Status | Study |
Recruiting |
Study Name: Pregnancy and Medically Assisted Conception in Rare Diseases Condition: Rheumatoid Arthritis Spondyloarthritis Psoriatic Arthritis Date: 2015-05-19 |
Recruiting |
Study Name: BBD Longitudinal Study of Osteogenesis Imperfecta Condition: Osteogenesis Imperfecta Date: 2015-04-29 |
Recruiting |
Study Name: Orodental Manifestations of Rare Diseases Condition: Rare Disease Orodontal Date: 2015-03-11 Interventions: Other: Salivary and blood samples |
Completed |
Study Name: Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions Condition: Rare Genetic Disorders Date: 2015-02-11 |
Recruiting |
Study Name: Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Condition: FTLD Progressive Supranuclear Palsy (PSP) Frontotemporal D Date: 2015-02-11 |
Enrolling by invitation |
Study Name: Natural History of Pearson Syndrome Condition: Pearson Syndrome Date: 2014-12-22 |
Recruiting |
Study Name: Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD Condition: Genetic Rare Disease Date: 2014-01-09 Interventions: Drug: Busulfan First dose: busulfan (120 mg/m2 ivs once daily) (if age<1 yr: 80 mg/ m2) Second to for |
Active, not recruiting |
Study Name: Health Needs of Patients With Kallmann Syndrome Condition: Kallmann Syndrome Congenital Hypogonadotropic Hypogonadism Date: 2013-07-31 |
Active, not recruiting |
Study Name: Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Condition: Erythropoietic Protoporphyria (EPP) Date: 2013-06-17 |
Active, not recruiting |
Study Name: Decision Support for Parents Receiving Information About Child's Rare Disease Condition: Disorder of Sex Development Intersex Conditions Congenital Date: 2013-05-30 Interventions: Behavioral: Decision Support Tool |