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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.
Register: ClinicalTrials.gov
Last refreshed on: 16 December 2017
Main ID:  NCT01597440
Date of registration: 10/05/2012
Prospective Registration: Yes
Primary sponsor: Mendel Tuchman
Public title: Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Scientific title: Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Date of first enrolment: September 2012
Target sample size: 1
Recruitment status: Terminated
URL:  https://clinicaltrials.gov/show/NCT01597440
Study type:  Interventional
Study design:  Allocation: Randomized. Intervention model: Parallel Assignment. Primary purpose: Treatment. Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor).  
Phase:  Phase 2
Countries of recruitment
United States
Contacts
Name:     Mendel Tuchman, MD
Address: 
Telephone:
Email:
Affiliation:  Children's Research Institute
Key inclusion & exclusion criteria

Inclusion Criteria

- Aged 4 weeks or younger (0-28 days)

- >36 weeks gestational age at birth

- Birth weight =2500 g

- Plasma ammonia level at presentation >150 mcmol/L

- PA or MMA presumed or established diagnosis as follows (one of the following):

1. Acidosis at presentation, pH <7.3 OR

2. Plasma acylcarnitine analysis either alone or as part of newborn screening,
demonstrating C3 >4 mcmol/L OR

3. Diagnosed, or sibling diagnosed with PA by semi-quantitative urine organic acid
analysis, defined as presence of elevated methylcitric acid and no evidence of
biotin related disorders in the organic acid analysis OR

4. Diagnosed, or sibling diagnosed with MMA by semi-quantitative urine organic acid
analysis, defined as elevation of methylmalonic acid and no evidence of vitamin
B12 dependent disorder on plasma amino acid analysis

- Able to receive medications orally, by nasogastric (NG)-tube or by gastric (G)-tube

- No concomitant illness which would preclude safe participation as judged by the
investigator

- Signed informed consent by the subject's legally acceptable representative

- After initial enrollment, criteria 3 or 4 (definitive diagnosis of the patient) must
be fulfilled prior to discharge from initial admission in order to remain in the
study.

Exclusion Criteria

- Had any prior hyperammonemic episode

- Administration of NCG within 7 days of participation in the study

- Use of any other investigational drug, biologic, or therapy, with the exception of
sodium benzoate or sodium phenylacetate if the latter were administered prior to
diagnosis by acylcarnitine analysis (diagnostic inclusion criterion 2), or organic
acid analysis (diagnostic inclusion criteria 3 & 4)

- Planned participation in any other clinical trial

- Diagnosis of any medical condition causing hyperammonemia which is not PA or MMA.

- Any clinical or laboratory abnormality or medical condition that, at the discretion of
the investigator, may put the subject at an additional risk by participating in this
study

- Had a liver transplant or is scheduled for a liver transplant

- Is not expected to be compliant with this study in terms of returning to site for
subsequent episodes of hyperammonemia crises or for long-term follow-up



Age minimum: N/A
Age maximum: 4 Weeks
Gender: All
Health Condition(s) or Problem(s) studied
Methylmalonic Acidemia
Propionic Acidemia
Intervention(s)
Drug: N-carbamylglutamate
Other: Standard of Care
Primary Outcome(s)
Neurodevelopment [Time Frame: 30 months]
Secondary Outcome(s)
Number of Participants With Adverse Events [Time Frame: Start of episode through 7 days or discharge (if earlier)]
Secondary ID(s)
NCGC 0007
Source(s) of Monetary Support
Please refer to primary and secondary sponsors
Secondary Sponsor(s)
Boston Children’s Hospital
Children's Hospital of Philadelphia
Children's Research Institute
Lucile Packard Children's Hospital
University Hospitals Cleveland Medical Center
University of California, Los Angeles
University of Colorado, Denver
Ethics review
Results
Results available: Yes
Date Posted: 26/04/2017
Date Completed:
URL: https://clinicaltrials.gov/ct2/show/results/NCT01597440
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