NEWS

We are thrilled to announce that the grant for the SSADH Deficiency Natural History Study was renewed by the National Institutes of Health (NIH) to allow collection of more data over the next five years to increase our understanding of the disorder. 

This will also allow for us to be optimally positioned to proceed with clinical trials as soon as treatments, are ready for human trial.

The initial five years of the natural history study proved to be very successful and the recruitment exceeded the proposed goal of 55 patients with a total of 72 SSADHD patients and 28 controls.

Additionally, a novel clinical severity scale (CSS) has been developed and validated using an objective rating scale for comparison, with the CSS accessible for standard clinical practice.

A collaborative consensus of investigators published a paper for the Diagnosis and Management of SSADHD. The consensus group included 23 participants from 19 institutions of 11 countries from five continents.

Fifteen Supplemental Manuscripts have been published in the journal of Child Neurology.

Nine abstracts and posters have been created and presented at various events including the Child Neurology Society Meeting and the American Epilepsy Society, Annual Meeting.

Six Book Chapters or Reviews have been created for Medlink, Physician’s Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases, 2nd Edition of the Cambridge University Press.

There have been no adverse events related to the study.

We are grateful to the NIH to keep this study going for an additional five years and equally grateful to those who participated in the study.

Click here to read more about the Natural History Study on the NIH web site.