, fixing a body's broken genes is becoming possible, published this week, is a general gene therapy article but the first two success cases mentioned are both related to blindness. They don't reference any Achromatopsia gene therapy, but report positive results for choroideremia and Leber’s congenital amaurosis. Additionally, both studies appear to have the same delivery mechanism as would be used for Achromatopsia, although the article is not specific on method used in the first case. (I also like the picture accompanying the article: clever and cute.)

I always feel a surge of optimism when I read these types of articles, I start to believe that there is hope that Charlotte will be a recipient of treatment. I don't know when, or how what difference it might make but I like to know that there are people out there working on this stuff and there is money being found to pay for it. All of my previous hesitation around such a new technology still applies but it is nice to have a little boost once in a while.

Article: retinal imaging

Article from Chicago Lighthouse
Applications of High-Resolution Retinal Imaging in Achromatopsiaby Joseph Carroll, PhD
The Eye Institute, Medical College of Wisconsin

I always read these research reports with such mixed emotions.  On one hand, I would love for there to be a "cure" for Charlotte; on the other, I don't want to get our hopes up.  On the one hand, the researchers seem to be making great progress; on the other, any treatment will take a long time to get to market, with many setbacks.  On the one hand, she could have greatly improved vision one day; on the other, her cone cells are deteriorating/dissapearing as she ages and her time is running out.  On the one hand, there will eventually be a treatment; on the other, it will not be without significant risk.

It's such a rollercoaster.   One day at a time...

UCL Research

University College London have a page covering their genetic research for retinal diseases.  They have updated for Achromatopsia CNGB3 and it looks like they are planning on moving forward with a clinical trial.  I am not certain if this is the same one as Moorfields are doing.

Achromatopsia link here.

CNGB3

...is the gene that is causing Charlotte's Achromatopsia.

This is the most common gene AND the one that they are in the process of planning a clinical trial on at Moorfields.

Good news - it's the right one to have!

Moorfields visit

Our visit to Moorfields today was technically a success. Emotionally, it was difficult, more for Charlotte than I - she really didn't like her blood draw. Poor kid. The numbing cream didn't seem to work, or if it was working, it would have been even worse without.
I got to talk to the Dr who is running this project. What they are doing right now is a genotype and phenotype "catalogue" of patients with Achromatopsia.

The interesting points about the future trials are:


- they expect to start towards the end of this year. Certainly within 12 months.

- the first trial will be of 12 patients but could be extended or rolled into a second trial vey quickly.

- they will be taking patients as young as 3 but the majority will be in their 20s and 30s.

- even 20 and 30 year olds are expected to benefit to some extent.

- having one treatment would not preclude a patient from having further treatments.

- children with Leber's, in a current study, have not had as good results as adults; they suspect this is because children, who have healthier retinas, are not receiving enough of the virus to overcome the diseased genes and be effective

- as I expected, the safety issues would be mostly around the procedure itself. The vitreous fluid would be drained which is incredibly routine, the retina would be encouraged to detach, which is normally not encouraged, but expected to recover within 24 hours. Risk of infection and other surgical risks would apply.

- they expect that Charlotte would be treated as part of a trial rather than as part of a proven treatment.

Next steps:
- visit a Dr in Leicester who has a handheld retinal imaging machine which is effective at getting a good image in children.
- wait 3 months for the results of the test to determine if Charlotte does, in fact, have the gene they are looking to treat.

Moore and Moor

Another call from Moor(fields) today. They want to meet us next week and do a clinical exam and ERG as well as the blood sample. I had a chance to ask about the trials and what stage they are at. I gather that they are trying to collate a pool of possible trial subjects and future patients so that they can go ahead and apply for permission and/or funding for the trial. Clearly, they expect to have some success on this or the genetic counsellors would not be working so hard on it. I have very mixed feelings about gene therapy. On the one hand it seems like one shouldn't mess so much with nature/God. On the other hand, gene therapy really will cure diseases in the future. Scientists have been messing with nature/God for a very long time and this is the logical next step along that path. But why does it have to be my child who is at the forefront of this new wave of scientific discovery/experimentation? Still, I know I am fortunate that my child has the opportunity to participate in new treatments in time to benefit from them.

Genetic testing, part 1

Charlotte has been invited to Moorfields to have genetic testing to determine whether or not she has the mutation that would enable her to be a candidate for a possible clinical trial. I'm delighted about the testing, we were going to have it done privately and this is perfect since they have come to us (and we can have it done at no cost!). The rest throws me into a world of mental turmoil. I would love nothing more than for Charlotte to be "cured". But what about the risks? I would have a really, really hard time saying no to a clinical trial, I believe they will be successful, quickly, and Charlotte is so young that she would be likely to have full vision restored with possibly no memory of ever having less than perfect vision. But what about the risks? Even if trials are successful, every treatment will carry risks just in the administration of the treatment. Can we risk permanent damage to even one eye? What if she is an achromat in one eye and totally sightless in the other? Or with noticeable eye deformities? She is just darling exactly the way she is - this afternoon, she was running around in the garden with her big sister, looking for fairies. I know I am getting way ahead of myself here but these are the thoughts that are going round and round in my head. It is so hard knowing that we have to make these decisions for her - by the time she is old enough to make them for herself, the benefits will have decreased significantly. What would you have had your parents do when you were a tiny child?

More gene therapy trials

Another publication of a successful clinical trial here. This one is only mice and apparently large mammal trials are always a better indication of moving closer to human trials and actual therapy.

I never know whether to get excited about these kinds of reports or not. On the one hand, a treatment will be possible one day and will be a wonderful thing for all those patients and families that it will benefit. But I always read the part about it having success only in young animals and believe that treatment will always come too late to benefit Charlotte. Then I get depressed again. It is sometimes better to have no hope than false hope.

On the other hand, as this kind of therapy becomes more widely used in the future, they may be able to make smaller and smaller gains with less risk. This might mean that even though she wouldn't have normal vision, she might be able to have a slight improvement which would still be worth it.

I really should go and sort out getting genetic testing for her. We've been meaning to for ages and we want to be ready to hit the button should anything really become available.

Gene therapy research

I read an interesting article today about the advancement of gene therapy for different types of retinal diseases. Nothing brand new, but a good summary of the picture to-date:

http://www.discoverymedicine.com/Knut-Stieger/2010/11/16/gene-therapy-for-vision-loss-recent-developments/

Of course, it is the Internet, the largest source of unverifiable information anywhere. But it does give me hope. Hurry, hurry, hurry! Before she gets too old.

IVF?

One of the Achroma-Mummies that I know through Facebook mentioned today that they are considering IVF for the conception of a second baby. The embryos would be tested for the Achromatopsia gene before implantation.

M and I have talked about this before and I have always been adamant that I would not go through the rigours of IVF to avoid the 1 in 4 chance of having another Achromat. Am I in denial about the seriousness of living with this disease? If I was really baby-crazy, I wouldn't hesitate to try for another one. The odds aren't that bad and the condition isn't that bad. Plus, the family are already set up to deal with it: your house is already darkened, the sunglasses already researched, and they would grow up with a built-in playmate/buddy/understanding person around. As for medical treatment: in the UK, it is paid for by the NHS.

But am I looking at from the luxurious perspective of already having two children and not being broody?

Two philosophical questions:

1. Is it irresponsible to knowingly concieve a child who may require more medical resources than another child, knowing that these resources are going to be paid for by the taxpayer?

2. Is it bad of me to be more willing to submit our offspring to a possible life with Achromatopsia than to go through IVF and genetic testing of embryos? Am I trading my own convenience and expense for their future happiness?

I would be really weary of creating a designer baby, one of the biggest reasons is that nobody is perfect and trying to create the perfect child is sure to end in dissapointment.

At the heart of it, I feel like it is kind of disloyal to Charlotte and her peers, kind of like saying to them, "What you have is so terrible that I am going to go through all this time, pain, heartache and expense to avoid it ever happening again."

Genetic counselling

I heard back from the Genetic Counsellor at Moorfields today, the update is that if we were to get genetic testing done privately we would need to go and see one of Prof Cone's colleagues privately and then also pay for the testing. It's kind of what I expected. We had discussed it and decided that we were happy to wait for a suitable time to test her through the NHS, not because we don't want to spend the money but because we don't feel that this is so urgent that we need answers.

Some things to consider:
1. If we decide we want another baby, we probably want the testing because it might not be Achromatopsia. Having another baby is not high on my priority list but you never know how my feelings might change in a few years time. Charlotte is so wonderful that I would have 100 of her and I don't really care about the 1 in 4 odds. But if it was Leber's, or if Charlotte really starts to struggle, I might care more.
2. I will go to the GP Practice Nurse to have Charlotte's Swine Flu vaccine done. Then I will ask her at what age she is comfortable drawing a blood sample for the genetic testing (they only need 4ml). Then I can arrange with Sophie for the equipment to be sent out and the sample analysed. I'm thinking this process could take 2 years, one for Charlotte to be old enough (about 2yrs old?) and another year for the sample to be tested and the results to arrive.
3. If a treatment is developed, testing will become a priority if Charlotte is to participate. Patients would need to be tested before any gene therapy and I'm imagining that the NHS would therefore have everything set up for us to be tested quite quickly.

Then I asked Sophie what her opinion was about Charlotte's ability to benefit from any future treatment, given the time it might take for something to be developed. She was very optimistic and said that once something gets good results in animal trials, it can progress quite quickly through human trials. I said that I imagined Charlotte might be the last of the Achromats and she said no, that would certainly be true for the 10 year old patients that they have but not for babies.

Fingers crossed/hope and pray for fast, accurate, successful trials...