Explore the Latest in Research, Trials & Treatment Advancements
Stay informed about the latest developments in research, trials, and treatment advancements in the field of rare inborn errors of protein metabolism. Living with a rare condition presents unique challenges, but ongoing research offers hope through emerging treatment pipelines for various IEMs. For inquiries regarding trials and research, please reach out to our dedicated MDDA Patient Pathways Nurse.
Latest Research Updates
This list below highlights key areas of ongoing research but is not exhaustive. Some of these studies may have published results. For independent and credible information on clinical research, peer-reviewed scientific journals are the most reliable source.
Our Commitment to Keeping You Informed
At MDDA, we are dedicated to staying up to date with the latest advancements in treatments and research for all IEpMs. We regularly update this page to provide you with the most current and accurate information available.
The Importance of Clinical Trials in rare diseases
- Access to new treatments:
For many rare disease patients, clinical trials may be the only way to access investigational therapies that could potentially improve their quality of life. - Advancing medical knowledge:
By participating in trials, patients help researchers better understand the disease’s natural history and mechanisms, leading to more effective treatments and diagnostic methods. - Hope and potential for cure:
Clinical trials offer a glimmer of hope for patients with limited treatment options, allowing them to contribute to the development of potential cures. - Unique design considerations:
Due to the small patient population in rare diseases, clinical trials need specialised designs to effectively collect data and analyse results. - Collaboration with patient organisations:
Partnerships with patient advocacy groups are vital to recruit participants, understand patient needs, and design relevant clinical trials.
Challenges in rare disease clinical trials:
- Recruitment difficulties:
Finding enough eligible patients to participate in a trial can be challenging due to the low prevalence of rare diseases. - Limited understanding of disease:
Researchers may have limited knowledge about the disease’s natural history, making it difficult to design appropriate trial end points. - High costs:
Conducting clinical trials for rare diseases can be costly due to the need for specialised expertise and patient recruitment strategies.