Clinical Trials
- Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
- Evaluation of Patients With Unresolved Chromosome Abnormalities
- Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
- Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
- Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
- Microcephaly Genetic Deficiency in Neural Progenitors
- Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
- The FBRI VTC Neuromotor Research Clinic
- Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
- Zika and Microcephaly: Case-control Study
- A Study of Bezafibrate in Mitochondrial Myopathy
- Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity During the COVID19 Pandemic
- An Intermediate Size Expanded Access Protocol of Elamipretide
- Anesthesia in Patients With Mitochondrial Disease
- Anesthetic Effects in Mitochondrial Disease
- Applying pGz in Mitochondrial Disease
- Calf Muscle Strength in Mitochondrial Diseases
- Clinical Study of Extra-virgin Olive Oil in Mitochondrial Diseases
- Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy
- Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
- Diagnostic Odyssey Survey 2
- DINAMITE Study Nutritional State and Effect Diet in Mitochondrial Disease
- DNA QUANTIFICATION TECHNIQUE AS A INTERPRETATION TOOL IN MITOCHONDRIAL DISEASES
- Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
- Drug-drug Interaction Study of KL1333 in Healthy Subjects
- Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
- EPI-743 for Metabolism or Mitochondrial Disorders
- Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies
- Gastrointestinal Dysfunction in Children Affected With Mitochondrial Disorders
- GDF-15 as a Biomarker for Mitochondrial Disease
- Glycemic Index in Mitochondrial Disease
- Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
- Identification of New Candidate Genes in Patients With Mitochondrial Disease by High Resolution Chromosome Analysis on DNA Chip
- Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
- Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
- Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
- Mechanisms of Mitochondrial Defects in Gulf War Syndrome
- Mitochondria and Chronic Kidney Disease
- Mitochondria in HIV and Aging (MITO+)
- Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
- Mitochondrial Cocktail for Gulf War Illness
- Mitochondrial Disease and Dysfunction in Neurological and Neurodevelopmental Disorders
- Mitochondrial Donation: An 18 Month Outcome Study.
- Mitochondrial Dysfunction in Autism Spectrum Disorder
- MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases
- Muscle OXPHOS and Nutrient Homeostasis
- Peripheral Vascular REactivity and Muscular Oxygenation in Diabetes Mellitus
- Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
- Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurometabolic and Neurodevelopmental Disorders in Children
- RG2133 (2′,3′,5′-Tri-O-Acetyluridine) in Mitochondrial Disease
- Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
- Survey on Supplement Use in Mitochondrial Disease
- The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases
- The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
- Validation of Oxygen Nanosensor in Mitochondrial Myopathy
- A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
- Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
- Comparison of Chemical Peeling Agent With Transamine for Treatment of Melasma
- Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
- Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
- Ketones & Mitochondrial Heteroplasmy
- L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome
- Nitric Oxide Production in MELAS Syndrome
- Phase 2a Study of IW-6463 in Adults Diagnosed With MELAS
- Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
- Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
- Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes
- Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
- The KHENERGYC Study
- The KHENERGYZE Study
- Tissue Sample Study for Mitochondrial Disorders
- 10 Years Follow-up Study of Plantar Pressure, Kinetics and Kinematics in a Cohort of Patients Diagnosed With Diabetes
- Evaluations of Cardiopulmonary Function and Motor Development of Congenital Heart Disease
- Short-term Evaluation of Motor and Sensory Function in Post-COVID-19 Patients
- Stroke Recovery Research Based on EEG-fMRI
- Direct Bypass Versus Indirect Bypass in Treatment of Adults Hemorrhagic Moyamoya Disease
- Effect of Recombinant Human EPO on the Postoperative Neurologic Outcome in Pediatric Moyamoya Patients
- Effect of Surgical Revascularization on Hemorrhagic Moyamoya Disease
- Effects of Remote Ischemic Pre-Conditioning in Moyamoya Disease Patients
- Effects of Remote Ischemic Preconditioning With Postconditioning on Neurologic Outcome
- Efficacy and Safety of rTMS for Cognitive Rehabilitation in Moyamoya Disease
- Florida Cerebrovascular Disease Biorepository and Genomics Center
- Functional Disorders Moya Moya Young Patients
- Gut Microbiota in Patients With Moyamoya Disease
- Long-term Outcomes of Conservative Management in Patients With Moyamoya Disease and Their First-degree Relatives (LAMORA)
- Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke
- Multiple Burrhole Therapy With Erythropoietin for Unstable Moyamoya
- NBP in Patients With Moyamoya Disease of High Risk for Ischemic Cerebrovascular Events
- Neurocognitive and Radiological Assessments in Adult Moyamoya Undergoing Surgery
- Precision Bypass in Patients With Moyamoya Disease
- Predicative Value of Multimodal MRI in Moyamoya Disease
- Quantifying Collateral Perfusion in Cerebrovascular Disease-Moyamoya Disease and Stroke Patients
- Relationship Between Endothelial Progenitor Cells and Revascularization Effect of Moyamoya Disease
- Safety and Efficacy of Remote Ischemic Conditioning Combined EDAS on Ischemic Moyamoya Disease
- Safety and Efficacy of RIC in Pediatric Moyamoya Disease Patients Treated With Revascularization Therapy
- Sevoflurane and Hyperperfusion Syndrome
- Super-resolution Clinical Brain Ultrasound
- The Effect of RIC on TIA/Stroke in Children With Moyamoya Disease
- The Evolution and Prognosis of Moyamoya Disease
- The Role of m6A RNA Modification in Moyamoya Disease
- The Safety and Efficacy of RIC on Adult Moyamoya Disease
- A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease
- A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
- A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old
- A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients
- A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I
- A Study of JR-171 in Patients With Mucopolysaccharidosis I
- A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
- An Extension Study of JR-171-101 Study in Patients With MPS I
- Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I
- Biomarker for Hurler Disease (BioHurler)
- China Post-marketing Surveillance (PMS) Study of Aldurazyme®
- Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I
- Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
- Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I
- Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181
- Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I
- Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I
- Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
- Immune Tolerance Study With Aldurazyme® (Laronidase)
- Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
- ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I
- Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome
- Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
- MRS to Determine Neuroinflammation and Oxidative Stress in MPS I
- MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablasts for Hurler Syndrome Post Allo HSCT
- Mucopolysaccharidosis I (MPS I) Registry
- Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
- RGX-111 Gene Therapy in Patients With MPS I
- Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I
- Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I
- Safety and Efficacy of Encapsulated Allogeneic MPS-1 Therapy
- Stem Cell Transplant w/Laronidase for Hurler
- Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
- Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II
- The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan
- A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
- A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
- A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA
- BMN 110 US Expanded Access Program
- Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
- Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation
- Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
- Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)
- A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
- A Study in MPS VI to Assess Safety and Efficacy of Odiparcil
- Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
- Clinical Trial of Growth Hormone in MPS I, II, and VI
- Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
- Gene Therapy in Patients With Mucopolysaccharidosis Disease
- Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
- Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome
- Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02
- Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI
- Stem Cell Transplantation for Hurler
- Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI
- Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI
- Study of rhASB in Patients With Mucopolysaccharidosis VI