NIH Trials

2019 -

Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

The Succinic Semialdehyde Dehydrogenase Deficiency (SSADH) Natural History Study Group of Drs. Gibson, Pearl, DiBacco, Krischer, Roullet, Opladen and Jeltsch, are officially opening their National Institutes of Health (NIH) - funded clinical study of patients with SSADH for enrollment.

The goal of the research team is to pioneer the first-ever description of the natural course of the disorder, find blood markers that will help in predicting disorder progression, monitoring treatment, and develop a newborn screening test to help end the challenging process for SSADH being diagnosed. Importantly, this study will help pave the way for FDA (Food and Drug Administration) approval of future medications to treat SSADH. Participation is limited but being offered at multiple sites, including Boston Children's Hospital in the United States as well as many other locations around the world. Participation is open to any patient with a confirmed diagnosis of SSADH, regardless of age and gender.

All are strongly encouraged to participate in the study. Simply email Dr. DiBacco or Jeltsch, their contact information is provided below, to get more information or to enroll. Your primary care doctor may also be able to help put you in contact with the research team.

The SSADH Association is fully supporting this study. We believe this study is a unique opportunity to learn more about SSADH, raise awareness about SSADH among doctors and other health care professionals, and provide a solid foundation for future clinical trials.

Additionally, this study will give you the chance to interact with the most experienced and knowledgeable SSADH medical professionals in the world. You will get a better understanding of SSADH and how SSADH is affecting your child. Please consider participation in this important study.

For more information or to enroll in the study please email:

Study Coordinator:  Dr. Melissa DiBacco by email at: Melissa.Dibacco@childrens.harvard.edu

Study Coordinator:  Dr. Kathrin Jeltsch by email at: Kathrin.Jeltsch@med.uni-heidelberg.de

Feel free to email me with any additional questions that you might have at: choffmanwi@aol.com

This is a link to the study on the NIH web site.

 



2018

Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

The study will be conducted by 4 academic institutions: Washington State University (WSU), Boston Children's Hospital (BCH), University of South Florida (USF), and University Children's Hospital Heidelberg (iNTD). The design of the study is mixed, with longitudinal and cross-sectional assessments over a period of 5 years.

Patients will be separated into three cohorts. The Boston Children's cohort will be a total of 20 patients in the United States. These patients will be followed for five years, and attend a visit to the hospital in years 1,3 and 5 where assessments including history/physical, neuropsychological testing, EEG, TMS, and bio-specimen collection will be completed. Each patient will have an MRI of the brain done with special GABA sequencing one time over the five years. Each visit will take place over the course of two days. At BCH, the goal will be to schedule visits every other year with questionnaires and surveys sent out up to every 6 months, and bio-specimen collection every year. The BCH team will also ask for two follow up phone calls occurring 12 months after each onsite visit. Visits will consist of clinical assessments (demographics, medical history, physical examination, neurological exam, medication history, neuropsychological assessments, and clinical severity score), neurophysiological assessments (Brain MRI/MRS/DTI, Electroencephalogram, and Transcranial magnetic stimulation), and yearly bio-specimen collection (blood, urine, saliva, hair, stool, and skin biopsy). Bio-specimens will be sent to Washington State University for testing and addition to a biorepository.

The iNTD (international NeuroTransmitters Disorders) cohort will be comprised of 15 patients who are seen at European sites who will have approval through their ethics committee to share de-identified information. Bio-specimens will be attempted to be collected at each visit from patients and sent to Washington State University. At the iNTD sites and for patients followed outside of iNTD, visits and bio-specimen collections will depend on the patients' follow-up schedules with electronic, web-based survey sent on a regular schedule (every 6 months).

The standard of care cohort will be comprised of 10 patients throughout the world who provide consent to their primary care physician to share de-identified information to the database.

The data will be stored in a database on the University of South Florida server. The server is password protected, and each member of the study personal will have a unique log in to have access to the site. Subjects will also be given specialized access to complete follow up electronic web based surveys twice a year over the course of 5 years. The team at USF will assist with data analysis.

This study will begin recruiting patients in early 2019, pending final IRB approval.

This is a link to the study on the NIH web site.


2017
$1.58 Million grant awarded to Mike Gibson, PhD. from the NIH National Eye Institute

One drug known as Vigabatrin or Sabril (brand name) has been used in some cases of SSADH to help control seizures.  However, Vigabatrin also has a severe side-effect known as night blindness which could potentially cause patients to permanently lose some degree of their peripheral vision if they take the drug long term.

The goal of this four year grant awarded to Dr. Gibson and a group of his colleagues, is to find a way to counteract that visual side effect of Vigabatrin.

Click here to read more about this grant.



2015 - 2018
Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency

The primary outcome measures for drug efficacy will be performance on neuropsychological testing and responses to parent questionnaire. The secondary outcome measure will be TMS parameters of cortical excitation and inhibition. The outcome measures for safety will include clinical examination and neuropsychological tests.

Click here to link to the NIH Web Site Regarding this Trial

 


2012 - 2014
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA

The objective of this open-label taurine study was primarily to assess the effect of taurine on adaptive behavior and secondarily to collect safety and tolerability data in patients with succinic semialdehyde dehydrogenase deficiency.

A single case of taurine therapy for 12 months in a 2-year-old boy with SSADH deficiency showed improved socialization, behavior, coordination, and activity.  This trial was an open-label trial with collection of baseline and follow-up data, preparatory to a randomized controlled trial utilizing biomarkers. The aim of this study was to assess the effect of taurine on adaptive behavior in SSADH deficiency.

Click this link to read the published outcome of the Taurine Trial.

 


2005 - 2008
Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency

This study used brain imaging to map brain cell receptors for a chemical called GABA, a chemical that inhibits the activities of nerve cells.  The study included patients with succinic semialdehyde dehydrogenase deficiency, or SSADH, their parents, and healthy volunteers.

The participants under went: Transcranial Magnetic Simulation (TMS), Magnetic Resonance Imaging (MRI), Electroencephalography (EEG), Sleep Study and Multiple Sleep Latency onset Testing (MSLT) and Nerve Conduction studies.

This is a link to the Study on the NIH web site.


2005 - 2008
PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency

This study used brain imaging to map brain cell receptors for a chemical called GABA, a chemical that inhibits the activities of nerve cells. The study includes patients with succinic semialdehyde dehydrogenase deficiency, or SSADH, their parents, and healthy volunteers.

Participants under went magnetic resonance imaging (MRI) and positron emission tomography (PET) scanning.

This is a link to the Study on the NIH web site.