ClinicalTrials.gov record NCT01401998

ARPKD Database Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUp to 18 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational registry gathers past and current medical information, genetic samples, and stored tissues from people with hepato/renal fibrocystic diseases (for example ARPKD and related disorders). Participation can include medical-record review only; optional parts include genetic testing (DNA banking) and tissue donation. Data are entered initially and then updated annually for the duration of the study.

What it is studying. Whether a linked clinical database, mutational (genetic) database and tissue repository can be created and expanded to support research and education about hepato/renal fibrocystic diseases.

What the researchers hope to learn. To expand a clinical database and mutational database, establish a DNA bank, create a national tissue repository, and broaden educational resources for researchers, clinicians, and families affected by hepato/renal fibrocystic diseases.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease). The lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks. This study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are:

  • - Clinical Database:
  • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases.
  • - Mutational Database:
  • Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials.

3- Tissue Resource:

  • Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders.

4- Educational Resource:

  • Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Exclusion criteria

  • ADPKD Urinary tract malformations Major congenital anomalies of other systems

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

Subject's will have the option of the database, genetic, tissue, and urine section of the study. This study does not require a clinic visit to our center. We will review past, current, and future medical information related to the database participants. Information that we will collect include: clinic notes, lab results, and physician consult reports. Subjects may be asked to sign a release of medical information form to allow the study team access to their medical records. When the information is received, the research study team will enter medical data into the Hepato-Renal Fibrocystic Diseases (HRFD) clinical database. There will be initial data entry and then annual follow up data entries lasting for the duration of this study or until subjects choose to not participate in the study anymore. We will remove subject's name or any other identifiable health information (such as name, address) from received records before entering medical data into the HRFD clinical database. If subjects choose to participate in the optional genetic material testing portion of the study, either the referring site may draw the blood sample (~5 mL or a teaspoon) or the research team will send a mailer and a blood collection kit. Samples will be collect from the subject, subject's father, and subject's mother. Once the blood samples are collected, the samples will be sent to Children's Hospital of Philadelphia and each sample will be processed to obtain the DNA. These DNA samples will be labeled only with an identifier that is unique to the subject and stored in the BioRepository at CHOP. If blood samples are unobtainable from the subject's parents, saliva samples can be collected as an alternative. In the event of research tissue donation, we will collect tissue (kidney, liver, pancreas, lung, brain, heart, and/or placenta) samples for storage at CHOP Tissue Repository. This tissue repository will be an important source for researchers to access tissue for analysis. Dr. Lisa Guay-Woodford and team will be facilitating the consenting process for collection and storage of tissue as part of her role. For individuals that will be undergoing an autopsy or nephrectomy/hepatectomy, consent will be obtained from the study participants and/or their parents. The Pathology Department at the institution performing the procedures (autopsy or nephrectomy/hepatectomy) will collect tissue according to specified protocol provided by the study coordinator. Upon receipt, the CHOP Repository will process and store the specimens. Children's Hospital of Philadelphia will serve as a research site to store and process blood specimens, and analyze electronic medical records data via REDcap.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants may choose any combination of the database, genetic, tissue, and urine sections. No clinic visit is required for the database: study staff will review past, current, and future medical records (with a signed release) and enter de‑identified data, with initial entry and annual follow‑up updates. If you opt into genetic testing, a small blood sample (~5 mL) will be collected from the participant and, if available, from both parents (saliva may be an alternative if parental blood is unobtainable); DNA will be processed and stored with a unique identifier. If tissue donation is chosen (for example at autopsy or during nephrectomy/hepatectomy), the local pathology team will collect tissue per protocol and specimens will be processed and stored at the study repository.

How the study is structured. A retrospective observational registry (cohort) that collects and stores existing and ongoing medical-record data, with optional collection of blood/saliva for DNA and donated tissue for a central repository. There is no assigned treatment; data entry occurs at enrollment and is updated annually.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start
June 2011
Primary completion
September 2030 (estimated)
Study completion
December 2030 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Jun 15, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Children's Hospital of Philadelphia
Collaborators
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (6)

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
inclusion criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
follow up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
BioRepository
A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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