Medical Genetics Research

Amish & Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

Arginase 1 Deficiency Treatment with Pegzilarginase: The PEACE Study – Phase II

PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency

Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

Fabry Disease Treatment Using 4D-310 Gene Therapy – Phase I/II

Trial of Gene Therapy 4D-310 in Adult Males with Classic Fabry Disease

Fabry Disease Treatment Using AVR-RD-01 Gene Therapy: The FAB-GT Study – Phase I/II

Study of the Efficacy and Safety of Ex Vivo, Lentiviral Vector-mediated Gene Therapy AVR-RD-01 for Treatment-Naïve Subjects with Classic 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 and Effects of Taliglucerase Alfa – Phase IV

Study of Elelyso™ (Taliglucerase Alfa) in Pediatric Subjects with Type 1 Gaucher Disease

Gaucher Disease Enzyme Replacement Therapy Registry

Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

Gaucher Disease Outcome Survey – The GOS Study

An Observational, International, Multi-center, Long-Term Registry of 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 & Mennonite Communities

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

Genome Sequencing of Infants in the ICU: The PISCES Study

Whole Genome Sequencing in the Intensive Care Unit Population

Genomic Medicine for Ill Neonates and Infants – The GEMINI Study

Hemorrhagic Telangiectasia & Vascular Malformations Registry

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository

Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

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

Methylmalonic Acidemia Treatment with hLB-001 Gene Therapy: The SUNRISE Trial – Phase I/II

Study of hLB-001 Gene Therapy in Pediatric Patients with Methylmalonic Acidemia Characterized by MMUT Mutations

Methylmalonic and Propionic Acidemias Natural History – The MaP Study

MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias

MPS II (Hunter Syndrome) Outcome Survey – The HOS Study

A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)

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 & 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 & Biorepository

Osteogenesis Imperfecta Treatment With BPS804 – Phase IV

Study in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated With BPS804

Phosphomannomutase Deficiency Natural History Study

Clinical and Basic Investigations into Phosphomannomutase Deficiency

PKU Health Monitoring Study

A Prospective Clinical Study of Phenylketonuria

PKU Registry

PKUDOS - PKU Demographics, Outcomes, and Safety Registry

PKU Response to Liver Cell Transplant as Measured by Phe Conversion

Whole Body Turnover Studies of 1-13C Phe in Patients with Phenylketonuria

PKU Treatment with HMI-102 Gene Therapy: The pheNIX Study – Phase I/II

Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects with PAH Deficiency

PKU Treatment with Radiation & Liver Cell Transplant – Phase I/II

Hepatocyte Transplantation for Phenylketonuria

PKU Treatment with SYNB1618 – Phase II

Study of the Efficacy and Safety of SYNB1618 in Subjects with Phenylketonuria

Propionic Acidemia Variant Among Amish/Mennonite – A Chart Review

Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia

Propionic Acidemia & Methylmalonic Acidemia Specimen Sampling Study

A Stool and Biological Specimen Sampling Study in Subjects with Propionic or Methylmalonic Acidemia

Propionic Acidemia Treatment with mRNA-3927 – Phase I/II

Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia

Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate – Phase III

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency

Urea Cycle Disorder Registry: The THRIVE Study

Long-Term Registry of Patients With Urea Cycle Disorders

Urea Cycle Disorder Treatment with KB195: The UNLOCKED Study – Phase II

Study to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care

Urea Cycle Disorder Treatment with Glycerol Phenylbutyrate & Sodium Phenylbutyrate – Phase IV

Study of the Safety, Pharmacokinetics and Ammonia Control of RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid and Sodium Phenylbutyrate in Phenylbutyrate Treatment Naïve Patients with Urea Cycle Disorders