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:
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:
Another gene therapy clinical trial has been performed here:
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.
In case you haven't yet, I suggest all PCDer's review and sign up on the following website
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?