Gene Therapy

[Karlo]

Hi everyone! I'm new to the forum but not to PCD. I've been diagnosed with PCD as a child, at the age of 13, currently I'm 32 years old now. I've had two bronchoscopies two confirm the diagnosis.

I have been studying (mostly googling) various studies and experiments done in regards to finding a cure for PCD. I have come to some promising leads in the gene therapy department.

The one that excites me the most is:

ncbi.nlm.nih.gov/pubmed/193...

From the article: "Cilia beating was recorded and electron microscopy of the cilia was performed. Transcription and translation of the transduced DNAI1 gene were detected in human cells treated with the lentivirus. In addition, immotile cilia recovered a normal beat and outer dynein arms reappeared. We demonstrated that it is possible to obtain a normalization of ciliary beat frequency of deficient human airway epithelial cells by using a lentivirus to transduce cells with the therapeutic gene"

This is (or was) a clinical trial done in London by Professor O’Callaghan on treating the underlying disorder of PCD in children. If I lived in London or anywhere in the UK, I would definitely get in touch with Professor Chris L O'Callaghan. The link to the study is below:

action.org.uk/our-research/...

Another gene therapy clinical trial has been performed here:

ciliajournal.biomedcentral....

More genetic therapy trials, this one in the USA: nature.com/gt/journal/v21/n...

What I'm getting at, is that if you have PCD and live in the same countries that these trials are being performed, why not contact these brilliant people that are trying to find a cure, and ask them how you can help, can you take part in the trial, are there any updates, etc? I know it sounds like a long shot, but what's the worst that could happen? I'm in south east Europe and plan to get in touch with a few researchers, ask them if they have 5 minutes to spare and pose the above questions.

It's up to us patients and family of patients to push this research along, because of the rarity of this disease and little media coverage. If we don't, no one else will.

P.S.

In case you haven't yet, I suggest all PCDer's review and sign up on the following website

rarediseasesnetwork.org/cms...

P.P.S

I'm scheduled for genethic testing at the end of this month, to see if they can identify the underlying gene. Have any of you had genetic testing done? How did it go?

[Karlo]

The entire study from the first link (ncbi.nlm.nih.gov/pubmed/193... is available here:

journals.plos.org/plosgenet...

I suggest everyone reads it, even if much of it is hard to understand.

[WhiteTara in reply to Karlo]

Thank you for sharing this information. My husband and I have been strangely non-curious about this disease that affects our lives so much, probably because we focus so much on the day to day living with it. Maybe searching for the info seems too time consuming, so thank you for sharing this!

[Karlo]

Hi Tara, thanks for commenting. I read some of your posts and am sorry to hear you and your husband are going through a difficult time.

I have contacted some research clinics and wrote a few emails to some doctors/researchers and they were suprisingly open and kind to give a detailed responce. One of them is Dr. Michael Knowles, who is at University of North Carolina. They are planning new clinical trials for PCD patients and gave me permission to spread the word around. Trials will be performed in centers throughout the US and in some institutes in Europe.

I don't know where you live, but I encourage you and everyone else to send him an email with some basic details about yourself and he will fill you in with the details about the studies. The more people participate in said trials, the better. His email is: [e-mail]

[WhiteTara]

You are a terrific researcher yourself! We actually are in NC and know Dr. Knowles and his associates. Mike does participate in whatever trials they contact him for, and they are very excited to get to study his lungs after he has his transplant! PCD lungs are rare for them to get. We feel extremely blessed to be at UNC with such a terrific team. I think we're on the cusp of some really great research in PCD. Hopefully when things settle down after Mike's transplant, I'd like to get involved in supporting PCD research. And you are so right that the more PCDers that can share their information, the more data the researchers will have to bring better treatments and hopefully a cure!

[TerryBun Administrator]

Thank you.

We are fortunate that the PCD Family Support Group UK are supported by the PCD Medical Advisory Board, which is a group of clinicians with an interest in PCD. We are generally kept in the loop regarding research and studies that are happening around the world.

We are also part of The Ciliopathy Alliance and through them are kept up to date by their medical researchers and clinicians.

[Karlo in reply to TerryBun]

Hi Terry,

I didn't know how well organized you were in the UK and that PCD patients are kept in the loop regarding new treatments and therapies. Unfortunately, I'm pretty much in the dark here (Croatia) since there is no group, organization, clinic etc. that is specialised in working with and treating PCD patients. It's very frustrating for me to talk with my general practitioner about my condition only to realize that she doesn't have a clue what I'm talking about. That's why it was so refreshing to have a proper conversation with Dr Knowles, if only by email.

That's also why I started searching for international clinics, trials and treatments, and thought it would be ok to share the information here. I can't participate in any of the relevant researches due to my geographical location and lack of resources, but I'm glad that at least patients in other countries are getting proper treatment and up to date info on the latest findings regarding PCD.