Clinical trials: Propionic Acidemia
Metabolic Disease, Propionic Acidemia
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases.
- Conditions
- Metabolic Disease, Propionic Acidemia, Organic Acidemia
- Trial name
- NCT02890342
- Where
- 2 sites in United States
- Volunteers
- 1,045 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
Long-term Efficacy of Carglumic Acid in Organic Acidemia.
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
- Trial name
- NCT04284917
- Testing
- Carglumic Acid (Carbaglu®)
- Where
- Taiwan
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Hyperammonemia, Methylmalonic Acidemia
An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.
- Conditions
- Hyperammonemia, Methylmalonic Acidemia, Propionic Acidemia
- Trial name
- NCT05040178
- Testing
- Carglumic Acid
- Where
- 5 sites in United States
- Volunteers
- 20 people
- Sponsor
- RECORDATI GROUP
Urea Cycle Disorders, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
Propionic Acidemia
Anaplerotic Therapy in Propionic Acidemia
The objective of this project is to define whether nutritional supplements (ornithine alpha-ketoglutarate, glutamine, or citrate) capable of filling-up the citric acid cycle (anaplerotic therapy) can improve hyperammonemia…
- Trial name
- NCT00645879
- Testing
- ornithine alpha ketoglutarate, glutamine, disodium citrate
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Nicola Longo