Clinical trials: Brain Diseases, Metabolic, Inborn
Cerebrovascular Accident, Fabry Disease
Vasodilation in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme alpha-galactosidase A. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Conditions
- Cerebrovascular Accident, Fabry Disease, Healthy
- Trial name
- NCT00001774
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy
The purpose of this study was to understand the epidemiological status of Fabry in patients with hypertrophic cardiomyopathy or left ventricular hypertrophy through multi-center early identification of high-risk patients in…
- Conditions
- Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy, Fabry Disease
- Trial name
- SEARCH (NCT06169358)
- Where
- China
- Volunteers
- 627 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Fabry Disease
Neuropathic Pain and Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other…
- Trial name
- NCT00168974
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Danish Pain Research Center
Encephalopathy, HIV Infections
A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease.
To determine the safety and CSF penetration of combined ganciclovir and foscarnet treatment for presumed cytomegalovirus encephalitis or radiculomyelopathy.
- Conditions
- Encephalopathy, HIV Infections, Radiculitis
- Trial name
- NCT00000856
- Testing
- Foscarnet sodium, Ganciclovir
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Pompe Disease
VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease
This Phase I/II open-label, randomized, dose-escalation study will assess the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary efficacy of VAL-1221 versus Myozyme®/Lumizyme® in participants with…
- Trial name
- NCT02898753
- Testing
- VAL-1221, RhGAA
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Valerion Therapeutics, LLC
Pompe's Disease
Prevalence of Pompe's Disease in Respiratory Clinics
Pompe's disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night.
- Trial name
- PURF (NCT02527239)
- Testing
- Prospective observational study
- Volunteers
- 400 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Attention Deficit Disorder With Hyperactivity, Asthma
Study of an Intervention to Improve Problem List Accuracy and Use
The aim of this study is to identify patients with problem list gaps and intervene to correct these gaps by creating clinical decision support interventions that alert providers to likely problem list gaps and offer clinicians…
- Conditions
- Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer
- Trial name
- MAPLE (NCT01105923)
- Testing
- MAPLE
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- Brigham and Women's Hospital
Gaucher Disease
A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease
The purpose of this study was to evaluate the safety, tolerability, efficacy, immunogenicity, PD and PK characteristics of LY-M001 injection in children with GD1 aged 6 years ≤ age < 18 years.
- Trial name
- NCT06528080
- Testing
- LY-M001
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurologic Disorder, Stroke
Home Based Tele-exercise for People With Chronic Neurological Impairments
To assess the impact of a 12-week virtual seated physical intervention on cardiovascular health and wellness in people with chronic neurological impairments (CNI).
- Conditions
- Neurologic Disorder, Stroke, Spinal Cord Injuries, Cerebral Palsy
- Trial name
- Telex (NCT04564495)
- Testing
- Seated exercise
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Burke Medical Research Institute
Friedreich Ataxia
A Study to Learn About the Effects and Safety of RTA 408 (Omaveloxolone) in People Aged 16 to 40 With Friedreich's Ataxia
In this study, researchers are learning more about RTA 408, also known as omaveloxolone, BIIB141, or SKYCLARYS®. The main goal of this study is to learn more about the safety of RTA 408 and how it affects physical effort…
- Trial name
- NCT02255435
- Testing
- Omaveloxolone Capsules, 2.5 mg, Omaveloxolone Capsules, 5 mg, Omaveloxolone Capsules, 10 mg
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 172 people
- Sponsor
- Biogen
Down Syndrome, Alzheimer's Disease
Glucose Metabolic, Amyloid, and Tau Brain Imaging in Down Syndrome and Dementia
The purpose of this study is to develop small molecule radio-labeled probes of beta-amyloid, to be used with positron emission tomography (PET) for early detection and treatment monitoring of Alzheimer disease (AD).
- Trial name
- NCT00966017
- Where
- United States
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Pompe Disease
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy
Funding Source- FDA OOPD The purpose of this study is to investigate the safety and efficacy of clenbuterol on motor function in individuals with late-onset Pompe disease (LOPD) who are treated with enzyme replacement therapy…
- Trial name
- NCT01942590
- Testing
- Clenbuterol
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Dwight Koeberl, M.D., Ph.D.
Fabry Disease
Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease
This is a Phase II, open-label study designed to evaluate the safety, tolerability, PK, PD, and preliminary efficacy of AL01211 in male subjects with classic Fabry disease who have never received any treatment (eg.
- Trial name
- NCT06114329
- Testing
- AL01211
- Where
- 6 sites in China
- Volunteers
- 16 people
- Sponsor
- AceLink Therapeutics, Inc.
Pompe Disease
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes…
- Trial name
- Pompe_HrQol (NCT04724213)
- Testing
- Testing of reliability / validity of new questionnaire
- Where
- Switzerland
- Volunteers
- 101 people
- Sponsor
- University Children's Hospital, Zurich
Pompe Disease
Response to Diaphragmatic Pacing in Subjects With Pompe Disease
The purpose of this study is to determine the effect of diaphragm pacing on respiratory function in subjects with Pompe disease by evaluating the duration and pattern of spontaneous respiratory function versus paced ventilation…
- Trial name
- NCT02354651
- Testing
- Diaphragm conditioning via phrenic nerve stimulation
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
GM2 Gangliosidosis, Supportive Care
Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
GM2 gangliosidosis is an autosomal recessive subtype of Lysosomal Storage Diseases in which, Hexosaminidase A-B deficiency is caused by HEXA-B gene.
- Trial name
- EMTISTD (NCT03822013)
- Testing
- Miglustat
- Where
- 3 sites in Iran
- Volunteers
- 30 people
- Sponsor
- Tehran University of Medical Sciences
Gaucher Disease
A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Primary Objective: To study the effect of mild, moderate, and severe renal impairment on the pharmacokinetics (PK) of eliglustat.
- Trial name
- NCT02536937
- Testing
- eliglustat
- Where
- 3 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Sanofi
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics