Clinical trials: Brain Malformation
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Chorea
First Time Use of SD-809 in Huntington Disease
The purpose of this study is to determine whether SD-809 tablets are effective in the treatment of chorea associated with Huntington's Disease.
- Trial name
- First-HD (NCT01795859)
- Testing
- SD-809
- Where
- 43 sites in United States, Australia and 1 more
- Volunteers
- 90 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Tourette Syndrome
A Randomized, Placebo-controlled, Tourette Syndrome Study.
Previous studies using topiramate in Tourette subjects have shown that with the use of this medication subjects report that their tics get better.
- Trial name
- NCT00206323
- Testing
- Topiramate (drug)
- Volunteers
- 29 people
- Sponsor
- Baylor College of Medicine
Tuberous Sclerosis Complex, Epilepsy
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
This phase I/II clinical trial is an open-label clinical trial design to verify safety and dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5).
- Trial name
- STOP2 (NCT04595513)
- Testing
- TAVT-18 (sirolimus)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme.
- Trial name
- NCT00074984
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 26 sites in United States, Canada and 4 more
- Volunteers
- 82 people
- Sponsor
- Genzyme, a Sanofi Company
Friedreich's Ataxia
Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients
This study is meant to assess the safety and tolerability of idebenone in patients with Friedreich's Ataxia over a 12 months period.
- Trial name
- IONIA-E (NCT00697073)
- Testing
- Idebenone
- Where
- 2 sites in United States
- Volunteers
- 68 people
- Sponsor
- Santhera Pharmaceuticals
Craniosynostosis
MRI for Non-invasive Evaluation of Brain Stress
Craniosynostosis is a birth defect that causes the bones on a baby's head to fuse together earlier than normal. This causes the baby to have an abnormally shaped head.
- Trial name
- NCT01898650
- Testing
- MR scan
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Tourette Syndrome
Tourette Deep Brain Stimulation (DBS) Target Detection & Suppression
The investigators will implant and monitor 8 research subjects with a subcortical closed-loop system for detection and suppression of tics in subjects with medically refractory debilitating Tourette Syndrome.
- Trial name
- NCT05371041
- Testing
- Medtronic Percept Neurostimulator
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Florida
Age-Related Macular Degeneration, Macular Degeneration
Repeated Eye Injections of Aflibercept for Treatment of Wet Age Related Macular Degeneration
To evaluate the visual outcome and number of injections required during an optical coherence tomography (OCT)-guided treat and extend regimen with intravitreal aflibercept for treatment of subfoveal neovascular age-related…
- Trial name
- ATLAS (NCT01773954)
- Testing
- Intravitreal Aflibercept Injection
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- MidAtlantic Retina
Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric
Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency
The purpose of this study is to evaluate the ability of Phenoptin to control blood phenylalanine levels in subjects who have hyperphenylalaninemia due to a primary BH4 deficiency and to evaluate the safety of Phenoptin in this…
- Trial name
- NCT00355264
- Testing
- Phenoptin
- Where
- 10 sites in United States, Germany
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Heart Defects, Congenital, Cardiopulmonary Bypass
Nesiritide Use Following Cardiac Surgery in Infants
The purpose of this study is to determine the effects of nesiritide on urine output and hemodynamics following cardiopulmonary bypass in infants. Safety and pharmacokinetic data will also be obtained.
- Trial name
- NCT00281671
- Testing
- nesiritide
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Boston Children's Hospital
Turner Syndrome
Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome
The purpose of this research study is to learn about brain development in very young girls with Turner syndrome (TS) and the effect that growth hormone (GH) therapy has on early brain development.
- Trial name
- NCT01367834
- Testing
- somatotropin
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Rebecca Knickmeyer Santelli, PhD
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Urea cycle disorders are inherited illnesses in which the body does not produce enough of the chemicals that remove ammonia, a byproduct of protein metabolism, from the blood stream.
- Conditions
- Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00345605
- Testing
- Sodium Phenylbutyrate, Arginine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Brendan Lee
Huntington's Disease
Study of Memantine to Treat Huntington's Disease
To determine if memantine in doses of 10 mg BID affects memory, cognition, and behavior in patients with Huntington's disease (HD).
- Trial name
- NCT00652457
- Testing
- Memantine
- Where
- 3 sites in United States
- Volunteers
- 50 people
- Sponsor
- Jody Corey-Bloom, MD, PhD