Medical Genetics Clinical Studies

Amish and Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

Energy Metabolism Disorder Therapy Using Triheptanoin (C7)

Dietary Therapy for Inherited Disorders of Energy Metabolism

Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

Fabry Disease Long-Term Treatment with Migalastat – Phase III

Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease

Fabry Disease Treatment with PRX102 compared to Agalsidase Beta: The BALANCE Study – Phase III

Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta

Gaucher Disease Enzyme Replacement Therapy Registry

Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

Genetic Disorder Discovery Through DNA Sequencing

Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

Genetic Disorder Identification in Amish and Mennonite Communities

Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

Hyperammonemia Treatment With Carbaglu - Phase II

Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

Krabbe Disease Progression Study

The Natural History of Infantile Globoid Cell Leukodystrophy

Long-Chain Fatty Acid Oxidation Disorder Therapy With Triheptanoin (C7) - Phase II

Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies

Lysosomal Disorders Registry

MELAS Disorder in NW Pennsylvania Amish Community

Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention

Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

Mitochondrial Myopathy Treatment With RTA 408: The MOTOR Study – Phase II

Study of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR)

MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/II

Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment

MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase II/III

Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment

MPS IVA (Morquio) Registry: The MARS Study

Morquio A Registry Study (MARS)

MPS VI (Maroteaux-Lamy Syndrome) Registry

Mucopolysaccharidosis Type VI Clinical Surveillance Program

Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

North American Mitochondrial Disease Consortium (NAMDC) Patient Registry and Biorepository

PKU Extended Treatment with rAvPAL-PEG – Phase II

Long-Term Extension of a Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with Phenylketonuria (PAL-003)

PKU Registry

PKUDOS - PKU Demographics, Outcomes, and Safety Registry

PKU Retrospective Review

Burden of PAH Deficiency/PKU Among Adults: A Retrospective Chart Review and Cross-sectional Patient Survey

PKU Treatment with BMN 165 (rAvPAL-PEG) – Phase III

Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered by Adults With Phenylketonuria

Primary Mitochondrial Disease Observational Study (SPIMM-300)

Prospective Observational Study of Patients with Primary Mitochondrial Disease

Primary Mitochondrial Disease Treatment with Elamipretide (SPIMM-203) – Phase II

Extension Trial to Characterize the Long-Term Safety and Tolerability of Subcutaneous Elamipretide in Subjects with Genetically Confirmed Primary Mitochondrial Disease

Sanfilippo B Syndrome Treatment with SBC-103 – Phase I/II

Study of Pediatric Patients with MPS IIIB to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

Sjögren-Larsson Syndrome Study

Sjögren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation, and Evaluation of Biochemical Markers

Urea Cycle Disorder Treatment With Ravicti® - Phase IV

Study of Glycerol Phenylbutyrate (GPB; Ravicti®) in Children Under 2 Years of Age with Urea Cycle Disorders

Urea Cycle Disorder Registry: The THRIVE Study

Long-Term Registry of Patients With Urea Cycle Disorders