Treatments and research

Currently, there is no treatment or cure for the vast majority of CDGs. This means that medical interventions are adopted to help manage the varied clinical symptoms associated with disease.

There is still so much to be learnt about CDG and so much more that can be done in terms of diagnosis and possible therapies, but there are only a few researchers and doctors working in this area at the moment. With funding, we wish to change this by collaborating with researchers and health professionals with one end goal: a cure for CDG.

We work with top specialists and other charities to stay informed about the latest developments and promote CDG research. We work closely with our patron, Dr Stephanie Grünewald of Great Ormond Street Hospital (UK), and Dr Donna Krasnewich of the National Institute of Health (USA). We attend international conferences to bring you the most up-to-date research and data.

Birmingham Children’s Hospital is home to the UK’s first rare disease centre where children and young people with rare diseases can access highly coordinated multidisciplinary and multi-specialty rare disease clinics together with peer support and consistent access to research, information and treatment: https://bwc.nhs.uk/rare-diseases

When it comes to research in the world of a rare disease, sample size is everything, and engaging patients and their families is crucial.

A registry is a collection of data giving standardised information about a group of patients. We need to learn about normal variation in CDGs, how they progress over time, whether lab results are stable, and crucially, what we actually need to measure (the best biomarkers). The more information we have about CDGs, the better we can understand their causes and effects. The more we know about their causes and effects, the more we can research into potential therapeutic treatments. Therefore, signing up to a patient registry is a must.

Below is a list of patient registries available for CDG patients to contribute to. You may wonder why we don’t just have one registry for all patients, and that is a valid question! Unfortunately, there is fragmentation of data sources across Europe- there is very little sharing due to data protection and ownership rights. All registries should make it clear to you exactly what will happen to your data, how it will be stored, and who it will be shared with. You will need to give your consent for each registry.