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Rare brain disorder study seeks clues to disease progression

NCT ID NCT03758521

Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tracks up to 55 people with SSADH deficiency, a rare genetic disorder that affects brain function. Researchers will measure symptoms, brain activity, and chemical levels in the body over time to see how the disease changes with age. The goal is to find markers that predict disease severity and build a database for future research.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 55 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2019

Expected to finish

Jun 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Children and adults diagnosed with Succinic Semialdehyde Dehydrogenase (SSADH) deficiency.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 4-hydroxybutyric aciduria (γ-hydroxybutyric aciduria) * documented pathogenic ALDH5A1 (aldehyde dehydrogenase 5A1 gene) mutation * 0-99 years Exclusion Criteria: * active or recent substance abuse or dependence within the past year. * inability to participate in the study procedures. * any condition that makes the study subject, in the opinion of the investigator, unsuitable for the study. * patients will be excluded from the MRI section of the study if they have: implanted cardiac pacemaker or autodefibrillators, implanted neural pacemakers, cochlear implants, metallic foreign bodies in the eye or Central Nervous System (CNS), any implanted wire or metal device that may concentrate radio frequency fields. * patients less than age two years will be excluded from the TMS procedure.

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Conditions

The condition(s) this trial relates to.

succinic semialdehyde dehydrogenase deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Succinic semialdehyde dehydrogenase deficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    3 sites in 3 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Birmingham Children's Hospital NHS Foundation Trust

    NOT_YET_RECRUITING

    Birmingham, United Kingdom

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Sant Joan de Deu Hospital Barcelona

    ACTIVE_NOT_RECRUITING

    Barcelona, Spain

  • University Children's Hospital

    RECRUITING

    Heidelberg, Heidelberg, Germany