ARPKD Database Study

NCT01401998 | Recruiting DMC

• 2 other identifiers: 19-0162842P30DK074038-06
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 6

Brief 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), 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:

• 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.

Conditions

Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

Keywords

cystic kidney disease; polycystic kidney disease; congenital hepatic fibrosis; genetic disease

Outcome Measures

Primary Outcomes (1)

• 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

  five years

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

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

You may not qualify if:

• ADPKD Urinary tract malformations Major congenital anomalies of other systems

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (6)

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Emory

Atlanta, Georgia, 30322, United States

RECRUITING

Boston Children's

Boston, Massachusetts, 02115, United States

ENROLLING BY INVITATION

Cincinnati Children's

Cincinnati, Ohio, 45229, United States

ENROLLING BY INVITATION

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19146, United States

RECRUITING

University of Utah

Salt Lake City, Utah, 84108, United States

RECRUITING

Related Links

• Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

Biospecimen

Retention: SAMPLES WITH DNA

Blood-derived DNA and lymphocytes for EBV-immortalized cell lines. Remnant tissue samples affected with Hepato/Renal Fibrocystic Diseases

MeSH Terms

Conditions

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; Polycystic Kidney Diseases; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Retinitis Pigmentosa; Eye Diseases, Hereditary; Eye Diseases; Choledochal Cyst; Bile Duct Diseases; Biliary Tract Diseases; Digestive System Diseases; Digestive System Abnormalities

Study Officials

• Lisa Guay-Woodford, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jasmine Jaber

CONTACT

267-425-5325; jaberj2@chop.edu

Lisa M Guay-Woodford, MD

CONTACT

267-425-0315; guaywoodfl@chop.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 22, 2011
• First Posted: July 26, 2011
• Study Start: June 1, 2011
• Primary Completion (Estimated): September 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: June 13, 2025

Record last verified: 2025-06

Locations

US (6)