Clinical trials: Brain Diseases, Metabolic, Inborn
Wilson's Disease
Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base…
- Trial name
- NCT06128954
- Testing
- 900mg TETA 4HCl Once Daily Formulation, 900mg TETA 4HCl Cuprior®
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Orphalan
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, PLS, Motor Neuron Disease
- Trial name
- NCT01459302
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Worcester
Lysosomal Storage Diseases, Metachromatic Leukodystrophy
OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human…
- Trial name
- NCT04283227
- Testing
- OTL-200
- Where
- Italy
- Volunteers
- 6 people
- Sponsor
- Orchard Therapeutics
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
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
Niemann-Pick Disease, Type C
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
A prospective, randomized, double-blind, placebo controlled therapeutic study in participants with confirmed diagnosis of Niemann-Pick disease type C (NPC).
- Trial name
- NCT02612129
- Testing
- arimoclomol
- Where
- 14 sites in United States, Denmark and 7 more
- Volunteers
- 50 people
- Sponsor
- ZevraDenmark
Wilson Disease
Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
This study is being conducted to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics of ALXN1840 versus standard of care in pediatric participants with Wilson disease (WD).
- Trial name
- NCT05047523
- Testing
- ALXN1840, Standard of Care
- Where
- 20 sites in Australia, France and 5 more
- Volunteers
- 40 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Pompe Disease
AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease
Open-label, ascending dose trial of ACTUS-101 administered intravenously.
- Trial name
- NCT03533673
- Testing
- ACTUS-101
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- AskBio Inc
Age-related Macular Degeneration
Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration
This study will determine whether quarterly injections of Ranibizumab may prevent eyes with dry age-related macular degeneration from progressing to wet age-related macular degeneration (AMD).
- Trial name
- PREVENT (NCT02140151)
- Testing
- Ranibizumab 0.5mg
- Where
- 4 sites in United States
- Volunteers
- 108 people
- Sponsor
- Southern California Desert Retina Consultants, MC
Gaucher Disease Type 1
A Gaucher Disease Gene Therapy Trial With FLT201
This study is a Phase 3, non-randomized, multicenter, efficacy and safety study in adult patients with Gaucher disease Type 1, on stable treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at…
- Trial name
- GALILEO-3 (NCT07223944)
- Testing
- FLT201
- Where
- 32 sites in United States, Argentina and 8 more
- Volunteers
- 45 people
- Sponsor
- Spur Therapeutics
Amyloid, Cardiac Amyloidosis
Pan-Amyloid PET/CT in Various Amyloid-Related Disease
To evaluate the potential usefulness of 18F-92/AV45/TPZA/FT8, 11C-PIB positron emission tomography/computed tomography (PET/CT) for the diagnosis of primary and metastatic lesions in various Pan-Amyloid-related disease patients.
- Conditions
- Amyloid, Cardiac Amyloidosis, Amyloidosis
- Trial name
- NCT07130565
- Testing
- 18F-92/AV45/TPZA/FT8, 11CPIB
- Where
- 3 sites in China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Tianjin Medical University
Phenylketonurias
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers
Children with phenylketonuria (PKU) are treated with a special diet supplemented with a synthetic protein based on amino acids. These have a poor taste and are inefficiently used by the body.
- Trial name
- NCT05971563
- Testing
- Casein, L-amino acids, CGMP-AA
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
Wilson Disease
rTMS in Wilson Disease Dysarthria
Wilson disease is a hereditary hepatic and neurological disease associated with copper accumulation. Neurological symptoms are of extra-pyramidal, cerebellar and dystonic origin.
- Trial name
- WILSTIM2 (NCT04910581)
- Testing
- rTMS
- Where
- 2 sites in France
- Volunteers
- 18 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
Fabry Disease
China Post-marketing Surveillance (PMS) Study of Fabrazyme®
This is a 54-week Phase 4, open label, single arm study to evaluate the safety and the efficacy of Fabrazyme (agalsidase beta) as enzyme replacement therapy (ERT) in Chinese participants with Fabry Disease.
- Trial name
- NCT05054387
- Testing
- Agalsidase beta
- Where
- 6 sites in China
- Volunteers
- 22 people
- Sponsor
- Genzyme, a Sanofi Company
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Rheumatoid Arthritis, Ankylosing Spondylitis
PatientSpot Formerly Known as ArthritisPower
Patient Power is a patient research network and database (registry) to collect prospective information about demographics, self-reported diagnoses and medications, and willingness to participate in research from participants with…
- Conditions
- Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout
- Trial name
- NCT03840928
- Where
- United States
- Volunteers
- 40,000 people, healthy volunteers welcome
- Sponsor
- Global Healthy Living Foundation
Hereditary Tyrosinemia, Type I
Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to compare the bioavailability of the Test Product, Nitisinone 10 mg Tablet, under fasting and fed conditions (food-effect).
- Trial name
- NCT02750332
- Testing
- Nitisinone
- Where
- South Africa
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Schizophrenia, Psychotic Disorders
Acute Glycine Pharmacodynamic Study
The purpose of this study is to use proton magnetic resonance spectroscopy (MRS) at 4 Tesla to measure brain glycine levels noninvasively at baseline and for 2 hours after a single oral dose of a concentrated glycine-containing…
- Trial name
- NCT01610011
- Testing
- Glycine administration
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Mclean Hospital
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