Calling for Reform in US Newborn Screening

Alice McConnell presented at the World Orphan Drug Congress in Boston on April 25th.  We are grateful to Alice who took the opportunity to speak out about the need to revolutionize newborn screening in America. Alice did a great job to show the inequity in our system that has been in place since the 1960’s.

Pictured above are Evie and Jack McConnell, the motivating kids for
Alice’s fight to reform Newborn Screening.

Alice has put a monumental amount of work into Newborn Screening and has successfully created a multiplex test for determining SSADHD from a drop of blood with 20 other rare disorders in a tier I screen.  The hope is that because the test can diagnosis a number of diseases, it will be more likely to be used.

Newborn screening is the best possible way that we have to find the full impact of SSADH Deficiency.  Based on the latest prevalence work from Sarah Elsea, PhD. from Baylor College of Medicine, we only have three percent of the patients registered with the SSADH Association. 

The impact of that is reflected in the fact that our Natural History Study, Patient Focused Drug Development Meeting, Voice of the Patient Report, etc. is only representing a very small portion of our community.

The low number of patients that we have registered will also make it virtually impossible to get through the Drug Approval Process with the Food & Drug Administration (FDA).  The small number doesn’t make it attractive for investors to fund the millions of dollars that will be needed to get through the safety and toxicology requirements, and the multiple trial phases required by the FDA. It will also make it challenging to come up with the number of patients willing to participate in the treatment trials.

Please encourage each SSADH family you come across to register with the SSADH Association for all the extremely important reasons noted above. 

Below is Alice’s Presentation

Thank you Alice, for the strides that you have made towards helping to find additional SSADHD patients.