Non-Alcoholic Steato-HepatitisNCT01629095
Genetic Studies of Non-Alcoholic Fatty Liver Disease
An observational study of Non-Alcoholic Steato-Hepatitis and Liver Cirrhosis, run by National Human Genome Research Institute (NHGRI) at 5 sites in United States.
Trial summary
Background: Non-alcoholic fatty liver disease is the most common form of liver disease in the United States. It includes many conditions. Researchers want to study fatty liver disease by looking at people who have liver cirrhosis. They also want to look at people who are or were listed for liver transplants. Read more about this study
- Who is it for?
- Ages 1 month and older
- Conditions the study is for
- Non-Alcoholic Steato-Hepatitis, Liver Cirrhosis, Non-Alcoholic Fatty Liver Disease
- How many people
- 17 participants
- Where
- 5 sitesUnited States
- Study dates
- 23 Apr 2013to 9 Jan 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 month and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Although a liver biopsy is necessary to make the diagnosis of NASH, patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes have been ruled out are eligible to participate. Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD orcryptogenic cirrhosis are also eligible to participate.Direct blood relatives (typically parents and siblings) of affected individuals with NAFLD and associated conditions are also eligible to participate.
Who may be able to join
- Although a liver biopsy is necessary to make the diagnosis of NASH, patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes have been ruled out are eligible to participate.
- Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD or cryptogenic cirrhosis are also eligible to participate.
- Depending on their willingness to participate, subjects may enroll in DNA laboratory-only or clinical-only. However, to conserve resources and meet study objectives, subjects with known pathogenic mutations will be given priority in selection for extensive clinical studies.
- Direct blood relatives (typically parents and siblings) of affected individuals with NAFLD and associated conditions are also eligible to participate.
Who cannot join
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Pregnant women. Although fatty liver and cirrhosis are sometimes diagnosed during pregnancy, it is unclear if they were present before and just not diagnosed or if they develop as a complication of pregnancy. Additionally energy metabolism changes during pregnancy and lactation which may confound our analysis. If the condition persists after pregnancy and the diagnosis of NAFLD is
- clearly established, patients can be referred to the study.
- We will review a clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not NAFLD or related to our direct research interests (e.g. fatty liver induced by chronic alcohol use, infectious causes, drug-related, or toxin-related). This almost never happens. However, as some of these environmental factors may contribute to a multifactorial etiology of hepatic changes, we may not exclude all such cases.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
University of North Carolina
Chapel Hill, North Carolina, 27599-7030
Cleveland Clinic Transplantation Clinic
Cleveland, Ohio
Baylor University Medical Center
Dallas, Texas
University of California, San Francisco
San Francisco, California, 94143
About this study
Background:
- Non-alcoholic fatty liver disease is the most common form of liver disease in the United States. It includes many conditions. Researchers want to study fatty liver disease by looking at people who have liver cirrhosis. They also want to look at people who are or were listed for liver transplants. Genetic studies may provide more information on the causes of these conditions.
Read more
Objectives:
- To study possible genetic causes of non-alcoholic fatty liver disease.
Eligibility:
- Individuals of any age who have non-alcoholic fatty liver disease and related conditions.
Design:
- Participants will be screened with a physical exam and medical history.
- Participants will provide a blood sample for genetic testing. Liver tissue from a transplant or biopsy may also be studied.
- Participants may also be asked to have an imaging study of the liver. This imaging study may be an x-ray or magnetic resonance imaging.
- No treatment will be provided as part of this research study.
Read the detailed description
Non-Alcoholic Fatty Liver Disease (NAFLD) is the most common form of liver disease in the United States. It includes a wide spectrum of conditions from benign hepatic steatosis to cirrhosis and liver failure. Non-Alcoholic Steatohepatitis (NASH) is a term that describes specific histological characteristics of liver inflammation and seems to be a determinant step in the progression of NAFLD to cirrhosis and liver failure. The overall purpose of this study is to increase our understanding of the genetic background and pathophysiology of NAFLD through detailed review of physical, radiologic and pathology characteristics, when available. We will perform genetic analysis of known and candidate genes and will assess inheritance through evaluation of unaffected relatives. Most patients will be seen by hepatologists in transplant centers and hepatology clinics across the country. A subset of patients and their families may be seen at the NIH Clinical Center.
- Keywords
- Liver Transplantation, Genetics
- Medical subject headings
- Liver Cirrhosis, Non-alcoholic Fatty Liver Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| NAFLD | Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD or cryptogenic cirrhosis are also eligible to participate. | |
| NASH | Patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes havebeen ruled out are eligible to participate. |
What is being measured
The primary outcome is the main question the study is designed to answer.
To better understand the underlying mechanisms of liver regeneration and the development of NASH.
(a) To determine the role of the Sonic Hedgehog signaling pathway and related genes in the predisposition to liver injury and NASH.(b) To compare gene variants (with known or suspected abnormal functional effects) with the phenotypes observed in patients (i.e. genotype- phenotype correlations) as documented in the study.(c) To verify recurrence risks /inheritance patterns for each of the candidate genes.
Measured: One point in time
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jun 2012 (estimated)
- Study start23 Apr 2013
- Primary completion9 Jan 2017
- Study completion9 Jan 2017
Why it stopped: Slow/insufficient accrual
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Non-Alcoholic Steato-HepatitisStudies of the same condition, open and under way.
- 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
- 17 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Paul S Kruszka, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01629095
- Sponsor's protocol ID
- 120147
- Other IDs
- 12-HG-0147
- Status last verified
- Nov 2020
- First submitted
- 22 Jun 2012
- Last updated
- 27 Nov 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies of Non-Alcoholic Fatty Liver Disease
- ClinicalTrials.gov ID
- NCT01629095
- Acronym / sponsor ID
- 120147
- Keywords
- Liver Transplantation, Genetics
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Slow/insufficient accrual
- Enrolment
- 17 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 23 Apr 2013 (actual)
- Primary completion
- 9 Jan 2017 (actual)
- Study completion
- 9 Jan 2017 (actual)
- First posted
- 27 Jun 2012 (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.
Background:
- Non-alcoholic fatty liver disease is the most common form of liver disease in the United States. It includes many conditions. Researchers want to study fatty liver disease by looking at people who have liver cirrhosis. They also want to look at people who are or were listed for liver transplants. Genetic studies may provide more information on the causes of these conditions.
Objectives:
- To study possible genetic causes of non-alcoholic fatty liver disease.
Eligibility:
- Individuals of any age who have non-alcoholic fatty liver disease and related conditions.
Design:
- Participants will be screened with a physical exam and medical history.
- Participants will provide a blood sample for genetic testing. Liver tissue from a transplant or biopsy may also be studied.
- Participants may also be asked to have an imaging study of the liver. This imaging study may be an x-ray or magnetic resonance imaging.
- No treatment will be provided as part of this research study.
Detailed description
Non-Alcoholic Fatty Liver Disease (NAFLD) is the most common form of liver disease in the United States. It includes a wide spectrum of conditions from benign hepatic steatosis to cirrhosis and liver failure. Non-Alcoholic Steatohepatitis (NASH) is a term that describes specific histological characteristics of liver inflammation and seems to be a determinant step in the progression of NAFLD to cirrhosis and liver failure. The overall purpose of this study is to increase our understanding of the genetic background and pathophysiology of NAFLD through detailed review of physical, radiologic and pathology characteristics, when available. We will perform genetic analysis of known and candidate genes and will assess inheritance through evaluation of unaffected relatives. Most patients will be seen by hepatologists in transplant centers and hepatology clinics across the country. A subset of patients and their families may be seen at the NIH Clinical Center.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| NAFLD | – | –Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD or cryptogenic cirrhosis are also eligible to participate. |
| NASH | – | –Patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes havebeen ruled out are eligible to participate. |
Who may qualify
- Ages
- 1 month and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Although a liver biopsy is necessary to make the diagnosis of NASH, patients with radiologic evidence of fatty liver and/or cirrhosis in which other causes have been ruled out are eligible to participate. Patients who have already undergone liver transplantation for a confirmed diagnosis of NAFLD orcryptogenic cirrhosis are also eligible to participate.Direct blood relatives (typically parents and siblings) of affected individuals with NAFLD and associated conditions are also eligible to participate.
Key inclusion criteria (4 listed)
Key exclusion criteria (4 listed)
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Pregnant women. Although fatty liver and cirrhosis are sometimes diagnosed during pregnancy, it is unclear if they were present before and just not diagnosed or if they develop as a complication of pregnancy. Additionally energy metabolism changes during pregnancy and lactation which may confound our analysis. If the condition persists after pregnancy and the diagnosis of NAFLD is
- clearly established, patients can be referred to the study.
- We will review a clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not NAFLD or related to our direct research interests (e.g. fatty liver induced by chronic alcohol use, infectious causes, drug-related, or toxin-related). This almost never happens. However, as some of these environmental factors may contribute to a multifactorial etiology of hepatic changes, we may not exclude all such cases.
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
To better understand the underlying mechanisms of liver regeneration and the development of NASH.
Time frame: One point in time
(a) To determine the role of the Sonic Hedgehog signaling pathway and related genes in the predisposition to liver injury and NASH.(b) To compare gene variants (with known or suspected abnormal functional effects) with the phenotypes observed in patients (i.e. genotype- phenotype correlations) as documented in the study.(c) To verify recurrence risks /inheritance patterns for each of the candidate genes.
Results and safety
The study was stopped early (reason given: Slow/insufficient accrual). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Nov 2020.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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. This study is not recruiting at the moment.
Paul S Kruszka, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Non-Alcoholic Steato-Hepatitis and Liver Cirrhosis, run by National Human Genome Research Institute (NHGRI) at 5 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 4 inclusion and 4 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: stopped early, as of the sponsor's last update on 27 Nov 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 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?
The study was stopped early (reason given: Slow/insufficient accrual). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To better understand the underlying mechanisms of liver regeneration and the development of NASH. (time frame: One point in time). 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 27 Nov 2020.