Clin2
NCT04143295Worth exploringAvailable

Prenatal treatment for babies with MCT8 deficiency

Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

Part of Genetic & congenital, Hormones & metabolism clinical trials.

This trial tests if giving a treatment during pregnancy can help protect brain development in babies with MCT8 deficiency, a rare genetic condition that affects movement and thinking. The goal is to see if early treatment can improve the baby's health and quality of life.

Summary written for real people, not researchers, by Clin2.

Phase
N/A
Ages
Up to 18 years
Study type
Expanded Access

Who can take part

  • Your baby (or a twin) must have a confirmed MCT8 gene mutation.
  • Your family must have a history of the same MCT8 condition in a previous child or a relative.
  • You must plan to continue the pregnancy rather than end it.
  • You must be willing to follow all study procedures and be available for the full study period.
  • You cannot have certain heart, liver, or kidney conditions, or use certain medications, and you must not have a non-identical twin pregnancy unless only one baby has the MCT8 mutation.

View the official record on ClinicalTrials.gov

Quick eligibility check

Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.

Similar studies

Other trials that look related to this one.

NCT06340685Recruiting· Phase 1
Triheptanoin for children with PDC deficiency

This trial tests an oil called triheptanoin for children with a rare genetic condition (PDCD) that affects how their bodies use energy. The study aims to see if triheptanoin can help improve their health.

Pittsburgh, Pennsylvania
NCT04113447Recruiting
Mitochondrial donation study for parents of confirmed mtDNA mutation

This study follows families using mitochondrial donation to reduce the risk from a confirmed mitochondrial DNA (mtDNA) mutation. It aims to learn outcomes over about 18 months of the child’s life and whether the treatment works well and safely for families like yours.

Newcastle upon Tyne, Tyne & Wear
NCT07102524Recruiting· Phase 1/Phase 2
Gene therapy for SLC13A5 citrate transporter disorder

This trial tests a new gene therapy (TSHA-105) given through a spinal tap to treat SLC13A5 citrate transporter disorder, a genetic condition that affects the brain and body. The goal is to see if it can help improve symptoms by delivering a working copy of the gene.

Dallas, Texas
NCT06931262AVAILABLE
DCA treatment for people with PDCD

This trial provides access to an investigational drug called DCA (dichloroacetate) for people with pyruvate dehydrogenase complex deficiency, a rare genetic condition that affects energy production in the body. The goal is to offer a possible treatment option for those who have few other choices.

NCT04802707Recruiting· Phase 2
Study drug for mitochondrial depletion disorder due to gene changes

This Phase 2 trial tests a treatment made from deoxynucleosides to help people with mitochondrial depletion disorder caused by certain gene changes. If you match the genetic diagnosis, the study may see whether the treatment improves symptoms or disease markers.

Montreal, Quebec
NCT05600946Recruiting
Study of body differences in creatine transporter deficiency

This study looks at physical and body features in people with creatine transporter deficiency caused by a specific gene change (SLC6A8). It may help doctors better understand the condition and how it shows up, which can improve future care.

Bethesda, Maryland

Hear when a new Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency trial opens

We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.