Although it is scary, please know that there’s slow, careful work going on to try and improve treatments and care for rare disease. You are not alone and you can do something to help. 

Rare conditions were historically not heavily focused on by treatment developers. A lot has changed since 1983 due to the Orphan Drug Act which put in place attractive incentives for drug developers such as increased tax breaks, favorable regulatory paths and additional economic and competitive advantages. Over the last few years, about 40-50% of drugs approved by the FDA every year are for a rare diseases. 

This means that even though less than 5% of rare genetic conditions have an approved treatment, there are more clinical trials than ever before for rare diseases. Clinical trials are used to either understand more about a condition or test out treatments that can help. These are usually run by people that are practicing doctors that also do research. 

Steps to finding a clinical trial:

1.  Going to clinicaltrials.gov

2. Searching by disease or the gene involved in your disease (sometimes searching by alternative names of your disease or gene is necessary)

3. On the left side panel, add a check box next to actively recruiting 

4. check box next to interventional clinical trial if you are interested in research for new treatments and/or observational trial if you would like to contribute to general research about your condition which may in the future aid in treatment development efforts. 

5. If any are available, from the list of options that come up read a description of the study protocol. This will explain exactly what the research is going to try and investigate, what it will require from participants (in terms of time, effort and if any lab tests need to be done). 

6. Now here’s the part that’s usually the trickiest: check if you’re eligible. Usually trials have a list of inclusion criteria (characteristics a person has to have) and a list of exclusion criteria (characteristics that a person must not have). An example of a common inclusion criteria is a specific symptom or lab test result. An example of common exclusion criteria might be you can not have been on certain medications already. 

6. If you meet the criteria reach out to the clinical trial coordinator by phone or email and they will verify whether you are eligible as well as address any additional questions or concerns. Their contact information can be found in the listing.