Genetics and Genomics | Clinical Studies

Below is a sampling of clinical trials and clinical research protocols from the Genetics & Genomics Research program and the Clinical Genetics program. For recent research findings, see our highlighted abstracts presented at the American Society of Human Genetics (ASHG) meeting.

Angelman syndrome

• Levodopa for Angelman syndrome
• Characterization of Angelman syndrome
• See more at ClinicalTrials.gov and on our science blog, Vector.

Autism

• SynapDx Autism Gene Expression Analysis Study (STORY)
• SynapDx Autism Gene Expression Analysis Study (SAGA)

Cockayne syndrome

• Pharmacokinetics and Safety Study of Single and Multiple Oral Doses of Prodarsan™ (Edward Neilan, MD, PhD) 

Congenital heart disease

(see also Noonan syndrome)

• Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) (Amy Roberts, MD)
• Boston Children's Hospital Cardiac Gene Project (Amy Roberts, MD)
• See more on the Cardiovascular Genetics Program site. 

Congenital myopathies

• Molecular and Genetic Studies of Congenital Myopathies
• A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Fragile X syndrome

• Efficacy, safety and tolerability of STX209 (Arbaclofen) for treatment of irritability in Fragile X syndrome (Jonathan Picker, MBChB, PhD)
• See more at ClinicalTrials.gov and on the Fragile X Program page.

Lysosomal storage disorders

• Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase in Mucopolysaccharidosis II [Hunter syndrome) (Edward Neilan, MD, PhD)

Metabolic disorders

• Induced pluripotent stem cell research for galactosemia (More in this video) (Gerard Berry, MD)
• Better diagnostic testing for newborns with galactosemia (Gerard Berry, MD)
• Long-term Outcome of N-Carbamylglutamate Treatment (CarbaGlu) in Propionic Acidemia and Methylmalonic Acidemia (Gerard Berry, MD)
• Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia (Gerard Berry, MD)
• An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) (Gerard Berry, MD)
• An Open-Label Phase 3 Study of BMN 165 for Adults With Phenylketonuria (PKU) (Harvey Levy, MD)
• Longitudinal Study of Urea Cycle Disorders (Harvey Levy, MD)
• See more on the Metabolism Program page.

Neurofibromatosis

• Visit the Neurofibromatosis Program’s page and ClinicalTrials.gov for a list of trials.

Noonan syndrome

• Genotype/Phenotype Correlation Study for Noonan Syndrome and related phenotypes (Coordinator: Erica Tworog-Dube, M.S., G.C., 617-525-4490)