RecruitingOBSERVATIONAL

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

This study focuses on a rare inherited condition called Succinic Semialdehyde Dehydrogenase (SSADH) deficiency, which affects the brain. It's a 'natural history' study, meaning researchers want to understand how the condition naturally develops and changes in people over many years, without testing new treatments. They will look at symptoms, brain activity using scans like MRI and EEG, and samples like blood and urine. Understanding how the condition progresses in different people and at different ages will help doctors better predict what to expect and potentially lead to new ways to help patients in the future. The study involves hospitals in the US and Europe.

At a glance

Status

Recruiting

Sponsor

Boston Children's Hospital

Enrolment target

Start

15 Jan 2019

Estimated completion

01 Jun 2029

Succinic Semialdehyde Dehydrogenase Deficiency

What is this study about?

This study aims to understand a rare genetic condition called Succinic Semialdehyde Dehydrogenase (SSADH) deficiency. In simple terms, this condition means the body has trouble breaking down a particular brain chemical called GABA. When GABA isn't processed correctly, other substances can build up, which can affect brain development and function.

Because this condition is rare, doctors don't fully understand how it affects people over their lifetime. For example, they want to know if symptoms change as people get older, or if certain brain changes can predict how severe the condition might be. This study is designed to answer these important questions by observing people with SSADH deficiency over several years. It's like watching a plant grow to understand its full life cycle – researchers want to see the 'natural course' of the condition.

The findings from this study will help doctors and scientists in several ways. They hope to create a clearer picture of what to expect for individuals with SSADH deficiency. This knowledge could lead to earlier diagnosis, better ways to track the condition, and eventually, the development of more effective treatments to improve the lives of those affected.

Key takeaways

This study aims to understand a rare genetic brain condition called SSADH deficiency.
It's a 'natural history' study, meaning no new treatments are being tested; it's about observing the condition.
Participation involves periodic hospital visits over five years for tests like MRI, EEG, and collecting samples.
The goal is to learn how the condition changes over time and to help doctors improve future care.
People of any age with a confirmed diagnosis of SSADH deficiency may be eligible to join.

Who may be eligible?

To be able to join this study, you must have a confirmed diagnosis of 4-hydroxybutyric aciduria (also known as γ-hydroxybutyric aciduria). This diagnosis is usually made by a doctor and means you have higher levels of a specific substance in your body.

Additionally, genetic testing must have shown that you have a specific change (called a pathogenic ALDH5A1 mutation) in your genes. This confirms the genetic cause of your condition. Participants of any age, from newborns to 99 years old, can be considered for the study.

However, there are some reasons why you might not be able to take part. For example, if you have a medical condition or take medication that would make it unsafe for you to have an MRI scan (like certain implanted devices), or if you wouldn't be able to follow the study procedures. People who have had active substance abuse within the last year would also be excluded.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do you have a doctor-confirmed diagnosis of 4-hydroxybutyric aciduria?
Do you have a confirmed genetic change (ALDH5A1 mutation) for SSADH deficiency?
Are you able to attend study visits and participate in the required tests?
Do you have any metal implants or devices that would prevent you from having an MRI?
Have you been free from substance abuse for the past year?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would be followed for up to five years. For participants at Boston Children's Hospital in the US, this would involve three visits to the hospital over five years (in years 1, 3, and 5). Each of these visits would last two days. During these visits, you would have a thorough check-up, including a physical exam, brain activity tests like an EEG and special brain scans (MRI), as well as tests of your thinking and memory skills. You would also be asked to provide samples like blood, urine, saliva, hair, and stool, and potentially a very small skin sample. Between visits, you might be asked to complete questionnaires or surveys every six months, and provide samples yearly. There would also be two follow-up phone calls after each hospital visit.

For participants in Europe, the process would be similar, involving sharing de-identified medical information, and where possible, collecting biological samples to send to Washington State University for analysis. The exact number of visits in Europe would depend on local arrangements. The study involves observing your condition and changes over time, rather than testing any new medicines or treatments.

Potential risks and benefits

Taking part in this study may or may not directly benefit you, as its main goal is to understand the condition better for future patients. However, you will receive thorough medical and neurological evaluations that could provide valuable information about your health. Potential risks include discomfort from blood draws, the usual small risks associated with MRI scans (such as claustrophobia or allergic reactions to dyes, though dyes are not mentioned here), and the Transcranial Magnetic Stimulation (TMS) procedure which involves magnetic pulses. While generally safe, TMS can cause mild headaches or muscle twitches, and very rarely seizures. You are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (4)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Boston Children's Hospital
Verified postcode
Boston, United States· Recruiting
University Children's Hospital
Verified postcode
Heidelberg, Germany· Recruiting
Sant Joan de Deu Hospital Barcelona
Verified postcode
Barcelona, Spain· Active not recruiting
Birmingham Children's Hospital NHS Foundation Trust
Verified postcode
Birmingham, United Kingdom· Not yet recruiting

Common questions

What is SSADH deficiency?

It's a rare genetic condition where your body has trouble processing a brain chemical called GABA, which can affect brain development and function.

Is this study testing a new treatment?

No, this is a 'natural history' study, meaning researchers are observing how the condition progresses naturally, not testing new medications or treatments.

How long will I need to be in the study?

If you join, you would be followed for up to five years, with a few visits to the hospital and some at-home check-ins.

Will I have to travel for the study?

Some participants will need to visit specific hospitals in the US or Europe for their study appointments.

What is a 'bio-specimen collection'?

It means providing samples like blood, urine, saliva, hair, stool, and potentially a small skin sample for researchers to study.

How to find out more

Melissa L DiBacco, MD

melissa.dibacco@childrens.harvard.edu 617-919-4617 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.