Current Research

2019
In support of the Natural History Study and the SSADH Biorepository $25,000 was approved to fund the travel expenses
of families living outside of the United States to participate in this study at Boston Children's Hospital.

Additionally, $37,000 was committed to provide an extra $1,500 beyond the travel funds within the grant from the Natural History Study for US families traveling to Boston Children's Hospital.

$10,000 was awarded to JEX Services to establish a Backup Mice Colony to ensure the availability of SSADH Mice should something happen to the existing colony at Washington State University, preventing any lapse in research due to the lack of SSADH mice.

 


2018

$125,000 was awarded to Phillip Pearl, MD & Mustafa Sahin MD, PhD at Boston Children’s Hospital and Harvard Medical School.  Our award was matched by an anonymous $175,000 donation on behalf of the Boston Children’s Hospital Trust.

This project will be a continuation of our initial funding from 2015 to create SSADH stem cells and heterozygous controlled GABA’ergic iPSC lines.  The goal of this phase will be to use the patient iPSC neurons to screen for novel therapeutic approaches to treatments.

$12,000 was awarded to Ritva Tikkanen, MD, PhD from Justus-Liebig Universität Gießen, Germany to create molecular consequences of SSADH mutations allowing for mutation specific therapies.  Dr. Tikkanen will be using the SSADH stem cell lines created at Boston Children’s Hospital.

$10,000 was awarded to JEX Services to establish a Backup Mice Colony to ensure the availability of SSADH Mice should something happen to the existing colony at Washington State University, preventing any lapse in research due to the lack of SSADH mice.


 

2017

Up to $305,616 was awarded to K. Michael Gibson, PhD, FACMG at Washington State University for the SSADH Biorepository project which aims at creating a biobank where biospecimens and matching clinical data are collected longitudinally from all interested parties: patients, siblings and family members and unaffected, age-matched control individuals.

The Biorepository will be created over the next five years with the following team:  Drs. Gibson and Roullet, (WSU), Dr. Pearl (BCH), Dr. Opladen (iNTD, Heidelberg, Germany) and the SSADH Association.

The Boston Children’s Hospital team of Phil Pearl, MD & Robin Kleiman, PhD were provided $100,000 to develop an in vitro disease model of SSADH from patient iPSC lines differentiated into GABAergic neurons that will support phenotypic drug screening.  They have successfully created three patient cell lines and three heterozygous controls, one with the CRISP-R
correction for state of the art testing by allowing for an isogenic control which allows researchers to control for the effects of other genes.

The next stage, which has already started, is to identify the best clones for phenotyping of the cells.  The plan is to start with cellular electrophysiology and assays of the cellular characteristics, including organelle quantification, RNA sequencing and microRNA research.

$10,000 was awarded to JEX Services to maintain a Backup Mice Colony to ensure the availability of SSADH Mice should something happen to the existing colony at Washington State University, preventing any lapse in research due to the lack of SSADHD mice.

 

The SSADH Association was working with Dr. Gibson and Alice McConnell to get an ICD-10 code assigned to SSADH by the Centers for Disease Control (CDC) in the United States.  This will allow medical professionals to code a doctor visit for SSADH.

We believe because the phenotype of SSADH patients is very broad, a unique ICD-10 code would help physicians identify patients and work together more effectively on SSADH issues.

 


2016

$100,000 was awarded to K. Michael Gibson, PhD, FACMG at Washington State University to garner efficacy data over a two year period, in the SSADH animal model to form the framework for the Investigational New Drug Application with the NIH for the use of compounds NCS-382 (GHB Antagonist) and HOCPCA.

This grant led to the success of a Small Business Technology Transfer (STTR) award from the National Institutes of Health (NIH) allowing for a Phase I Toxicology Study on NCS-382.  The goal is to complete this study by the fall of 2017. Pending results, we will then apply for a Phase II study potentially moving NCS-382 into a NIH clinical trial.

$125,000 was awarded to Phil Pearl, MD & Robin Kleiman, PhD, to fund a one year research grant in conjunction with Boston Children’s Hospital and Harvard University. The objective of this project is to develop an in vitro disease model of SSADH from patient iPSC lines differentiated into GABAergic neurons that will support phenotypic drug screening.

$10,000 was committed to kick off a Natural History Study with the US medical team of Phil Pearl, MD, (Boston Children's Hospital), Jean-Baptiste Roullet, PhD, and Mike Gibson, PhD, FACMG, (both from WSU), together with Evangeline Wassmer, PhD (UK), Thomas Opladen, MD, (Germany) and Garcia-Cazorla, PhD, (Spain) who will work with the SSADH Association on a grant proposal to support a multi-year (5+) and multi-site natural history study of SSADH patients.


2015

$158,950 was awarded to the University of California, San Diego to determine if the induction of autophagy by rapamycin would remove surplus organelles, thus reducing oxidative stress and restoring cellular homeostasis which may lead to potential treatments for SSADH. Evaluation of autophagy in SSADH is being done to measure compounds in blood that provide evidence for disruption of the process called autophagy in patients. Autophagy is a process known to occur in microbes, whereby the body can regenerate nutrients from cells that have died or when the body is in need of energy during starvation.

$100,000 was awarded to K. Michael Gibson, PhD, FACMG at Washington State University to garner efficacy data in the SSADH animal model to form the framework for the Investigational New Drug Application with the NIH for the use of compounds NCS-382 and HOCPCA.

$5,000 was awarded to Kestutis G. Bendinskas, PhD at SUNY-Oswego to develop an easy to use field colorimetric assay screen to detect the biomarker for SSADH gamma hydroxybutyric acid (GHB), in either urine or saliva to screen candidates.

 

Preliminary discussions between the SSADH Association and Aldeyra Therapeutics have taken place to fund some additional research projects to further the understanding of a new medication that has showed some promising results to date in preliminary studies.


2014

$45,000 was awarded to the NIH for the Phase 2 Clinical Trial of SGS-742 Therapy in SSADH Patients.  The money will be used to synthesize and encapsulate the SGS-742 compound for the Phase 2 Trial.

Evaluation of Metabolites in SSADH Urine is being studies by Kara Vogel, PhD. at Washington State University to explore the possibilities for SSADH patients.

Investigation of the immunological response in SSADH cells by Karen Newell-Rogers, PhD at
Texas A & M to understand the alterations in metabolism and immunity using the SSADH mouse model.


2013

SSADH Association awards a $79,500 Research Grant to Ronak Lakhani, PhD
Dr. Ronak Lakhani at the University of California, San Diego, will continue his 2013 SSADH research through 2014. Dr. Lakhani will determine if the induction of autophagy by Rapamycin would remove surplus organelles, thus reducing oxidative stress and restoring cellular homeostasis which may lead to potential treatments for SSADH.

SSADH Association awards a $79,450 Fellowship Grant to Ronak Lakhani, PhD
Dr. Ronak Lakhani is a Post-Doctoral Fellow at the University of California, San Diego. In early 2013, Dr. Lakhani submitted an application for the SSADH Association to fund a project that may lead towards an eventual clinical trial to treat SSADH.