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Your search for "Genetics" returned 36 results:


Genetic Testing to Understand and Address Renal Disease Disparities (GUARDD)
Principal Investigator(s): Erwin Bottinger

BioMe Biobank Program
Principal Investigator(s): Erwin B├Âttinger, MD

Survey Study of the Prevalence of Parkinson Disease in Patients and Families with Gaucher Disease
Principal Investigator(s): Manisha Balwani

Biomarkers of primary focal dystonias: structural-functional interactions
Principal Investigator(s): Kristina Simonyan

New Directions in the Genetics of Impulsivity and Aggression
Principal Investigator(s): Maria De Las Mercedes Perez-Rodriguez

A Randomized, Double-Blind, 12-week, Parallel Group, Placebo-Controlled Study of the Efficacy and Safety of RO4917523 in Patients with Fragile X Syndrome
Principal Investigator(s): Alexander Kolevzon

Natural History Study of Acute Hepatic Porphyria (AHP) with Recurrent Attacks
Principal Investigator(s): Manisha Balwani

Natural History and Treatment of Fabry Disease
Principal Investigator(s): Amy Yang

Building a Registry of Patients with Primary Immune Deficiency
Principal Investigator(s): Cunningham-Rundles, Charlotte

A Phase 1, Single-Ascending Dose, Multiple-Ascending Dose, and Multi-Dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered Aln-As1 in Patients with Acute Intermittent Porphyria (AIP)
Principal Investigator(s): Manisha Balwani

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Principal Investigator(s): George Diaz

Genomics of Chronic Renal Allograft Rejection
Principal Investigator(s): Murphy, Barbara M.D.

Clinical and Molecular Studies of the Erythropoietic Protoporphyria Phenotype
Principal Investigator(s): Manisha Balwani

Genetics Studies of Craniofacial and Limb
Principal Investigator(s): Jabs, Ethylin

Genetics & Neuroendocrinology of Short Stature
Principal Investigator(s): Rapaport, Robert

Multiscale Genomics of Acne
Principal Investigator(s): Joel Dudley

Genetic Markers Associated with Statin-Induced Myalgia and myopathy
Principal Investigator(s): Smith, Donald A MDMPH

Piloting Treatment with Insulin-Like Growth Factor-1 (IGF-1) in Phelan McDermid Syndrome
Principal Investigator(s): Alexander Kolevzon

A Phase 3 Randomized Double-Blind Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients with GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Principal Investigator(s): George Diaz

Inflammation, long-term diabetes characteristics, and cognitive decline
Principal Investigator(s): Schnaider-Beeri, Michal

An Open-Label, Multicenter, Ascending Dose Study Of The Tolerability And Safety Of Recombinant Human Acid Sphingomyelinase (rhASM) In Patients With Acid Sphingomyelinase Deficiency (ASMD)
Principal Investigator(s): Melissa Wasserstein, MD

Molecular & Enzymatic Inherited Metabolic Diseases
Principal Investigator(s): George Diaz

Clarification of Optimal Anticoagulation through Genetics (COAG)
Principal Investigator(s): Desnick, Robert J.

A Randomized, Double-blind, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Withdrawal in Children with Fragile X Syndrome
Principal Investigator(s): Alexander Kolevzon

Niemann-Pick Disease:Genotype/Phenotype Analysis
Principal Investigator(s): Melissa Wasserstein, MD

Bacterial Transmission In Utero and IBD Risk: The MECONIUM Study
Principal Investigator(s): Inga Peter

Natural History and Treatment of Gaucher Disease
Principal Investigator(s): Manisha Balwani

Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with PKU (BioMarin Pharmaceutical Inc. Protocol PAL-003)
Principal Investigator(s): Melissa Wasserstein, MD

A randomized, parallel-group, double-blind, placebo-controlled, safety and exploratory efficacy and pharmacokinetic study of R04917523 in pediatric patients with Fragile X Syndrome
Principal Investigator(s): Alexander Kolevzon

Porphyria Rare Disease Clinical Research Consortium (RDCRC)
Principal Investigator(s): Desnick, Robert J.

Premotor Signs and Symptoms of Parkinsonism in Non-Manifesting GBA Mutation Carriers
Principal Investigator(s): Manisha Balwani

Gaucher Registry
Principal Investigator(s): Manisha Balwani

RASopathy registry for individuals with a diagnosis of a RASopathy and hypertrophic cardiomyopathy
Principal Investigator(s): Bruce D. Gelb

The Congenital Heart Disease Genetic Network Study (CHD GENES)
Principal Investigator(s): Bruce D. Gelb

An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI®) in Pediatric Subjects under Two Years of Age with Urea Cycle Disorders (UCDs)
Principal Investigator(s): George Diaz

Genetics Studies of Moebius Syndrome
Principal Investigator(s): Jabs, Ethylin