Survey on Classical Homocystinuria Patients Missed by Newborn Screening

 

I would appreciate your support in answering a brief survey to help support efforts to improve newborn screening for classical homocystinuria.

I have been working with HCU Network America, a patient advocacy and support group for Homocystinuria (HCU), for whom I serve as a medical advisor.  One of their key goals is to improve newborn screening for HCU, as it is estimated that over half of patients are missed by the current screening process and often are not diagnosed until they have developed serious clinical symptoms.  To build support for an improved process, we are collecting information on patients missed by the current screening process, which we intend to then publish in a consolidated case report.

 

Sincerely,

Can Ficicioglu, M.D., Ph. D.

Director of Newborn Metabolic Screening Program, Children’s Hospital of Philadelphia