We currently have NO licensed treatments for dyskeratosis congenita/telomere biology disorder. That’s not to say that there aren’t medications already out there that might help. However, without clinical trials, we don’t know how to use these medications in the best way to maximise benefit and minimise side effects.
There are currently NO clinical trials in the UK for dyskeratosis congenita
This is what you can do
- Join DC Action – we are actively working to encourage doctors and scientists to take an interest in our condition
- Consider putting yourself forward for a medical “case report” – a description of your medical case to be published in the medical literature
o Especially if there is a lesson to be learned from your case, e.g. your diagnosis was missed or you have responded well to a non-standard DC treatment
o As DC is rare, there is a risk that people who know you well could recognise your details (although your name and other identifying details would not be published)
o Your specialist may have a keen junior doctor trainee who would like to do this and DC Action can help
- Encourage your specialist to publish a “case series” or audit of their dyskeratosis congenita patients e.g. how many are on danazol? how did they respond? what dose did they need? did they have side effects? Did they have any unexpected good effects e.g. improvement in liver or lungs as well as blood?
- Fill in surveys from charities such as DC Action, Genetic Alliance or other NHS or rare disease charities.
o These are usually anonymous but the information is extremely helpful in lobbying for better NHS services
o Unaffected family members and carers can often also contribute
- Join your local clinic’s registry (many specialists will have a registry, which even if not dyskeratosis congenita-specific, might include several dyskeratosis congenita patients)
- Join an overseas registry (and we hope that soon, we will have our own UK registry, which will have an option to link in with international registries)
Benefits of joining a clinical trial
- You may get a treatment which prevents, cures or slows down the effects of dyskeratosis congenita
- You will get close monitoring from doctors and nurses who are interested and knowledgeable about dyskeratosis congenita
- You will find out a lot about dyskeratosis congenita from the experts
- You will be making a unique contribution of knowledge for the dyskeratosis congenita community, that no-one without dyskeratosis congenita can do
- On average people on clinical trials do better
o Even if they receive placebo (see below) treatment
- Trial information is completely confidential and kept separately from your NHS medical record.
o No-one will be able to identify you individually from the trial results or reports
o Insurance companies are not allowed to ask for your trial medical information
Responsibilities and downsides of joining a clinical trial
- You will have a responsibility to attend appointments, do tests and answer detailed medical questions for the duration of the trial
o These responsibilities will be set out in writing in the “patient information sheet”
- You may have to travel to a specialist centre
o your travel (and usually travel for a companion if you need one) and other expenses will be covered by the trial budget and there will be someone to help you make any necessary arrangements
- You may get placebo (dummy treatment)
o You will probably get first priority to join any follow-on trials to receive the active treatment if it proves effective.
- The treatment may not work for you, or you may have side effects
o You will be closely monitored so that any problems can be resolved quickly
Types of trial
Observational trial
o You don’t receive any experimental treatment
o Allows your doctors to collect information about your current state of health and treatments, to report in the medical literature
o This may be a “registry” – anonymous details of everyone who has dyskeratosis congenita, or everyone who is on a particular treatment or has had a particular procedure e.g. bone marrow or other transplant.
o Registries are often limited to patients attending one clinic, or in one country.
o Registries can include blood, DNA or tissue banks- allowing left-over blood from your routine tests/ new blood samples to be stored, or storage of DNA/RNA, or storage of left over tissue, for example after an operation, for future research.
o You may be asked for permission to allow overseas researchers to access the registry and tissue banks.
This is important, so that the best dyskeratosis congenita experts can pool their worldwide knowledge to progress faster with their research
o You may be asked permission to allow commercial pharmaceutical or biotech companies to access the registry and tissue banks
DC Action recommends you agree to this – we desperately need pharmaceutical and biotech companies to take an interest and develop treatments
Interventional trial
Interventional trials test the benefit of new medications, procedures (such as different types of bone marrow transplant) or other therapies
o “double blind” trials compare the new treatment with a placebo (dummy) treatment.
Neither you nor your doctor will know whether you have had the treatment or placebo until after the trial finishes
o “Open label” trials give everyone the experimental treatment.
You have the benefit of knowing that you have had active treatment
However, it’s much more difficult to be sure that the treatment is responsible for any improvement
o “Cross-over” trials – you will be given experimental treatment for a period of time before changing over to another experimental treatment. One of these treatments may be placebo
o Multiple medication “platform” trials
You will be given several new treatments (or placebo) at the same time
Platform trials work best with “repurposed” medications (already in use for other conditions), where we already have confidence in their safety and know what side effects may occur.
Platform trials allow us to get answers about possible treatments more quickly than would be possible if one medicine was tested at a time.
Platform trials were very successful in the UK during COVID to identify which medications were lifesaving and which were useless (despite big publicity in some cases)
DC Action believes that multiple “repurposed” medications taken together could help slow progress or delay onset of dyskeratosis-congenita-related medical problems.
However, with the possible exception of danazol, there have been no clinical trials to prove this
For information on medications of potential interest click here [would need to click through big disclaimer- could link to blurb re danazol, other androgens, oestrogens, metformin, weight loss drugs, anti-herpes drugs/ Shingrix etc. I still have paragraphs in file]
o Genetic and novel therapies
These therapies are only just being developed and there are none in development yet for dyskeratosis congenita
Gene therapy (replacing a faulty gene) and gene editing (deleting or repairing a faulty gene) have great potential for the future
These therapies are usually permanent
These therapies are usually targeted to a single organ or part of the body e.g. blood or liver (or in future lungs and other areas)
Gene therapies could, in future, be suitable for almost everyone, including those too unwell to undergo a transplant
Further information about clinical trials can be found at: