BioMarin Pharmaceutical

NCT00214773

Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)

NCT00730080

Sapropterin in Individuals With Phenylketonuria

NCT00728676

Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors

NCT00778206

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

NCT00787995

A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)

NCT00688844

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

NCT00827762

Behavioral Effects of Kuvan in Children With Mild Phenylketonuria

NCT00852358

A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I

NCT00964236

The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)

NCT01016392

Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency

NCT01141595

Tetrahydrobiopterin Treatment in Children With Idiopathic Cognitive Developmental Disorders

NCT01209819

Bone Mineral Density in Adults With Hyperphenylalaninemia

NCT01274026

Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders

NCT01387854

Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02

NCT01541397

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

NCT01603095

A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia

NCT01733615

Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA

NCT01650909

The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU

NCT01752296

Psychological Concomitants of Morquio Syndrome (The MAP Study)

NCT01753804

A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.

NCT01707433

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

NCT01806051

A Pilot Study on Diurnal Variation

NCT01869972

Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

NCT02365376

Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions

NCT01920828

Gait Analysis in MPS IVA

NCT01924026

Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study

NCT01961518

Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome

NCT02208661

Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)

NCT02294877

A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)

NCT02191917

A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)

NCT02221362

A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease

NCT02353312

Rhode Island Diastolic Dysfunction - Heart Failure

NCT02354664

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

NCT02468570

A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302

NCT04368624

PKU Skin Stripping

NCT02583152

New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis

NCT02156674

Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome

NCT02597881

Achondroplasia Natural History Multicenter Clinical Study

NCT02153255

Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa

NCT03150069

Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?

NCT03864029

Retrospective Observational Safety Effectiveness With Kuvan in hpA

NCT03449368

Lifetime Impact of Achondroplasia Study in Europe-LIAISE

NCT03017677

A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis

NCT03204370

Natural History of Atypical Morquio A Disease

NCT03505125

A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults

NCT03862274

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

NCT03820804

Nutritional Status in Phenylketonuria

NCT03792451

Nutrition Status of Adults Treated With Pegvaliase

NCT03856203

Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase

NCT03872531

Lifetime Impact Study for Achondroplasia

NCT04404530

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

NCT04452513

A Prospective Clinical Study of Phenylketonuria (PKU)

NCT04055051

ATHN 11: Liver Transplantation Outcomes Study

NCT04476862

Cerliponase Alfa Observational Study in the US

NCT04560933

A Study to Evaluate Seroprevalence and Seroconversion of Antibodies to Adeno-Associated Virus (AAV) in Patients With Hemophilia A

NCT05368038

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NCT05356377

Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU

NCT05813678

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

NCT05579548

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

NCT05314751

Learning to Live With Non-severe Haemophilia

NCT05768386

A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)

NCT06168201

VIrtual STudy in Achondroplasia for the US (VISTA)

NCT05580692

A Prospective Study Evaluating Seroprevalence and Seroconversion of Antibodies Against Adeno-associated Virus (AAV)

NCT06212947

A Multicenter Multinational Observational Study of Children With Hypochondroplasia

NCT06305234

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

NCT06309979

A Study to Assess Growth in Children With Idiopathic Short Stature