| Phase 2 |
| NCT06664814 |
An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary… |
Focal Segmental Glomerulosclerosis |
Recruiting |
| NCT04316546 |
MK-7075 (Miransertib) in Proteus Syndrome |
Proteus Syndrome |
Active, Not Recruiting |
| Phase 1/2 |
| NCT03952637 |
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human… |
Lysosomal Diseases |
Recruiting |
| Not specified |
| NCT04049604 |
IDENTIFY Study: Natural History of Maternal Neoplasia |
Maternal Neoplasia |
Recruiting |
| NCT06944067 |
Study to Understand the Genetic Risk of Developing an Immune Response After Blood… |
Sickle Cell Disease |
Recruiting |
| NCT02089789 |
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of… |
Congenital Disorders of Glycosylation |
Recruiting |
| NCT00005917 |
Study of Chediak-Higashi Syndrome |
Chediak-Higashi Syndrome |
Recruiting |
| NCT00605878 |
Studies of Skin Microbes in Healthy People and in People With Skin Conditions |
Eczema |
Recruiting |
| NCT02890342 |
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia |
Metabolic Disease |
Recruiting |
| NCT04419870 |
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity |
Mitochondrial Disease |
Recruiting |
| NCT06778239 |
Childhood-Onset Essential Hypertension Natural History Study |
Hypertension |
Recruiting |
| NCT00005909 |
Study of Alkaptonuria |
Alkaptonuria |
Recruiting |
| NCT00359684 |
Use of Cysteamine in the Treatment of Cystinosis |
Cystinosis |
Recruiting |
| NCT02450851 |
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the… |
Genetic Disease |
Recruiting |
| NCT00078078 |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Organic Acidemia |
Recruiting |
| NCT05007990 |
Caregiving Networks Across Disease Context and the Life Course |
Inherited Metabolic Disorders |
Recruiting |
| NCT00369421 |
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism |
Arterial Calcification Due to Deficiency of CD73 |
Recruiting |
| NCT00001456 |
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome |
Hermansky-Pudlak Syndrome (HPS) |
Recruiting |
| NCT00029965 |
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders |
Neurological Regression |
Recruiting |
| NCT01087320 |
Genome Medical Sequencing for Gene Discovery |
Intellectual Disabilities |
Recruiting |
| NCT06092346 |
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological… |
AMPD3, OMIM*102772, AMP Deaminase Deficiency |
Recruiting |
| NCT06552754 |
Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers |
Healthy Volunteers |
Recruiting |
| NCT03854318 |
Longitudinal Studies of Patient With FPDMM |
Inherited Hematological Diseases |
Recruiting |
| NCT05657405 |
Observational Study of Advanced Data Analytics in Genetic Conditions |
Genetic Conditions |
Recruiting |
| NCT00001373 |
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics |
Familial Mediterranean Fever (FMF) |
Recruiting |