Clinical Research
Investigators from the Rare Disorders Research Consortium serve as principal investigators and co-investigators for a wide variety of research studies. Select studies for our investigators are listed below.
- Blood and genetics data bank (Allison Gregory, Lynn Sakai)
- Cell repository and genetic data bank (Allison Gregory, Susan Hayflick)
- Cholesterol synthesis and defects in cholesterol synthesis in mevalonate kinase deficiency (Robert Steiner)
- Dietary cholesterol and defects in cholesterol synthesis in mevalonate kinase deficiency (Robert Steiner)
- Dietary cholesterol and defects in cholesterol synthesis in SLOS (Robert Steiner)
- GenTac: The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Related Cardiovascular Conditions (Jessica Kushner, Cheryl Maslen)
- Huntington disease research repository (Allison Gregory, Penny Hogarth)
- International collaborative Gaucher group (ICGG) registry (Robert Steiner)
- MILES trial: Multicenter International Lymhangioleiomyomatosis Efficacy of Sirolimus Trial (Alan Barker)
- National Down syndrome heart defects project (Cheryl Maslen)
- National Ophthalmic Genotyping Network: eyeGene (Allison Gregory, Susan Hayflick)
- Neuropsycholgical abilities in children with phenylketonuria (Robert Steiner)
- Neuropsychological function in children and adults with phenylketonuria (Robert Steiner)
- Oral Miglustat in adult patients with stable type 1 Gaucher disease (Robert Steiner)
- A Phase I Study of the Safety and Preliminary Effectiveness of Human CNS Stem Cells in Patients with the Infantile or Late Infantile Form of Batten Disease (Robert Steiner)
- A phase 1 study of the safety & prelim effectiveness of human CNS stem cells in patients with neuronal ceroid lipofuscinosis caused by palmitoyl protein thioesterase 1 or tripeptidyl peptidase 1 deficiency (Robert Steiner)
- Pompe registry (Robert Steiner)
- Prefrontally mediated memory in phenylketonuria (Robert Steiner)
- Quantum-1: Quantitative chest computed tomography unmasking emphysema progression in alpha-1 antitrypsin deficiency (Alan Barker)
- A randomized double-blind, placebo-controlled, multicenter, parallel group study of one-year duration followed by 2 years of open-label treatment to determine the safety and efficacy of orally administered 2.5 mg or 5.0 mg daily risedronate, in children with osteogenesis imperfecta (Robert Steiner)
- Rare lung disease consortium (Alan Barker)
- Study of the safety and preliminary effectiveness of human central nervous system stem cells in patients with infantile or late infantile neuronal ceroid lipofuscinosis (Robert Steiner)
- Study of Teriparatide (FORTEO) to treat adults with osteogenesis imperfecta (Robert Steiner)
