Your family's experience is evidence.
Investigational gene therapies for urea cycle disorders are now being studied.
But much of what daily life with a urea cycle disorder is actually like — the symptoms, the management, the risks, the toll on a whole family — is still missing from the formal record. Especially for children cared for outside of clinical trials.
This study documents those experiences, so they're part of how future treatments are studied and evaluated.
This is a research study about experiences. It does not offer treatment, medical advice, or access to a clinical trial, and taking part does not affect your child's care or any services you receive.
Why family experience is part of the evidence
Researchers, regulators, and treatment developers increasingly rely on patient-experience evidence — structured documentation of what a condition is actually like to live with. For urea cycle disorders, that picture is still thin, particularly for children managed day to day at home rather than enrolled in a trial.
Gene therapies — investigational approaches designed to address the underlying genetic cause by delivering or repairing a working copy of the affected gene — are being studied in people for some urea cycle disorders and are still in laboratory development for others. These approaches are investigational and not approved. Many children are outside current trial eligibility, for reasons such as age, sex, clinical history, or which urea cycle disorder they have.
This study gathers evidence from families raising children with a urea cycle disorder, including those outside current trials, on the things that shape daily life: symptoms and management, the risk of metabolic crises and emergencies, effects on development, school, and family, the tradeoffs of current treatments, and the outcomes families consider most meaningful. The goal is a fuller, more accurate record for everyone working on these diseases.
Four ways to share your experience
Each option contributes to the study in a different way. You are welcome to choose whichever suits you, or to take part in more than one.
The survey
Structured questions covering daily management, symptoms, risks, and priorities, with an optional extra section of about 10 minutes. This gives the most consistent, comparable record across families.
Take the surveyAn interview
A guided conversation, in your own words, for context a survey can't capture. Interviews are held on Microsoft Teams (camera optional) and, with your permission, audio-recorded and transcribed for analysis.
Request an interviewA voice memo or written note
Respond to a few open prompts by recording a voice memo or writing a note, whenever it suits you. Submissions are transcribed for analysis. You don't need to prepare.
Send a voice memo or noteA listening session
A facilitated virtual session with other families: brief prepared remarks, group discussion, and anonymous live polls. Sessions are recorded with participants' permission. You can use a first name or pseudonym and keep your camera off.
Sign up for a sessionNot sure which fits? The survey is a good place to start, and you can add another format later.
Who we hope to hear from
Who can take part: Parents, legal guardians, and primary caregivers, 18 or older, of a child under 12 with a urea cycle disorder. Families managing frequent crises and families with few or none are all welcome. Girls with OTC deficiency who have symptoms are included, even if they have been described as carriers.
Urea cycle disorders include OTC deficiency, CPS1 deficiency, NAGS deficiency, citrullinemia type I (ASS1 deficiency), argininosuccinic aciduria (ASL deficiency), arginase 1 deficiency, HHH syndrome, and citrin deficiency. Families of children with lysinuric protein intolerance (LPI), which is often grouped with the urea cycle disorders, are also welcome.
We also invite the following families to take part. Because their experiences differ, these groups may be described and analyzed separately:
- Families of children who have had a liver transplant, reporting on the years before the transplant
- Families who have lost a child to a urea cycle disorder, reporting on the time their child was under 12
Not sure whether the study applies to you? Email hello@ucdlisteningproject.org, or start the survey: a few early questions will point you the right way.
What taking part involves
It's voluntary
Taking part is entirely your choice. You can skip any question, and you can stop at any time, for any reason, without giving one.
Time
The survey takes about 15–20 minutes, plus an optional extra section of about 10 minutes. An interview runs 30–60 minutes. A listening session runs about 90 minutes. A voice memo or written note takes about 15–30 minutes. If you agree to a brief follow-up to check our summary of what you told us, that takes about 15–20 minutes.
Compensation
Survey $30, interview $50, listening session $100, voice memo $20, paid by electronic gift card sent to the email address you give on a separate contact form after the activity. Payment is not withdrawn if you skip questions or stop early after meaningful participation. You may decline compensation, for example if a payment could affect public-benefit eligibility, without any effect on your participation.
Your information and who sees it
Survey responses are collected in Qualtrics. Recordings, transcripts, and other study records are kept in University of South Carolina–approved secure storage, with access limited to the study team, and your contact and payment details are stored separately from your responses. Findings are reported in aggregate. De-identified data may be shared with other qualified researchers, including at advocacy organizations, universities, or organizations developing treatments, or placed in a research data repository, with identifying details removed first.
Quotes and recordings
Interviews, voice memos, and listening sessions are transcribed for analysis. Short quotes may be used in reports or publications, but your name will not be attached without your permission, and identifying details are removed or generalized.
Confidentiality
We protect your information and will not use your name in any report without your permission. Because urea cycle disorders are rare, we cannot guarantee that a determined reader could never recognize a family from a combination of details, so we remove or generalize identifying information in anything we share. In a listening session, other participants will hear what you share; we ask everyone to keep the session confidential, but we cannot guarantee that they will.
Full details, including your rights as a participant, are in the study information sheet, which you will also see before the survey begins.
Count us in.
Share your family's experience. The survey is a good place to start, and you're welcome to add an interview, a voice memo, or a session as well.
Take the surveyVoluntary. You can skip any question and stop at any time. This study does not offer treatment, medical advice, or access to a clinical trial.