Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia

• 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
• 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 Research Institute

University of Colorado, Denver

Children's Hospital of Philadelphia

University of California, Los Angeles

Lucile Packard Children's Hospital

University Hospitals Cleveland Medical Center

Results

• Results available: Yes
• Date Posted: 26/04/2017
• URL: https://clinicaltrials.gov/ct2/show/results/NCT01597440