Manipulating the Gut Microbiome Study

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT03181828
• Date of registration: 01/06/2017
• Prospective Registration: No
• Primary sponsor: Nicholas Ah Mew
• Public title: Manipulating the Gut Microbiome Study
• Scientific title: Manipulating the Gut Microbiome Study
• Date of first enrolment: March 24, 2017
• Target sample size: 4
• Recruitment status: Terminated
• URL: https://clinicaltrials.gov/show/NCT03181828
• Study type: Interventional
• Study design: Allocation: Randomized. Intervention model: Crossover Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Nicholas Ah Mew, MD
• Affiliation: Children's National Research Institute

Key inclusion & exclusion criteria

Inclusion Criteria:

- For Group 1 (healthy adults):

- Ages 18-60 years

- Compliant with receiving medications orally and intravenously

- Compliant with providing blood and urine samples

For Group 2 (adult UCD patients):

- Ages 18-60 years

- Compliant with receiving medications orally and intravenously

- Compliant with providing blood and urine samples

- Established diagnosis of CPSD, OTCD, ASSD or ASLD as follows:

- Diagnosis of CPS I deficiency, defined as decreased (less than 20 % of control)
CPS I enzyme activity in liver or an identified pathogenic mutation

- Diagnosis of OTC deficiency, defined as the identification of a pathogenic
mutation, linkage analysis in an affected family, less than 20% of control of OTC
activity in the liver, or elevated urinary orotate (greater than 20 uM/mM) in a
random sample or following allopurinol loading with absence of argininosuccinic
acid

- Diagnosis of AS deficiency (Citrullinemia), defined as a greater than or equal to
10-fold elevation of citrulline in plasma, decreased AS enzyme activity in
cultured skin fibroblasts or other appropriate tissue, or identification of a
pathogenic mutation in the AS gene

- Diagnosis of AL deficiency (Argininosuccinic Aciduria, ASA), defined as the
presence of argininosuccinic acid in the blood or urine, decreased AL enzyme
activity in cultured skin fibroblasts or other appropriate tissue, or
identification of a pathogenic mutation in the AL gene

Exclusion Criteria:

- For both Group 1 and Group 2:

- Current or prior Helicobacter pylori infection

- Chronic gastrointestinal illness (e.g., inflammatory bowel disease)

- Chronic renal failure

- Taking probiotic medications within a week of study start date

- Currently pregnant or lactating. Documentation of a negative pregnancy test within a
week prior to testing is required, unless pre-menarchal or menopausal, experiencing
menses that week, or other circumstances which preclude pregnancy (e.g. hysterectomy).

- Presence of acute infection at the time of inclusion

- Participation in any other clinical interventional trial or received experimental
medication within the last 30 days

- 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



Age minimum: 18 Years
Age maximum: 60 Years
Gender: All

Health Condition(s) or Problem(s) studied

Urea Cycle Disorder

Intervention(s)

Drug: Acetohydroxamic Acid Oral Tablet [Lithostat]

Primary Outcome(s)

Blood 13CO2 [Time Frame: Time +O minutes, +30 minutes, +60 minutes, +90 minutes, +120 minutes, +180 minutes, and +240 minutes from time of [13C] Urea IV]

Secondary Outcome(s)

Blood Ammonia [Time Frame: Time +O minutes, +30 minutes, +60 minutes, +90 minutes, +120 minutes, +180 minutes, and +240 minutes from time of [13C] Urea IV]

Blood Urea [Time Frame: Time +O minutes, +30 minutes, +60 minutes, +90 minutes, +120 minutes, +180 minutes, and +240 minutes from time of [13C] Urea IV]

Blood [13C]-Urea [Time Frame: Time +O minutes, +30 minutes, +60 minutes, +90 minutes, +120 minutes, +180 minutes, and +240 minutes from time of [13C] Urea IV]

Blood Glutamine [Time Frame: Time +O minutes, +30 minutes, +60 minutes, +90 minutes, +120 minutes, +180 minutes, and +240 minutes from time of [13C] Urea IV]

Secondary ID(s)

#7230

Source(s) of Monetary Support

Please refer to primary and secondary sponsors