UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
| Status: | Recruiting |
|---|---|
| Conditions: | Renal Impairment / Chronic Kidney Disease, Women's Studies, Gastrointestinal, Nephrology, Pulmonary |
| Therapuetic Areas: | Gastroenterology, Nephrology / Urology, Pulmonary / Respiratory Diseases, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 9/22/2018 |
| Start Date: | June 2011 |
| End Date: | December 2020 |
| Contact: | Elena Gibson, RN (GER) |
| Email: | egibson@childrensnational.org |
| Phone: | 202-476-2922 |
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))
In 2005, The University of Alabama at Birmingham established a NIDDK-funded,
interdisciplinary center of excellence in PKD-related research, with specific emphasis on
recessive PKD. In the previous Core Center award period, we developed a Core Resource to
capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic
Resource", NCT00575705). However, studies in the last several years have demonstrated that
ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal
phenotypes share numerous pathogenic features. In the current competitively- renewed Center,
we have expanded this Core resource to include other hepato/renal fibrocystic diseases.
Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are:
1. - Clinical Database:
• Expand our comprehensive Clinical Database to include information from all patients
who meet the inclusion criteria for hepato/renal fibrocystic diseases.
2. - 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.
All the information regarding participation in "Core A: The Hepato/Renal Fibrocystic Diseases
Translational Resource" is available at: http://www.arpkdstudies.uab.edu/.
interdisciplinary center of excellence in PKD-related research, with specific emphasis on
recessive PKD. In the previous Core Center award period, we developed a Core Resource to
capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic
Resource", NCT00575705). However, studies in the last several years have demonstrated that
ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal
phenotypes share numerous pathogenic features. In the current competitively- renewed Center,
we have expanded this Core resource to include other hepato/renal fibrocystic diseases.
Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are:
1. - Clinical Database:
• Expand our comprehensive Clinical Database to include information from all patients
who meet the inclusion criteria for hepato/renal fibrocystic diseases.
2. - 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.
All the information regarding participation in "Core A: The Hepato/Renal Fibrocystic Diseases
Translational Resource" is available at: http://www.arpkdstudies.uab.edu/.
The entry portal for Core A is designed so that physicians who contact the CLIA-certified UAB
Medical Genomics Laboratory (MGL) requesting information about PKHD1 testing and any
patient/parent/legally authorized representative looking for information online about any of
the hepato-renal diseases included in this study will be directed to the UAB Hepato/Renal
Fibrocystic Disease Translational Resource website http://www.arpkdstudies.uab.edu/.
The Informed Consent for the Clinical Database and Information for the participant will be
posted on the website (http://www.arpkdstudies.uab.edu/) for review by potential participants
and follow-up discussions with the PI and/or Research Nurse Coordinator. In addition,
materials in paper format can be sent to interested potential participants upon request.
Two key elements will be required for patient enrollment: 1) certification that informed
consent has been obtained, and 2) participant and physician contact information form
completed by the participant.
The UAB release of information form, information for the physician and instructions on how to
enter data will be posted in the website available to the physician.
This study does not provide free genetic testing. Clinical genetic testing is available as a
fee-for-service.The following genetic testing may be offered to participants: exome
sequencing, whole-genome sequencing, whole-genome mapping (e.g. Bionano technology). We will
look for single nucleotide variants (SNVs), small deletions and insertions (INDELs) as well
as large Structural Variants (SVs, deletions, insertions, translocations, inversions). In
special cases (eg. presenting at an older age, mainly with liver or pancreatic disease)
contact Dr. Guay-Woodford at lgw@uab.edu.
High-molecular weight DNA extraction will be performed at CNMC, according to published
protocols allowing to perform Sanger sequencing, massively parallel/next-generation
sequencing (exome or whole genome sequencing) and/or whole-genome mapping.
Once receipt of the requisite items is confirmed, the following actions will proceed:
1. Each participant will be assigned a unique code identifier in the database and a
clinician-specific web field will be opened for the participant identifier.
2. The participant/parents will confirm the name of their clinician to the database and
notify their physician and/or genetic counselor (clinicians) of their intent to
participate in this study.
3. The clinician will access the Physician Link on the website and follow the instructions
about how to post data to the website. Once this is done, the name of the patient will
be deleted from the online database and only the unique identifier will be used. Each
clinician permitted to access this website will be tracked with a login procedure that
includes a process to verify who is entering the system. Clinical data will be provided
by the participant's physician through the web-based entry system, coded with a unique
identifier, and entered into the secure Clinical Database as an initial visit data (F01
or primary data form) and annual follow up (F11 or follow up form). Data entry will last
the duration of this study. No names or initials will be collected on these data forms,
but gender and date of birth (which will be converted to age and only the month and year
will be kept on file) will be requested. The physician will not receive a monetary
incentive for entering data.
4. Blood samples for diagnostic testing (with signed clinical genetic testing consent) will
be sent to the UAB MGL. The UAB MGL will perform standardized fee for service testing
for PKHD1 mutations. The clinical result will be reported to the patient's
physician/genetic counselor. As needed, genetic counseling services can be made
available through the UAB Department of Genetics (fee for service).
5. Blood samples for research purposes will come directly to the research lab from
patients/families signing the study consent and agreeing to have DNA extraction/EBV
transformation/or both. Adult and children participants need two tsp of blood and
infants need one tsp of blood.
6. This study does not provide free genetic testing. Clinical genetic testing is available
as a fee-for-service. The result of the genetic testing will be entered into the
Mutational Database if the participant or their representative provides consent to
participate in the Database.
7. Our center can be notified directly by a local physician authorized by the patient or
the patient can contact our center directly to donate hepato/renal fibrocystic disease
tissue. The research coordinator will contact the possible participant/parent/legally
authorized representative to discuss the study and their willingness to participate in
this research. If the study consents are signed, the research coordinator will call the
center/pathologist, sending the sample and provide them with instructions on how to
prepare and ship sample. On arrival to Dr. Guay-Woodford's lab, the sample will be
de-identified and coded with the participant's unique identifier and transported to the
UAB Tissue Collection and Banking Facility.
Medical Genomics Laboratory (MGL) requesting information about PKHD1 testing and any
patient/parent/legally authorized representative looking for information online about any of
the hepato-renal diseases included in this study will be directed to the UAB Hepato/Renal
Fibrocystic Disease Translational Resource website http://www.arpkdstudies.uab.edu/.
The Informed Consent for the Clinical Database and Information for the participant will be
posted on the website (http://www.arpkdstudies.uab.edu/) for review by potential participants
and follow-up discussions with the PI and/or Research Nurse Coordinator. In addition,
materials in paper format can be sent to interested potential participants upon request.
Two key elements will be required for patient enrollment: 1) certification that informed
consent has been obtained, and 2) participant and physician contact information form
completed by the participant.
The UAB release of information form, information for the physician and instructions on how to
enter data will be posted in the website available to the physician.
This study does not provide free genetic testing. Clinical genetic testing is available as a
fee-for-service.The following genetic testing may be offered to participants: exome
sequencing, whole-genome sequencing, whole-genome mapping (e.g. Bionano technology). We will
look for single nucleotide variants (SNVs), small deletions and insertions (INDELs) as well
as large Structural Variants (SVs, deletions, insertions, translocations, inversions). In
special cases (eg. presenting at an older age, mainly with liver or pancreatic disease)
contact Dr. Guay-Woodford at lgw@uab.edu.
High-molecular weight DNA extraction will be performed at CNMC, according to published
protocols allowing to perform Sanger sequencing, massively parallel/next-generation
sequencing (exome or whole genome sequencing) and/or whole-genome mapping.
Once receipt of the requisite items is confirmed, the following actions will proceed:
1. Each participant will be assigned a unique code identifier in the database and a
clinician-specific web field will be opened for the participant identifier.
2. The participant/parents will confirm the name of their clinician to the database and
notify their physician and/or genetic counselor (clinicians) of their intent to
participate in this study.
3. The clinician will access the Physician Link on the website and follow the instructions
about how to post data to the website. Once this is done, the name of the patient will
be deleted from the online database and only the unique identifier will be used. Each
clinician permitted to access this website will be tracked with a login procedure that
includes a process to verify who is entering the system. Clinical data will be provided
by the participant's physician through the web-based entry system, coded with a unique
identifier, and entered into the secure Clinical Database as an initial visit data (F01
or primary data form) and annual follow up (F11 or follow up form). Data entry will last
the duration of this study. No names or initials will be collected on these data forms,
but gender and date of birth (which will be converted to age and only the month and year
will be kept on file) will be requested. The physician will not receive a monetary
incentive for entering data.
4. Blood samples for diagnostic testing (with signed clinical genetic testing consent) will
be sent to the UAB MGL. The UAB MGL will perform standardized fee for service testing
for PKHD1 mutations. The clinical result will be reported to the patient's
physician/genetic counselor. As needed, genetic counseling services can be made
available through the UAB Department of Genetics (fee for service).
5. Blood samples for research purposes will come directly to the research lab from
patients/families signing the study consent and agreeing to have DNA extraction/EBV
transformation/or both. Adult and children participants need two tsp of blood and
infants need one tsp of blood.
6. This study does not provide free genetic testing. Clinical genetic testing is available
as a fee-for-service. The result of the genetic testing will be entered into the
Mutational Database if the participant or their representative provides consent to
participate in the Database.
7. Our center can be notified directly by a local physician authorized by the patient or
the patient can contact our center directly to donate hepato/renal fibrocystic disease
tissue. The research coordinator will contact the possible participant/parent/legally
authorized representative to discuss the study and their willingness to participate in
this research. If the study consents are signed, the research coordinator will call the
center/pathologist, sending the sample and provide them with instructions on how to
prepare and ship sample. On arrival to Dr. Guay-Woodford's lab, the sample will be
de-identified and coded with the participant's unique identifier and transported to the
UAB Tissue Collection and Banking Facility.
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
We found this trial at
1
site
Washington, District of Columbia 20010
Principal Investigator: Lisa M. Guay-Woodford, MD
Phone: 202-476-2197
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