| 1 |
NCT01597440 |
Terminated
Has Results |
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia |
- Propionic Acidemia
- Methylmalonic Acidemia
|
- Drug: N-carbamylglutamate
- Other: Standard of Care
|
Interventional
|
Phase 2 |
- Mendel Tuchman
- Children's Research Institute
- Boston Children’s Hospital
- (and 5 more...)
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Neurodevelopment
- Number of Participants With Adverse Events
|
1 |
All |
up to 4 Weeks (Child) |
NCT01597440 |
NCGC 0007 |
|
September 2012 |
February 2015 |
February 2015 |
May 14, 2012 |
April 26, 2017 |
April 26, 2017 |
- University of California Los Angeles
Los Angeles, California, United States - Lucile Packard Children's Hospital at Stanford
Palo Alto, California, United States - The Children's Hospital of Colorado
Aurora, Colorado, United States - (and 4 more...)
|
|
| 2 |
NCT02426775 |
Active, not recruiting |
Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia |
- Propionic Acidemia
- Methylmalonic Acidemia
|
|
Interventional
|
Phase 3 |
- King Abdullah International Medical Research Center
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of emergency visits due to hyperammonemia within 24 months period
- Time to first visit to the ER due to hyperammonemia from starting the treatment.
- Plasma ammonia levels over the study treatment period.
- (and 4 more...)
|
33 |
All |
up to 15 Years (Child) |
NCT02426775 |
RC 13/116 |
CAMP |
November 2015 |
March 2019 |
March 2019 |
April 27, 2015 |
March 8, 2018 |
|
- King Abdullah Specialist Children Hospital, King Abdulaziz Medical City
Riyadh, Saudi Arabia - King Fahad Medical City
Riyadh, Saudi Arabia
|
|
| 3 |
NCT01289158 |
Unknown † |
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study |
- Malonic Aciduria
- Methylmalonic Acidemia
|
|
Observational
|
|
- McGill University Health Center
|
Other |
- Observational Model: Case-Only
- Time Perspective: Cross-Sectional
|
|
6 |
All |
Child, Adult, Older Adult |
NCT01289158 |
10-131-PED |
|
February 2011 |
February 2012 |
February 2012 |
February 3, 2011 |
February 8, 2011 |
|
- McGill University Health Center
Montreal, Quebec, Canada
|
|
| 4 |
NCT00078078 |
Recruiting |
Clinical and Laboratory Study of Methylmalonic Acidemia |
- Amino Acid Metabolism
- Inborn Errors
|
|
Observational
|
|
- National Human Genome Research Institute (NHGRI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Time Perspective: Prospective
|
|
1250 |
All |
Child, Adult, Older Adult |
NCT00078078 |
040127
04-HG-0127 |
|
February 17, 2004 |
|
|
February 19, 2004 |
March 29, 2018 |
|
- Childrens National Medical Center
Washington, District of Columbia, United States - National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 5 |
NCT01141075 |
Terminated |
Ataluren for Nonsense Mutation Methylmalonic Acidemia |
- Amino Acid Metabolism, Inborn Errors
|
|
Interventional
|
Phase 2 |
- PTC Therapeutics
- Genzyme, a Sanofi Company
|
Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Change in plasma MMacid levels
- Change in urinary MMacid levels
- Effects of ataluren (PTC124) on additional markers of disease activity
- (and 3 more...)
|
11 |
All |
2 Years and older (Child, Adult, Older Adult) |
NCT01141075 |
PTC124-GD-012-MMA |
|
June 2010 |
July 2012 |
October 2012 |
June 10, 2010 |
January 18, 2018 |
|
- ZNA Queen Paola Child Hospital and Provincial Centre for Metabolic Disorders
Antwerp, Belgium - Hôpital Edouard Herriot
Lyon, France - Necker-Enfants Malades Hospital
Paris, France - (and 6 more...)
|
|
| 6 |
NCT03484767 |
Recruiting |
"The MaP Study": Mapping the Patient Journey in MMA and PA |
- Methylmalonic Acidemia
- Propionic Acidemia
|
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Change in plasma methylmalonic acid levels (MMA only)
- Frequency of disease related clinical events in enrolled participants (mut0 and mut- MMA patients)
- Changes in plasma 2-MC levels (PA only)
- (and 2 more...)
|
120 |
All |
Child, Adult, Older Adult |
NCT03484767 |
mRNA-3704-P001 |
|
March 20, 2018 |
March 2021 |
March 2021 |
April 2, 2018 |
June 11, 2018 |
|
- University of Pittsburgh
Pittsburgh, Pennsylvania, United States
|
|
| 7 |
NCT01599286 |
Recruiting |
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia |
- Propionic Acidemia, Type I and/or Type II
- Methylmalonic Acidemia
- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Ornithine Carbamoyltransferase Deficiency
|
- Drug: Carbaglu
- Drug: Placebo
- Drug: Standard of Care Treatment
|
Interventional
|
Phase 2 |
- Mendel Tuchman
- Children's Research Institute
- Boston Children’s Hospital
- (and 7 more...)
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Trajectory of Change in Ammonia During Hospitalization for Hyperammonemia
- Safety of NCG
|
114 |
All |
up to 99 Years (Child, Adult, Older Adult) |
NCT01599286 |
NCGC0008 |
|
September 2012 |
June 2019 |
December 2019 |
May 16, 2012 |
October 6, 2017 |
|
- University of California Los Angeles
Los Angeles, California, United States - Lucile Packard Children's Hospital at Stanford
Palo Alto, California, United States - The Children's Hospital of Colorado
Aurora, Colorado, United States - (and 6 more...)
|
|
| 8 |
NCT01793090 |
Completed |
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment |
- Methylmalonic Aciduria and Homocystinuria,Cblc Type
- Genetic Disease
- Retinopathy
|
- Drug: Epi-743
- Other: Placebo supplementation
|
Interventional
|
Phase 2 |
- Bambino Gesù Hospital and Research Institute
- Catholic University of the Sacred Heart
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change in Visual Function
- Change in steady-state luminance Visual Evoked Potentials
- Evaluation of neurological function
|
30 |
All |
1 Year to 20 Years (Child, Adult) |
NCT01793090 |
R-12-92 |
|
January 2013 |
July 2013 |
February 2017 |
February 15, 2013 |
April 25, 2017 |
|
- Bambino Gesù Hospital and Research Institute
Rome, Italy
|
|
| 9 |
NCT01341379 |
Withdrawn |
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate |
- Urea Cycle Disorders, Inborn
- Inborn Errors of Metabolism
- Propionic Acidemia
- (and 2 more...)
|
- Drug: N-carbamylglutamate
|
Interventional
|
Phase 2 |
- Children's Hospital of Philadelphia
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
|
Other / NIH |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
|
0 |
All |
3 Years to 70 Years (Child, Adult, Older Adult) |
NCT01341379 |
10-007806
R01HD058567 |
|
December 2010 |
August 2012 |
August 2012 |
April 25, 2011 |
May 29, 2014 |
|
|
|
| 10 |
NCT02322177 |
Suspended |
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol |
- Inborn Errors of Metabolism
- Pregnancy
- Acidemias
|
|
Observational
|
|
- National Human Genome Research Institute (NHGRI)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Other
|
- Maternal inborn errors of metabolism
|
2 |
Female |
14 Years to 50 Years (Child, Adult) |
NCT02322177 |
150049
15-HG-0049 |
|
December 19, 2014 |
October 1, 2024 |
October 1, 2024 |
December 23, 2014 |
April 5, 2018 |
|
- National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States - National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
|
|
| 11 |
NCT01624311 |
Completed |
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants |
- Urea Cycle Disorders
- Organic Acidemias
|
- Other: Therapeutic Hypothermia
- Other: Standard of Care Therapy
|
Interventional
|
Phase 2 |
- Uta Lichter-Konecki
- Children's Research Institute
- Medical College of Wisconsin
- Columbia University
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Number of Participants with unexpected Serious Adverse Events as a Measure of Safety and Tolerability
- Feasibility of hypothermia therapy as adjunct therapy to the complex standard of care therapy
- Time to normalization of ammonia level
|
5 |
All |
up to 30 Days (Child) |
NCT01624311 |
AAAN6104 |
|
August 2007 |
May 2015 |
May 2015 |
June 20, 2012 |
June 1, 2015 |
|
- Children's National Medical Center
Washington, District of Columbia, United States - Columbia University, Morgan Stanley Children's Hospital
New York, New York, United States - Medical College Wisconsin
Milwaukee, Wisconsin, United States
|
|
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