Clinical trials: Brain Malformation
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
OCD
The Imaging Genetic Study of the Core Family of Obsessive-compulsive Disorder (OCD) Patient
To investigate the structural/functional abnormalities and the possible genetic endophenotypes of Obsessive-compulsive disorder (OCD) patients and their core families.
- Trial name
- NCT01298622
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Kunming Medical University
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Phenylketonurias
PKU Skin Stripping
PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.
- Trial name
- NCT04368624
- Testing
- Skin Tape, Blood Draw
- Where
- United States
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Gaucher's Disease Type I
A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
Objectives: To determine pharmacokinetic (PK) variables, including absolute bioavailability (F), of Genz-99067, the free base of the L-tartaric acid salt of Genz-112638 as it exists in plasma, after a single intravenous (IV) dose…
- Trial name
- NCT06143904
- Testing
- Genz-112638, [14C]-Genz-112638
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sanofi
Myotonic Dystrophy Type 2, Myotonic Dystrophy Type 1
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life.
- Trial name
- BraCE-DM2 (NCT05854433)
- Testing
- Non-interventional study
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Parkinson's Disease, Parkinsonian Disorders
Gait Analysis in Neurological Disease
The purpose of this study is to investigate whether speed-dependent measures of gait (so called gait signatures) can be identified in patients with neurological conditions that affect gait, particularly in subjects with…
- Conditions
- Parkinson's Disease, Parkinsonian Disorders, Atypical Parkinson Disease, Progressive Supranuclear Palsy
- Trial name
- NCT02994719
- Testing
- Anti-Parkinson medication, Deep Brain Stimulation
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Fabry Disease, Healthy
PET Scans in Normal Volunteers and Patients With Fabry Disease
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism.
- Trial name
- NCT00005111
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Parkinson Disease, Diabetes Mellitus, Type 1
Biological Sample Collection for Research and Biobanking
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to study different conditions and diseases by using cells from the body (such as skin or blood cells).
- Conditions
- Parkinson Disease, Diabetes Mellitus, Type 1, Macular Degeneration, ALS
- Trial name
- NCT04270604
- Testing
- Biological sample collection
- Where
- United States
- Volunteers
- 1,279 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Huntington's Disease
[PETDE10] Imaging of PDE10A Enzyme Levels in Huntington's Disease Gene Expansion Carriers and Healthy Controls With PET.
The aim of this study is to measure the availability of the PDE10A enzyme in Huntington disease gene expansion carriers (HDGECs) using the recently developed radioligand [18F]MNI-659.
- Trial name
- PEARL-HD (NCT02061722)
- Testing
- PET Imaging with [18F]MNI-659
- Where
- 8 sites in Denmark, Netherlands and 2 more
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- CHDI Foundation, Inc.
Parkinson Disease, Multiple System Atrophy
Retinal Abnormalities as Biomarker of Disease Progression and Early Diagnosis of Parkinson Disease
To determine whether retinal abnormalities, as measured by high definition optical coherence tomography (HD-OCT) and visual electrophysiology techniques can be used as a clinical biomarker to monitor disease progression overtime…
- Conditions
- Parkinson Disease, Multiple System Atrophy, REM Sleep Behavior Disorder, Pure Autonomic Failure
- Trial name
- NCT02640339
- Where
- United States
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Phenylketonuria (PKU)
The Psychosocial Functioning of Adults With Phenylketonuria.
Current recommendations are to maintain Phe levels < 360 µmol/L throughout life (US consensus) or < 600 µmol/L from the age of 12 (European consensus).
- Trial name
- CoMet-PCU (NCT07406009)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Gaucher Disease
A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of single dosing study with three ascending dose cohorts of ISU302 in healthy subjects.
- Trial name
- NCT01881633
- Testing
- ISU302
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- ISU Abxis Co., Ltd.
Classic Galactosemia
Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
- Trial name
- NCT04117711
- Testing
- AT-007
- Where
- 4 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Applied Therapeutics, Inc.
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Myotonic Dystrophy 1, Myotonic Dystrophy 2
Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study
The natural history of brain affection in myotonic dystrophy types 1 and 2 is still unknown. The investigators designed a 5-year longitudinal neuropsychological and neuroimaging follow-up study to address this issue.
- Trial name
- NCT02729597
- Testing
- medical history, neurological clinical examination, neuropsychological testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bonn
Huntington Disease
Early Biomarkers in Premanifest Huntington's Disease Gene Carriers: a Pilot Study
The goal of this clinical trial is to investigate if new, early biomarkers of the disease are available in presymptomatic genetic carriers of Huntington\&#39;s diesase compared to healthy subjects.
- Trial name
- BIO-MH (NCT06626308)
- Testing
- brain functional MRI
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew