Clinical trials: Brain Diseases, Metabolic, Inborn
Bardet Biedl Syndrome (BBS)
Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia.
- Trial name
- AlBaathU (NCT06615011)
- Volunteers
- 100 people
- Sponsor
- Al Baath University
Homocystinuria
Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers
This is a Phase 1, double-blind (Sponsor-open), placebo-controlled, randomized, dose-escalation, inpatient study using a multiple-ascending dose (MAD) design to assess the safety, tolerability, and PD of SYNB1353 in HVs.
- Trial name
- HCU (NCT05462132)
- Testing
- SYNB1353
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Synlogic
Friedreich Ataxia
An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia
The purpose of this study is to document the clinical effects of bupropion and citalopram in a single subject with Friedreich Ataxia.
- Trial name
- NCT01716221
- Testing
- bupropion & Citalopram
- Volunteers
- 1 people
- Sponsor
- University of Colorado, Denver
Analgesia
A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations
A study investigating the pharmacokinetic profiles of four extended release paracetamol formulations
- Trial name
- NCT01568749
- Testing
- Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Gaucher Disease, Type 1
Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease
The purpose of this study is to evaluate the safety and efficacy of ISU302 in patients with Type 1 Gaucher disease.
- Trial name
- NCT02770625
- Testing
- ISU302
- Volunteers
- 8 people
- Sponsor
- ISU Abxis Co., Ltd.
Osteogenesis Imperfecta, Osteoporosis
REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)
This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free…
- Conditions
- Osteogenesis Imperfecta, Osteoporosis, Hypogonadisms, Neoplasia
- Trial name
- NCT07412782
- Testing
- REMS
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Meyer Children's Hospital IRCCS
Cardiovascular Diseases, Cerebrovascular Accident
Homocyst(e)Ine, Vitamin Status, and CVD Risk
To test the hypotheses that the risk of myocardial infarction and/or stroke is associated with elevated plasma levels of homocysteine, and low plasma levels of folate, vitamins B12 and B6.
- Conditions
- Cardiovascular Diseases, Cerebrovascular Accident, Coronary Disease, Myocardial Infarction
- Trial name
- NCT00005482
- Sponsor
- University of Washington
Urea Cycle Disorder, Inborn Errors of Metabolism
A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD
Original study: Study aims to enroll 3-5 children with confirmed Urinary Cycle Disorder (UCD). Subjects meeting the inclusion and exclusion criteria are included during the baseline visit.
- Trial name
- NCT03911089
- Testing
- UCD Anamix Infant
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Nutricia Research
Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD)
Natural History Study of Children With Metachromatic Leukodystrophy
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases
- Trial name
- NCT01963650
- Where
- 14 sites in United States, Argentina and 8 more
- Volunteers
- 1 people
- Sponsor
- Shire
Neurodegenerative Diseases, Parkinson Disease
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal…
- Conditions
- Neurodegenerative Diseases, Parkinson Disease, Synucleinopathies, Lewy Body Disease
- Trial name
- MARKERS-NDD (NCT06596746)
- Testing
- Observation
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- Casa di Cura San Raffaele Cassino
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Alzheimer's Disease, Amyotrophic Lateral Sclerosis
Laughter Therapy Effects on Mood, Stress and Self-efficacy in People With Neurological Diseases.
This is a prospective investigation of the effects of Laughter therapy (LT) on perceived stress, self-efficacy, mood and other wellness measures in people with the following neurological conditions: Alzheimer's disease…
- Conditions
- Alzheimer's Disease, Amyotrophic Lateral Sclerosis, Brain Injury, Huntington's Disease
- Trial name
- NCT02750982
- Testing
- Laughter Therapy
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Brown, Theodore R., M.D., MPH
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Friedreich Ataxia
TCA Cycle in the Dentate in Friedreich's Ataxia
OBJECTIVE: To measure the tricarboxylic acid (TCA) cycle rate in the dentate nucleus in a group of control subjects and subjects with Friedreich's Ataxia (FRDA).
- Trial name
- NCT03122925
- Testing
- MR
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Late-onset Pompe Disease
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
This is a Phase 1, multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL952 in adult participants with late-onset Pompe disease.
- Trial name
- NCT07354724
- Testing
- DNL952
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Denali Therapeutics Inc.
Cerebral Palsy (CP)
Go For It: to Improve Levels of Daily Physical Activity and to Reduce the Sedentary Life Style of Adolescents With CP
Long hours of daily sitting and lack of Physical Activity (PA) are risk factors for morbidity and mortality. People with movement disabilities, including adolescents with Cerebral Palsy (CP) tend to lead a sedentary life styl and…
- Trial name
- NCT02978469
- Testing
- Life style changing: reducing sedentary behavior
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
Cerebrovascular Accident
Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients
More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years.
- Trial name
- sifap1 (NCT00414583)
- Testing
- No intervention
- Where
- 45 sites in Austria, Belgium and 12 more
- Volunteers
- 5,000 people
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
- Trial name
- NCT04804566
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Amicus Therapeutics
Menkes Disease
Long Term Follow-up on Menkes Disease Patients
This study will collect long term follow-up data regarding overall survival and neurological parameters from patients previously identified and/or enrolled in Protocols 09-CH-0059 and 90-CH0149 and Historical Control data on…
- Trial name
- NCT04337684
- Testing
- Long Term Follow-Up
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sentynl Therapeutics, Inc.
Developmental Disability, Chronic Disease
QoL and Stress in Parents of Children With Developmental Disabilities and Chronic Disease
The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder…
- Conditions
- Developmental Disability, Chronic Disease, Down Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03602378
- Testing
- salivary cortisol, Holter Medilog AR12 Plus, Polar V800
- Where
- 2 sites in Croatia
- Volunteers
- 592 people, healthy volunteers welcome
- Sponsor
- University of Split, School of Medicine
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