Call for participants in an

RYR1 pregnancy and bleeding study

Researchers from King’s College London are looking for women over the age of 18 to participate in their research study titled "Abnormal bleeding and pregnancy related complications in women with skeletal RYR1 mutations."

They have developed an online questionnaire to screen for abnormal bleeding and pregnancy related complications in women with mutations in the Type-1 ryanodine receptor (RYR1).

Participation in this study will involve completing a questionnaire on Microsoft Forms. This will require internet connection and should take less than 15 minutes to complete. You are being asked to participate in the second phase of the research study and your responses will be completely anonymous.


Researchers are asking individuals to complete this questionnaire for one of two reasons:

1) You are part of an RYR1 support organization (such as The RYR-1 Foundation) and have been diagnosed with a mutation in RYR1


2) You are a female relative of someone with an RYR1 mutation and you do not have an RYR1 mutation. Your responses will be compared to those of individuals with RYR1 mutations who are otherwise genetically similar. This will help the researcher to analyze if it is specifically the RYR1 mutation that increases the risk of abnormal bleeding and pregnancy related complications.


Please click HERE to read the information sheet. If you wish to participate in the study, please click HERE to access the questionnaire.


If you have any questions, please read the information sheet, or contact Arti Mistry at

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