National Human Genome Research Institute (NHGRI)
4 clinical trials · 4 recruiting · NIH
Trials by National Human Genome Research Institute (NHGRI)
RECRUITINGNCT00078078
Clinical and Laboratory Study of Methylmalonic Acidemia
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with...
Sponsor: National Human Genome Research Institute (NHGRI)Enrolling: 22753 locations
Organic AcidemiaMethylmalonic AcidemiaInborn Errors of Metabolism
RECRUITINGNCT06092346
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary...
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout...
Sponsor: National Human Genome Research Institute (NHGRI)Enrolling: 9991 location
AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25
RECRUITINGNCT02089789
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Background: \- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly....
Sponsor: National Human Genome Research Institute (NHGRI)Enrolling: 2001 location
Congenital Disorders of Glycosylation
RECRUITINGNCT00029965
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis....
Sponsor: National Human Genome Research Institute (NHGRI)Enrolling: 2001 location
Neurological RegressionMyoclonusCherry Red Spot+1