Clinical trials: Monocarboxylate Transporter 8 (MCT8) Deficiency
Monocarboxylate Transporter 8 Deficiency
Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
Rationale: Thyroid hormone (TH) is crucial for normal brain development. The transporter monocarboxlate transporter 8 (MCT8), located at various organs including brain neurons, is crucial for cellular transport of TH, mainly T3 .
- Trial name
- NCT05019417
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML
- Where
- Israel
- Volunteers
- 6 people
- Sponsor
- Kaplan Medical Center
Monocarboxylate Transporter 8 (MCT8) Deficiency, Allan-Herndon-Dudley Syndrome
MCT8 Deficiency Caregiver Study
Caregivers face many responsibilities outside of their role as a friend or parent, which can lead to emotional, financial, social, and professional challenges.
- Trial name
- NCT06060197
- Where
- United Kingdom
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Rare Thyroid Therapeutics International AB
Allan-Herndon-Dudley Syndrome
Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients
This therapeutical trial will be conducted in patients with the Allan-Herndon-Dudley Syndrome (AHDS), which is mutations in MCT8.
- Trial name
- NCT02060474
- Testing
- Triac
- Where
- Netherlands
- Volunteers
- 46 people
- Sponsor
- Erasmus Medical Center
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency
Rescue of Infants With MCT8 Deficiency
Monocarboxylate Transporter 8 (MCT8) deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with…
- Trial name
- DITPA (NCT04143295)
- Testing
- Diiodothyropropionic acid (DITPA)
- Where
- United States
- Sponsor
- Roy E. Weiss, M.D.
Monocarboxylate Transporter 8 Deficiency, Allan-Herndon-Dudley Syndrome
Expanded Access Program for Tiratricol in Patients With Monocarboxylate Transporter 8 Deficiency
The goal of this program is to provide expanded access (i.e., before marketing authorization) to tiratricol as treatment for patients with monocarboxylate transporter 8 deficiency (MCT8 deficiency, also known as…
- Trial name
- NCT05911399
- Testing
- Tiratricol
- Where
- 17 sites in United States
- Sponsor
- Rare Thyroid Therapeutics International AB
Monocarboxylate Transporter 8 Deficiency, Allan-Herndon-Dudley Syndrome
Withdrawal of Tiratricol Treatment in Males With Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency)
This is a double-blind, randomized phase 3 multicenter placebo-controlled study in at least 16 evaluable male participants diagnosed with MCT8 deficiency.
- Trial name
- ReTRIACt (NCT05579327)
- Testing
- Tiratricol
- Where
- 8 sites in United States, Netherlands and 1 more
- Volunteers
- 20 people
- Sponsor
- Rare Thyroid Therapeutics International AB
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Allan-Herndon-Dudley Syndrome
Triac Trial II in MCT8 Deficiency Patients
This study will investigate the effect of treatment with tiratricol (also called Triac) in young boys (≤30 months) with MCT8 deficiency (also called the Allan-Herndon-Dudley syndrome (AHDS)).
- Trial name
- NCT02396459
- Testing
- Tiratricol
- Where
- 5 sites in United States, Czechia and 2 more
- Volunteers
- 22 people
- Sponsor
- Rare Thyroid Therapeutics International AB