Natural History of Noncirrhotic Portal Hypertension

NCT02417740 | Recruiting

• 2 other identifiers: 15010815-DK-0108
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH. Objectives: \- To learn more about how NCPH develops over time. Eligibility: \- People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse. Design:

• Participants will have 2 screening visits.
• Visit 1: to see if they have or may develop NCPH.
• Medical history
• Physical exam
• Urine and stool studies
• Abdominal ultrasound
• Fibroscan. Sound waves measure liver stiffness. \<TAB\>- Visit 2:
• Blood tests
• Abdominal MRI
• Echocardiogram
• Questionnaire
• Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein.
• They may have a liver biopsy.
• All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly.
• Participants with NCPH will also have:
• Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach.
• At least every 2 years: Esophagogastroduodenoscopy.
• At least every 4 years: testing including HVPG measurements and liver biopsy.
• Participants without NCPH will also have:
• Liver biopsy and HVPG measurements to see if they have NCPH.
• Every 2 years: abdominal MRI and stool studies.
• The study will last indefinitely.

Conditions

Turner Syndrome; Cystic Fibrosis; Immunologic Deficiency Syndrome; Idiopathic Non-Cirrhotic Portal Hypertension; Congenital Hepatic Fibrosis

Keywords

Portal Hypertension; Portal Fibrosis; Liver Disease; Varices; Splenomegaly; Natural History

Outcome Measures

Primary Outcomes (1)

• To study the natural history of non cirrhotic portal hypertension. It is an ongoing study.

  natural history study

  Ongoing

Study Arms (4)

Adult with absence of Portal Hypertension

Confirmed absence of Portal Hypertension will have no findings suggestive of non cirrhotic portal hypertension on liver biopsy and on portal pressure measurements on confirmatory examination.

Adult with presence of Portal Hypertension

Confirmed Presence of Noncirrhotic Portal Hypertension, through confirmatory testing, tissue diagnosis by liver biopsy and/or portal hypertension (HVPG \>5mmHg).

Minors likely to have the absence of Portal Hypertension

Minors identified as Confirmed Absence of Noncirrhotic Portal Hypertension will have no abnormal findings on confirmatory examination.

Minors likely to have the presence of Portal Hypertension

Minors identified as Confirmed Presence of Noncirrhotic Portal Hypertension, have shown they have the disease with a tissue diagnosis by liver biopsy and/or portal hypertension (HVPG \>5).

Eligibility Criteria

• Age: 12 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with diagnosis of noncirrhotic portal hypertension above age of 12 years

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• Male or female, aged \>= 18 years of age, and minors 12-17 years of age.
• Women of childbearing potential must agree to use birth control unless they are menopausal or had hysterectomy.
• Known diagnosis of NCPH, or to be at the risk for NCPH by virtue of underlying disease processes such as but not limited to; CGD, SCD, Mastocytosis, CVID, CF, and CHF.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Pregnancy.
• Evidence of other forms of liver disease that typically result in cirrhosis.
• Evidence of active Chronic Hepatitis B infection as defined by the presence of hepatitis B surface antigen (HBsAg) in serum and elevated HBV DNA (\>10,000 IU/mL).
• Hepatitis C as defined by the presence of hepatitis C RNA in serum.
• Evidence of other liver disease such as primary sclerosing cholangitis, primary biliary cirrhosis, Wilson s disease, autoimmune hepatitis as defined by either liver histology or laboratory abnormalities.
• Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy or homozygosity for C282Y. Patients with iron saturation indices of \>45% and serum ferritin levels of \>300 ng/ml for men and \>250 ng/ml for women will undergo genetic testing for hemochromatosis.
• Bile duct obstruction as suggested by imaging studies done within the previous six months.
• The presence of cirrhosis confirmed by liver biopsy.
• Active substance abuse, such as alcohol, inhaled or injection drugs within the previous one year (assessed during subject interviews by subject self-report).
• Evidence of hepatocellular carcinoma; either alpha-fetoprotein (AFP) levels greater than 50 ng/ml (normal \<6.6ng/ml) and/or ultrasound (or other imaging study) demonstrating a mass suggestive of liver cancer.
• Evidence of cholangiocarcinoma as suggested by liver histology.
• Any other severe condition, which in the opinion of the investigators would impede the patient s participation or compliance in the study.
• Inability to comply or give written informed consent.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• Sarin SK, Aggarwal SR. Idiopathic portal hypertension. Digestion. 1998 Jul-Aug;59(4):420-3. doi: 10.1159/000007502. No abstract available.

  PMID: 9693222 BACKGROUND

• Sarin SK, Kumar A, Chawla YK, Baijal SS, Dhiman RK, Jafri W, Lesmana LA, Guha Mazumder D, Omata M, Qureshi H, Raza RM, Sahni P, Sakhuja P, Salih M, Santra A, Sharma BC, Sharma P, Shiha G, Sollano J; Members of the APASL Working Party on Portal Hypertension. Noncirrhotic portal fibrosis/idiopathic portal hypertension: APASL recommendations for diagnosis and treatment. Hepatol Int. 2007 Sep;1(3):398-413. doi: 10.1007/s12072-007-9010-9. Epub 2007 Sep 11.

  PMID: 19669336 BACKGROUND

• Schouten JN, Garcia-Pagan JC, Valla DC, Janssen HL. Idiopathic noncirrhotic portal hypertension. Hepatology. 2011 Sep 2;54(3):1071-81. doi: 10.1002/hep.24422. Epub 2011 Jul 21.

  PMID: 21574171 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Cystic Fibrosis; Immunologic Deficiency Syndromes; Turner Syndrome; Hepatic Fibrosis, Congenital; Idiopathic Noncirrhotic Portal Hypertension; Hypertension, Portal; Liver Diseases; Varicose Veins; Splenomegaly

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Immune System Diseases; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases; Vascular Diseases; Hypertrophy; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Theo Heller, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jaha F Norman-Wheeler

CONTACT

(301) 435-6122; jaha.norman-wheeler@nih.gov

Theo Heller, M.D.

CONTACT

(301) 402-7147; theoh@intra.niddk.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2015
• First Posted: April 16, 2015
• Study Start: July 27, 2015
• Primary Completion (Estimated): September 4, 2029
• Study Completion (Estimated): September 4, 2029
• Last Updated: April 30, 2026

Record last verified: 2026-04-28

Locations

US (1)