Clinical trials: Brain Diseases, Metabolic, Inborn
Phenylketonurias
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
The primary objective of this study is to evaluate the efficacy of Phenoptin™ (sapropterin dihydrochloride) in reducing blood phenylalanine (Phe) levels in subjects with phenylketonuria.
- Trial name
- NCT00104247
- Testing
- sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
- Where
- 13 sites in United States
- Volunteers
- 89 people
- Sponsor
- BioMarin Pharmaceutical
Fabry Disease
Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease
Fabry Disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene which translates into decreased activity or lack of function of the enzyme alpha-galactosidase A (α-GAL A) and…
- Trial name
- NCT03228940
- Testing
- RVX000222
- Where
- Canada
- Sponsor
- Resverlogix Corp
Lowe Syndrome
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males).
- Trial name
- NCT00359515
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Citrullinemia
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily.
- Trial name
- NOASSD (NCT01610089)
- Testing
- stable isotope infusion
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
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
Gaucher Disease
Clinical Audit of Managment of Gausher Disease in Children
clinical audit on managment of gausher disease in children
- Trial name
- NCT03590548
- Testing
- gausher disease
- Volunteers
- 1 people
- Sponsor
- Yasmeen Abd Elbaset Hamzaa
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher Disease
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)
The primary objective of this study was to evaluate the efficacy and safety of once daily (QD) versus twice daily (BID) dosing of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had demonstrated…
- Trial name
- NCT01074944
- Testing
- Eliglustat tartrate
- Where
- 46 sites in United States, Australia and 15 more
- Volunteers
- 170 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
A Co-designed Physical Activity Intervention in Fabry Disease
Currently, treatments for Fabry disease are pharmacological and predominantly focus on the physical symptoms of the disease. In the general population and individuals with disabilities, increasing physical activity levels and…
- Trial name
- NCT06257901
- Testing
- Interviews/Focus groups/Participatory workshops
- Where
- United Kingdom
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Brunel University
Peroxisome Biogenesis Disorders
Betaine and Peroxisome Biogenesis Disorders
The PBD are a rare group of inherited disorders due to the failure to form functional cellular peroxisomes. Most patients have progressive hearing and visual loss, leading to deafness and blindness, as well as neurological…
- Trial name
- NCT01838941
- Testing
- Betaine
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Ataxia Telangiectasia in Children, Ataxia Telangiectasia
Home-based Complex Intervention for Children With Ataxia Telangiectasia
Ataxia telangiectasia is a rare, genetic and progressive condition with no known cure. Therapies present a mainstream management option and have the potential to offer optimisation of fitness and general health.
- Trial name
- NCT05692622
- Testing
- Whole-body exercise and respiratory exercise
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Plymouth
Fabry Disease
Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan
This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female…
- Trial name
- NCT06052800
- Where
- 5 sites in Taiwan
- Volunteers
- 78 people
- Sponsor
- Sanofi
Phenylketonuria (PKU)
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU.
- Trial name
- FreqPHEncy (NCT07825883)
- Testing
- DBS Phe monitoring once weekly, DBS Phe monitoring once monthly
- Where
- Poland
- Volunteers
- 36 people
- Sponsor
- Michał Kania
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Urea Cycle Disorders, Inborn, Other Metabolic Diseases
Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Montmorillonite (MONT) is a phyllosilicate layered mineral with unique physicochemical properties, such as swelling and cation exchange capability.
- Trial name
- NCT02124330
- Testing
- montmorillonite 5 g, montmorillonite 3 g, Montmorillonite 1 g
- Where
- Italy
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Luca Ronfani
Coronary Artery Disease
Serial OCT Evaluation of Tissue Coverage in Patients Submitted to Inspiron Drug Eluting Stent Implantation
Prospective, multicentric, single-arm study to evaluate fast and effective tissue repair in patients undergone percutaneous coronary intervention with drug eluting stent Inspiron.
- Trial name
- REPAIR (NCT03269461)
- Testing
- Angiography and Optical Coherence Tomography evaluations
- Where
- 5 sites in Brazil
- Volunteers
- 60 people
- Sponsor
- Scitech Produtos Medicos SA
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
Friedreich Ataxia, Healthy Volunteers
Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers
To examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia…
- Trial name
- NCT05028764
- Testing
- Buccal Swabs, Blood Draws and Skin Punch Biopsy
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Larimar Therapeutics, Inc.
Friedreich Ataxia
A Study to Assess Nomlabofusp in Adolescents and Children With Friedreich's Ataxia
The goal of this clinical trial is to evaluate the safety and tolerability of nomlabofusp (CTI-1601) in adolescents and children with Friedreich's ataxia (FRDA).
- Trial name
- NCT06681766
- Testing
- Nomlabofusp
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Larimar Therapeutics, Inc.
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.