Hepato/Renal Fibrocystic DiseaseARPKDNCT01401998
ARPKD Database Study
An observational study of Hepato/Renal Fibrocystic Disease and Autosomal Recessive Polycystic Kidney Disease, run by Children's Hospital of Philadelphia at 6 sites in United States.
Trial summary
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)… Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome
- How many people
- 200 participants
- Where
- 6 sitesUnited States
- Study dates
- Jun 2011to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: In view of the genetics and demographics of the recessive disorders comprising the spectrum of hepato/renal fibrocystic diseases, we estimate that 50% of the subjects will be female; that 90% of the subjects will be Caucasian and the remainder will belong to the following racial/ethnic categories: 5% African-Americans; 3% Hispanics; 1% Asians; and 1% or less will be other categories.
Who may be able to join
- Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.
Who cannot join
- ADPKD Urinary tract malformations Major congenital anomalies of other systems
Trial locations and contacts
6 sites in 1 country. Contact the study team or a site near you to ask about taking part.
6 sites in 1 country
United States6 sites, 6 recruiting
- Recruiting
Emory
Atlanta, Georgia, 30322
Laurence Greenbaum, 404-727-0851, lgreen6@emory.edu
- Enrolling by invitation
Boston Children's
Boston, Massachusetts, 02115
- Enrolling by invitation
Cincinnati Children's
Cincinnati, Ohio, 45229
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19146
Jasmine Jaber, MS, 267-425-5325, jaberj2@chop.edu
Lisa M. Guay-Woodford, MD, 267-425-0315, guaywoodfl@chop.edu
- Recruiting
University of Utah
Salt Lake City, Utah, 84108
Raoul Nelson, 801-585-7497, raoul.nelson@hsc.utah.edu
- Recruiting
Children's National Hospital
Washington D.C., District of Columbia, 20010
Ashima Gulati, 240-531-6619, agulati2@childrensnational.org
About this study
Official title: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
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.
Read more
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.
Read the detailed description
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.
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome, Meckel-Gruber Syndrome, Congenital Hepatic Fibrosis
- Keywords
- cystic kidney disease, polycystic kidney disease, congenital hepatic fibrosis, genetic disease
- Medical subject headings
- Polycystic Kidney, Autosomal Recessive, Agenesis of Cerebellar Vermis, Bardet-Biedl Syndrome, Meckel syndrome type 1, Hepatic Fibrosis, Congenital, Caroli Disease, Nephronophthisis, familial juvenile, Kidney Diseases, Cystic
What is being measured
The primary outcome is the main question the study is designed to answer.
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC))
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource:
The aims of this Core are:
- Expand our current clinical and mutational database and establish a DNA bank
- Establish a national tissue repository for hepato/renal fibrocystic diseases
- Broaden the portfolio of educational tools developed for physicians and patients to encompass the hepato/renal fibrocystic diseases spectrum of disorders.
A unique aspect of this Core is that it builds on established clinical, genotyping, and educational programs and through the P30 mechanism will make these data/resources available to the broader community of interested investigators
Measured: five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2011 (estimated)
- Study startJun 2011
- Primary completionSep 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hepato/Renal Fibrocystic DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Lisa Guay-Woodford, MD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01401998
- Sponsor's protocol ID
- 19-016284
- Other IDs
- 2P30DK074038-06
- Acronym
- ARPKD
- Status last verified
- Jun 2026
- First submitted
- 22 Jul 2011
- Last updated
- 15 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 15 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
- ClinicalTrials.gov ID
- NCT01401998
- Acronym / sponsor ID
- ARPKD / 19-016284
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome, Meckel-Gruber Syndrome, Congenital Hepatic Fibrosis
- Keywords
- cystic kidney disease, polycystic kidney disease, congenital hepatic fibrosis, genetic disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- Jun 2011
- Primary completion
- Sep 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 26 Jul 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- In view of the genetics and demographics of the recessive disorders comprising the spectrum of hepato/renal fibrocystic diseases, we estimate that 50% of the subjects will be female; that 90% of the subjects will be Caucasian and the remainder will belong to the following racial/ethnic categories: 5% African-Americans; 3% Hispanics; 1% Asians; and 1% or less will be other categories.
Key inclusion criteria (1 listed)
- Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.
Key exclusion criteria (1 listed)
- ADPKD Urinary tract malformations Major congenital anomalies of other systems
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC))
Time frame: five years
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource: The aims of this Core are: * Expand our current clinical and mutational database and establish a DNA bank * Establish a national tissue repository for hepato/renal fibrocystic diseases * Broaden the portfolio of educational tools developed for physicians and patients to encompass the hepato/renal fibrocystic diseases spectrum of disorders. A unique aspect of this Core is that it builds on established clinical, genotyping, and educational programs and through the P30 mechanism will make these data/resources available to the broader community of interested investigators
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jun 2026.
- Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceLink provided by the sponsor.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Lisa Guay-Woodford, MD principal investigator
Children's Hospital of Philadelphia
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hepato/Renal Fibrocystic Disease and Autosomal Recessive Polycystic Kidney Disease, run by Children's Hospital of Philadelphia at 6 sites in United States.
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 1 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 15 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jasmine Jaber (267-425-5325, jaberj2@chop.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC)) (time frame: five years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 15 Jun 2026.