Clinical trials: N-Acetylglutamate Synthase Deficiency
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
N-acetylglutamate Synthase (NAGS) Deficiency
Orphan Europe Carbaglu® Surveillance Protocol
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information.
- Trial name
- NCT03409003
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicholas Ah Mew
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency
The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Objectives: To study nutrition and immune system problems in people with urea cycle disorders. To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines.
- Conditions
- Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia, Ornithine Carbamoyltransferase Deficiency
- Trial name
- NCT01421888
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)