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Urea Cycle DisordersNCT01549015

Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function

A study testing oral administration of Sodium [1,2-13C]-Acetate in people with Urea Cycle Disorders, run by Cytonet GmbH & Co. KG at 4 sites in Germany.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle disorders. Read more about this study

Who is it for?
Ages Up to 65 yearsHealthy volunteers can take part
Conditions the study is for
Urea Cycle Disorders
What is being tested?
oral administration of Sodium [1,2-13C]-Acetate
Type of treatment
Pill or oral medicine
How many people
37 participants
Where
4 sitesGermany
Study dates
Jan 2012to Mar 2013
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 65 years
  • All sexes
  • Healthy volunteers accepted
  • Child, Adult, Older adult

Who may be able to join

  • All study groups:
  • Written informed consent given by subjects or his/her parents/legal guardians who are able to understand and follow instructions related to the study
  • Group 1 Healthy Volunteers:
  • Age: 18 - 65 years
  • Healthy subjects
  • No clinical or laboratory parameter outside normal ranges at screening and judged as clinically relevant by the investigator
Show all 17Show fewer
  • Group 2 Symptomatic UCD patients with genetically confirmed CPSD, OTCD, ASSD, or ASLD:
  • Age: 0 - 65 years
  • Symptomatic subjects with genetically confirmed Carbamylphosphate synthetase I Deficiency [CPSD], Ornithine Transcarbamylase Deficiency [OTCD], Argininosuccinate Synthetase Deficiency [Citrullinaemia type I], Argininosuccinate Lyase Deficiency [ASLD]
  • at least 1 metabolic decompensation with clinical signs of hyperammonemia in medical history or genetically confirmed and prospectively treated siblings of symptomatic patients, even without clinical symptoms
  • Confirmed diagnosis and medical history available (in particular number and severity of metabolic crises)
  • Group 3 Asymptomatic carriers of UCD mutations:
  • Age: 0 - 65 years
  • Asymptomatic carriers of mutations for Carbamylphosphate synthetase I Deficiency [CPSD], Ornithine Transcarbamylase Deficiency [OTCD], Argininosuccinate Synthetase Deficiency [Citrullinaemia type 1], Argininosuccinate Lyase Deficiency [ASLD] no dietary protein restriction, no intake of ammonia scavenging drugs, no known metabolic decompensation with clinical signs of hyperammonemia
  • Group 4:
  • Infants between 8 - 10 kg body weight Symptomatic subjects with genetically confirmed Carbamylphosphate synthetase I Deficiency [CPSD] Ornithine Transcarbamylase Deficiency [OTCD] Argininosuccinate Synthetase Deficiency [Citrullinaemia type I] Argininosuccinate Lyase Deficiency [ASLD] at least 1 metabolic decompensation with clinical signs of hyperammonemia in medical history or genetically confirmed and prospectively treated siblings of symptomatic patients, even without clinical symptoms
  • Confirmed diagnosis and medical history available (in particular number and severity of metabolic crises

Who cannot join

  • Acute illness, including vomiting, fever or other sign of infection
  • Participation in other invasive clinical trials within 30 days prior to inclusion
  • Liver or renal disease
  • Acute seizures
  • Coma
  • Bleeding disorder
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  • Blood ammonia > 100 µmol/l for patients with a urea cycle disorder and blood ammonia > normal for healthy probands and asymptomatic carriers
  • Metabolic acidosis
  • Pregnancy or lactation
  • Body weight < 8kg
  • Chronic somatic or psychiatric disease not related to UCD

Trial locations and contacts

4 sites in 1 country.

Germany4 sites

  • Study site

    CRS Clinical Research Services GmbH (Phase I Unit), Mönchengladbach, 41061

  • Medizinische Hochschule Hannover, Klinik für Kinderheilkunde

    Hanover, 30625

  • Universitätsklinikum Heidelberg Klinik für Kinderheilkunde I

    Heidelberg, D-69120

  • Universitätsklinikum Münster, Zentrum für Kinder- und Jugendmedizin

    Münster, 48149

Other trials in Germany

About this study

Official title: Open, Prospective, Diagnostic, Multicentre Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD), and Carriers of UCD Mutations, to Evaluate in Vivo Ureagenesis Measured After a Single Application of Sodium [1,2-13C]-Acetate

This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle disorders. The ureagenesis rate will be measured by 13C incorporation assay, a method for in vivo measurement of urea cycle performance with stable isotopes.

Read the detailed description

In this diagnostic study CCD09, the urea metabolism in UCD subjects (patients and carriers) and healthy subjects of different age and sex will be assessed by measurement of the incorporation of 13C from orally taken sodium [1,2-13C]-acetate into urea by 13C stable isotope ratio detection. The aim of the study is to determine the 13C urea production and to quantify the total urea production in healthy subject, gene defect carrier or patient as marker for the functioning of the urea cycle. Since there are still only few data available using this specific method for measurement of urea cycle performance, the aim of this study CCD09 is to gain additional results on the 13C assay. To this end, comparison will be made between 13C urea production observed in healthy subjects, UCD patients, and asymptomatic mutation carriers.

An evaluation of this study may also enable the treating physician to better judge the severity of disease and the future risk of metabolic decompensations in patients as well as the potential risk for so far asymptomatic carriers.

Being tested
oral administration of Sodium [1,2-13C]-Acetate
Keywords
Urea Cycle Defects, CPSD, OTCD, ASSD, ASLD
Medical subject headings
Urea Cycle Disorders, Inborn

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • oral administration of Sodium [1,2-13C]-AcetateOther

    single dose of 0.55 mg/kg 13C-Acetate given orally of via a naso-gastric tube

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Formation of 13C-urea in plasma

    Measured: 0 - 240 Minutes

Secondary outcomes (8)

  1. Vital signs

    blood pressure, heart rate, temperature and respiratory rate at enrollment and after completion

    Measured: 0-240 min

  2. Complete blood count without differential

    Measured: at enrollement

  3. Adverse events

    Measured: 0-240 mins

  4. Ammonia, Amino acids, Urea in serum

    Measured: 0-240 min

  5. CRP

    Measured: at enrollment

  6. Venous lactate and blood gases: pH, pCO2, pO2, bicarbonate

    Measured: at enrollment

  7. Blood glucose

    Measured: 0 - 240 min

  8. pH and bicarbonate

    Measured: 20 and 60 mins after administration

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted8 Mar 2012 (estimated)
  2. Study startJan 2012
  3. Primary completionJul 2012
  4. Study completionMar 2013

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Diagnosis
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
37 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01549015
Sponsor's protocol ID
CCD09
Other IDs
2011-002472-16
Status last verified
Jun 2013
First submitted
16 Jan 2012
Last updated
26 Jun 2013
Results posted
No
Data monitoring committee
No

Questions about this trial

What is this clinical trial studying?

A study testing oral administration of Sodium [1,2-13C]-Acetate in people with Urea Cycle Disorders, run by Cytonet GmbH & Co. KG at 4 sites in Germany.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 17 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 26 Jun 2013. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 4 sites in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Formation of 13C-urea in plasma (time frame: 0 - 240 Minutes). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01549015.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jun 2013.

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