Clinical trials: Brain Diseases, Metabolic, Inborn
Pompe Disease (Late-onset)
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA).
- Trial name
- NCT06150820
- Testing
- No Intervention
- Where
- 53 sites in United States, Australia and 9 more
- Volunteers
- 119 people
- Sponsor
- Astellas Gene Therapies
Homocystinuria Due to CBS Deficiency
Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
- Trial name
- NCT02998710
- Where
- 11 sites in United States, Ireland and 2 more
- Volunteers
- 110 people
- Sponsor
- Travere Therapeutics, Inc.
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)
Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with…
- Trial name
- STIG (NCT02824068)
- Testing
- glucosidase alfa
- Where
- 3 sites in Germany, Italy and 1 more
- Volunteers
- 112 people
- Sponsor
- LMU Klinikum
OTC Deficiency, Ornithine Transcarbamylase Deficiency
A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.
- Conditions
- OTC Deficiency, Ornithine Transcarbamylase Deficiency, OTCD
- Trial name
- NCT06488313
- Testing
- ARCT-810
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Arcturus Therapeutics, Inc.
Gaucher's Disease
Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease
OBJECTIVES: I. Evaluate the efficacy and toxicity of glucocerebrosidase enzyme therapy in patients with Gaucher disease.
- Trial name
- NCT00004293
- Testing
- glucocerebrosidase
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- National Center for Research Resources (NCRR)
Pompe Disease
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease.
- Trial name
- DRMF (NCT02354664)
- Testing
- Thoracic MRI, Spirometry, Inspiratory Load Compensation
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Florida
Friedreich's Ataxia
An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as…
- Trial name
- NCT01921868
- Testing
- Acetyl-L-Carnitine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of South Florida
Generalized Epilepsy, Infantile Spasms
Metabolic Abnormalities in Children With Epilepsy
This study is designed to use positron emission tomography to measure brain energy use. Positron Emission Tomography (PET) is a technique used to investigate the functional activity of the brain.
- Conditions
- Generalized Epilepsy, Infantile Spasms, Metabolic Disease, Partial Epilepsy
- Trial name
- NCT00001325
- Testing
- 18 FDG
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Fabry's Disease, Chronic Pain
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection…
- Trial name
- DOUFABIS (NCT02450604)
- Testing
- Diagnosis of Fabry disease
- Where
- 21 sites in France
- Volunteers
- 776 people
- Sponsor
- University Hospital, Bordeaux
Retinitis Pigmentosa, Maculopathy, Age Related
High Resolution, High-speed Multimodal Ophthalmic Imaging
Knowledge of the pathogenesis of ocular conditions, a leading cause of blindness, has benefited greatly from recent advances in ophthalmic imaging.
- Conditions
- Retinitis Pigmentosa, Maculopathy, Age Related, Macular Dystrophy, Macular Edema
- Trial name
- IMA-MODE (NCT04129021)
- Testing
- High-resolution retinal imaging through adaptive optics, High-resolution retinal imaging through holographic systems
- Where
- France
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3
Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3
- Trial name
- NCT03746587
- Testing
- Arimoclomol
- Where
- 8 sites in India
- Volunteers
- 39 people
- Sponsor
- ZevraDenmark
Fabry Disease
A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease
The main aim of the study is to assess the safety of REPLAGAL. Study participants will receive REPLAGAL as an intravenous infusion every other week for 52 weeks.
- Trial name
- NCT04974749
- Testing
- REPLAGAL
- Where
- 6 sites in China
- Volunteers
- 20 people
- Sponsor
- Takeda
Phenylketonurias
Remote Neurocognitive and Psychological Assessment in PKU
PKU is a rare autosomal recessive condition associated with disruption in dopamine synthesis. Although early diagnosis and treatment prevent the severe impairments associated with untreated PKU, individuals with early-treated PKU…
- Trial name
- NCT04943393
- Testing
- nointervention
- Where
- 2 sites in United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Acute Noninfectious Posterior, Intermediate, or Pan Uveitis
Study of FTY720 in Patients With Uveitis
This study will assess the safety, tolerability, and efficacy of FTY720 in patients with acute, noninfectious intermediate, posterior and pan uveitis
- Trial name
- NCT01791192
- Testing
- FTY720, Oral Corticosteroid
- Sponsor
- Novartis Pharmaceuticals
Phenylketonuria
The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
The objective of the study is to determine whether Kuvan™ (sapropterin) improves the strength of the functional connectivity between brain regions in individuals with PKU.
- Trial name
- NCT00964236
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Pompe Disease
A Global Prospective Observational Registry of Patients With Pompe Disease
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD).
- Trial name
- NCT06121011
- Testing
- Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa
- Where
- 41 sites in United States, Austria and 10 more
- Volunteers
- 500 people
- Sponsor
- Amicus Therapeutics
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