Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
- Other Names:
Stimmler syndromeStimmler syndrome
Rare disease research is needed to advance medical knowledge. Research can clarify the common symptoms of a disease and the course of the disease. It can also lead to a quicker diagnosis or improved treatment and medical care. It may even contribute to discoveries related to more common diseases.
Clinical studies include all research that involves people either through direct interaction or through the collection and analysis of blood, tissues, or other samples. Clinical trials are clinical studies involving participants who are assigned to an intervention, procedure, or potential treatment. They evaluate the effect of the intervention on the participant. It is important to review all aspects of the clinical study when making a decision about whether to participate.
Clinical studies can benefit participants, the medical field, and the rare disease community in multiple ways.
A person may decide to participate in clinical studies because clinical studies often provide:
Understanding as much as possible about participating in clinical studies is key to making an informed decision.
Before joining a clinical study, it is important to understand that:
Provides information about clinical trials, participating in clinical trials, and finding clinical trials. Extra sections include personal stories by clinical trial participants and enrolling children in clinical trials.
Offers information about specific topics related to participating in clinical trials, including the difference between clinical research and medical treatment, different types of clinical trials, and informed consent.
We strongly recommend talking to a trusted doctor before choosing to participate in any clinical study. Not all diseases will have an active clinical study.
Get in touch with us for help.
GARD provides general information about rare diseases and clinical studies. We are unable to make a diagnosis or to give personal medical advice.
Staying informed about research efforts can help patients and families make better medical decisions. Learning about different ways to become involved in research provides options for patients and families to join efforts outside of clinical studies.
Last Updated: Nov. 8, 2021