Frequently Asked Questions

What are the symptoms associated with having a Urea Cycle Disorder?
Symptoms vary from individual to individual, and may present at different ages.

During the first week of life a baby can become very unwell as it can no longer rely on the mother’s placenta for feeding. Once the baby is weaned and feeds are established the protein intake may exceed the capacity of the urea cycle. Babies in this situation, usually present with drowsiness, rapid breathing and vomiting.

Older children with a urea cycle disorder, may become very ill, having had a healthy childhood with no sickness prior to this deterioration. This so-called “decompensation” may be brought about by an illness or by a sudden increase in the amount of protein eaten.

There is also a group of older patients, often teenagers, which present with chronic episodes of vomiting and drowsiness.

How has my child got this condition?
Urea cycle disorders are genetic, which means that they are not brought about by anything that may have occurred during pregnancy. Genetic disorders are inherited.

If the gene is inherited from both mother and father, it is described as autosomal recessive.

If mother and father both carry the same genetic fault, each time the mother gets pregnant, there is a one in four chance that the baby will be born with a urea cycle disorder.

What does the future hold for my child?
The severity of urea cycle diseases is very variable. In some cases, the condition is so mild that the specialist needs only to see the child on an annual basis. With this group of patients an annual check-up allows the doctor to keep up to date with any changes that may be occurring as the patient gets older. With increasing age, it may become necessary to reduce protein intake and start medication.

For those children that are more severely affected, it is important to be seen and assessed regularly by a metabolic team. It is likely that the more severely affected child will need the support of the local community service in order to have access to specialist teams in addition to the metabolic doctor. This will include special needs social workers, speech therapy, physiotherapy, community paediatricians, paediatric nurse etc.

Children that are severely affected may have learning difficulties and may therefore need assessing to ensure the education he/she receives is suitable to the child’s learning ability.

What are the treatment options for my baby?

The main aim of treatment is to keep the level of ammonia in the blood down at safe levels. Several things may cause the blood ammonia to rise, these include infections or sudden increase in the amount of protein eaten. During periods of illness and infection, the body’s response is to break down body stores to supply energy. As a result of this, protein is also broken down and released back into the blood stream, which in turn leads to the ammonia level going up.

Emergency treatment during acute illnesses
If your child is feeling unwell, they should be treated with an emergency regime. This is necessary for every patient who has a urea cycle disorder, including those who may be mildly affected. This treatment varies from one individual to the next.
The emergency regimen is prescribed to suit your child as an individual.

Long term diet treatment
Patients that are diagnosed with a urea cycle disorder often have their dietary protein restricted, or they are advised to be a little cautious with the amount of protein they eat.

Restriction of protein is important as it reduces the workload on the urea cycle. The aim is to provide the body with sufficient protein to allow for growth and repair of tissue but at the same time reducing quantities to a level your child can tolerate.

Liver transplantation
Liver transplantation has been increasingly used in the management of urea cycle disorders – when conventional therapies have proven difficult, but cannot be performed in new-borns.

What happens to my baby’s regular treatment during study participation?
During the reLiver-1 trial, your baby will need to continue to receive their regular care and treatment. You should discuss your baby’s treatment with the study doctor and their regular doctor.
Will this trial improve my baby’s UCD?
The purpose of this trial is to compare how much urea is produced in babies with UCD compared to babies without UCD. Your baby will not receive any medication from this trial that will improve their urea cycle condition.

Our goal with this study is to develop an assay which will help investigate new therapies to improve the quality of life in patients with UCD.

What is a clinical trial?
Clinical studies are scientific studies in which new drugs, treatments or procedures are tested to make sure they are safe and effective for people to take and use. They are one of the most important steps in bringing new therapies to patients.
Why is clinical research important?
Clinical research adds to medical knowledge and helps bring new treatments to people with medical conditions. In order to make new treatments available to the public they need to be studied in clinical trials.

Clinical trials rely on the participation of volunteers in order to succeed. On average, it can take up to 8 years for a new treatment to reach the public, the major hold-up being how long it takes to complete the clinical trials (often due to shortage of participants).

All new medical treatments and drugs have gone through clinical trials to make sure that they are safe and effective.

Who runs clinical studies?

Clinical studies can be sponsored, or funded, by pharmaceutical companies, academic medical centres, voluntary groups, or health care providers.

The reLiver-1 trial is sponsored by Unicyte AG. You can find more information about Unicyte

Every clinical trial is led by a principal investigator, who is often a medical doctor. Clinical studies also have a research team that may include doctors, nurses, social workers, and other health care professionals

What are the phases of clinical research studies?

Clinical studies are conducted in different phases:

Phase 1: Researchers test a new drug, treatment or procedure in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.

The reLiver-1 is a Phase 1 trial to investigate a new procedure to measure accurately how much urea your baby’s liver can produce. This procedure consists of giving your baby a diagnostic substance which is a powder (ammonium chloride) diluted in water – called “tracer”. This tracer is non-toxic and non-radioactive.
The use of the tracer in this trial is experimental, but it has been given to adults and children before and was found to be safe and well tolerated.

Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.

Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.

Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the effect in different groups of patients and any side effects associated with long-term use.

What does it mean to participate?
Taking part in a clinical trial typically involves taking tests to ensure the trial is a good fit for potential participants.

For the reLiver-1 trial, your baby will go through some tests and procedures to ensure they are a match. If this trial is a good fit for your baby, you will visit the clinic regularly so that your baby receives the tracer used in this study trial. The trial staff will monitor your baby’s urea levels and well-being.

Before taking part in a trial, you are informed about what it means to participate in the trial, including how the trial is conducted, how you and your baby are protected during the trial and the risks and benefits of participating. You may choose to end your baby’s participation in the trial at any time.

You should learn about the risks and benefits of any clinical trial before you agree to take part in a trial and sign the Informed Consent Form. Talk to your doctor about specific trials you’re interested in.

Which tests and procedures does my baby need in order to be able to participate in the reLiver-1 trial?
All tests and procedures are provided at no cost to you; in a “screening visit” the following are needed:

  • Collect information about your baby’s age, sex and ethnicity.
  • Collect information about baby’s medical history (general health and any prior procedures, surgeries, or illnesses in addition to their UCD).
  • Review your baby’s current and past medications.
  • Collect information about times when your baby’s ammonia has been very high (only for UCD babies).
  • Measure the length/height, weight, and head circumference of your baby.
  • Perform a Child Development Assessment of your baby (observe and examine eyes, ears, nose, throat, cardiovascular system, respiratory system, gastrointestinal system, and other).
  • Perform a Neurological Evaluation of your baby (talk about how your baby is developing, observe their body and eye reflexes, observe their arms and legs movement and strength, observe how they react to voice and touch).
  • Take your baby’s vital signs (temperature, blood pressure, breathing rate).
  • Take blood samples, which might cause some discomfort to your baby, but are essential to know your baby’s health condition.
  • Check the details of your baby’s protein diet.