Boston, MANCT03758521Now EnrollingIRB Ready

Succinic Semialdehyde Dehydrogenase Deficiency Clinical Trial in Boston, MA

Access cutting-edge succinic semialdehyde dehydrogenase deficiency treatment through this clinical trial at a research site in Boston. Study-provided care at no cost to qualified participants.

Sponsored by Boston Children's Hospital

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Expert Care in Boston

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IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related succinic semialdehyde dehydrogenase deficiency treatment provided free

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Why Participate?

  • No-Cost Study Care

  • Local to Boston

    Convenient for MA residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit Boston site if eligible
  4. 4Begin participation

About This Succinic Semialdehyde Dehydrogenase Deficiency Study in Boston

Succinic Semialdehyde Dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disease that interferes with the catabolism of the major inhibitory neurotransmitter gamma-amino butyric acid (GABA) and furthermore leads to accumulation of various potential toxic metabolites, most prominently gamma hydroxybutyric acid (GHB). Current research indicates that there is developmental delay and significant neurophysiological and biochemical alterations in SSADHD patients, but whether disease presentation varies with age is not known. The investigators propose to determine the natural course of the clinical presentation of SSADHD; to determine the natural course of neurophysiological and biochemical indices known to be altered in SSADHD; and to identify neurophysiological and biochemical predictors of clinical severity. The overall objective is to define the natural course of the clinical, neurophysiological and biochemical spectrum of SSADHD. Secondary objectives include the identification of biomarkers that correlate with disease phenotype and predict clinical outcomes, and the creation of an international SSADHD data repository for future investigation of pathogenesis and therapy.

Sponsor: Boston Children's Hospital

Who Can Participate

Inclusion Criteria

4-hydroxybutyric aciduria (γ-hydroxybutyric aciduria)
documented pathogenic ALDH5A1 (aldehyde dehydrogenase 5A1 gene) mutation

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.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Boston?

Yes, this clinical trial (NCT03758521) has an active research site in Boston, MA that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Succinic Semialdehyde Dehydrogenase Deficiency Treatment Options in Boston, MA

If you're searching for succinic semialdehyde dehydrogenase deficiency treatment options in Boston, MA, this clinical trial (NCT03758521) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Boston research site is actively enrolling participants for this clinical trial. You'll receive care from experienced succinic semialdehyde dehydrogenase deficiency specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all succinic semialdehyde dehydrogenase deficiency clinical trials near you to find additional studies recruiting in your area.

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