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Studies

  Get Involved   >   Studies

 How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.

 

 How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.

 
 
 
STAIR Research Studies:

Sitosterolemia

Sjögren-Larsson Syndrome

Zellweger Spectrum Disorder

Coming Soon

  • 7011: Natural History of Succinic Semialdehyse Dehydrogenase Deficiency
  • 7012: Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation
 
Past Research

7001: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation

7002: Assessment of Sterol Metabolism in Sitosterolemia: A Pilot Study of Patients Treated with Ezetimibe

7003: B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) form of Mevalonate Kinase Deficiency (MKD)



Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.