Clinical trials: Brain Diseases, Metabolic, Inborn
Maternal Phenylketonuria
Evaluation of PKU Sphere in Maternal PKU
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing…
- Trial name
- Maternal PKU (NCT04224142)
- Testing
- PKU sphere
- Where
- 3 sites in United Kingdom
- Volunteers
- 12 people
- Sponsor
- Vitaflo International, Ltd
Ataxia Telangiectasia
N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T).
- Trial name
- NCT03759678
- Testing
- IB1001
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 17 people
- Sponsor
- IntraBio Inc
Glycogen Storage Disease Type II
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment.
- Trial name
- NCT04848779
- Testing
- Alglucosidase alfa GZ419829
- Where
- 15 sites in United States, Belgium and 7 more
- Volunteers
- 16 people
- Sponsor
- Sanofi
Maple Syrup Urine Disease
Liquid Valine and Isoleucine in Maple Syrup Urine Disease
This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new…
- Trial name
- NCT06581991
- Testing
- Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)
- Volunteers
- 5 people
- Sponsor
- Meta Healthcare Ltd
Lysosomal Storage Disease, Metachromatic Leukodystrophy
Gene Therapy for Metachromatic Leukodystrophy (MLD)
This Phase I/II clinical trial consists of the application of lentiviral vector-based gene therapy to patients affected by Metachromatic Leukodystrophy (MLD), a rare inherited Lysosomal Storage Disorder (LSD) resulting from…
- Trial name
- NCT01560182
- Testing
- OTL-200 Gene Therapy
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Orchard Therapeutics
Amyloid, Cardiac Amyloidosis
[18F]FT8 PET Imaging in Immunoglobulin Light Chain Amyloidosis
[18F]FT8, a derivative of 1-(4-pyridyl)-4-piperazinyl arene ([18F]TPZA), exhibits high affinity for AL amyloid in myocardial tissue sections and shows no significant binding to transthyretin amyloid.
- Conditions
- Amyloid, Cardiac Amyloidosis, Amyloidosis, Healthy Subjects
- Trial name
- NCT07232459
- Testing
- [18F]FT8
- Where
- 3 sites in China
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Tianjin Medical University
Gaucher Disease
Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients
Absorption of therapeutic proteins taken orally has remained the major hurdle for treatment in humans. The proteins are generally degraded by enzymes in the stomach and intestine and the intestine lining that prevents absorption…
- Trial name
- NCT01747980
- Testing
- PRX-112
- Where
- 2 sites in Israel
- Volunteers
- 16 people
- Sponsor
- Protalix
Parkinson Disease, Gaucher Disease
Drug Discovery for Parkinson's With Mutations in the GBA Gene
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Parkinson's disease research and drug development by using cells from the body (such as skin or blood cells) to make stem…
- Conditions
- Parkinson Disease, Gaucher Disease, Healthy, GBA Gene Mutation
- Trial name
- NCT05536388
- Testing
- Biological Sample Collection
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- New York Stem Cell Foundation Research Institute
Hepatocellular Carcinoma (HCC)
Triple Recipient Strategy Using Split, Domino, and Auxiliary Techniques
The investigators report a case of the simultaneous use of split liver transplantation (SLT), domino liver transplantation (DLT) and auxiliary liver transplantation (ALT) to achieve "one donor for three recipients".
- Trial name
- NCT06683820
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Wilson Disease, Wilson's Disease
A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD)
The purpose of this study is to evaluate the safety, tolerability, biological activity, and initial efficacy of PM577a, an investigational Prime Editing therapy, in adults and adolescents with Wilson disease (WD).
- Conditions
- Wilson Disease, Wilson's Disease, Wilsons Disease
- Trial name
- PM577a (NCT07748403)
- Testing
- PM577a
- Where
- 4 sites in United States, New Zealand
- Volunteers
- 42 people
- Sponsor
- Prime Medicine, Inc.
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Hereditary Tyrosinemia, Type I
Taste and Palatability of Orfadin Suspension
The purpose of this study is to verify that pediatric patients, especially those who are not old enough to swallow capsules, accept the taste and palatability of a new suspension.
- Trial name
- NCT01734889
- Testing
- Nitisinone
- Where
- 7 sites in France, Germany and 1 more
- Volunteers
- 18 people
- Sponsor
- Swedish Orphan Biovitrum
Alexander Disease
Zilganersen Expanded Access Program for Individuals With Alexander Disease
The purpose of the expanded access program (EAP) is to provide access to zilganersen for eligible individuals with Alexander disease (AxD).
- Trial name
- NCT07487389
- Testing
- zilganersen
- Sponsor
- Ionis Pharmaceuticals, Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Mitochondrial Diseases, Mitochondrial Myopathies
Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS
- Trial name
- NCT06051448
- Testing
- Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Children's Hospital of Philadelphia
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)
Multiple Sclerosis, Optic Neuritis, Demyelinating Disease
Visual (Path)Ways in Multiple Sclerosis - Part II
Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated.
- Trial name
- VWIMS - II (NCT06776224)
- Testing
- Measurement of retinal vascular density and visual cognition
- Where
- France
- Volunteers
- 64 people
- Sponsor
- University Hospital, Lille
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
Neuromuscular Diseases (NMD), ALS (Amyotrophic Lateral Sclerosis)
Invasive Home Ventilation in Denmark
The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark.
- Conditions
- Neuromuscular Diseases (NMD), ALS (Amyotrophic Lateral Sclerosis), Spinal Cord Injuries (SCI), Duchenne Muscular Dystrophy (DMD)
- Trial name
- HOMEVENT DK (NCT07467187)
- Where
- Denmark
- Volunteers
- 450 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Metachromatic Leukodystrophy
Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)
A subject was treated under compassionate use provisions under this study with facilitating cell therapy (FCRx) product manufactured using the CliniMACS (Miltenyi Biotec) device, rather than the Max Sep (Baxter) device.
- Trial name
- NCT02084121
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
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