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Trial record 12 of 79 for:    "alpha-1 antitrypsin deficiency"

Liver Disease in Patients With alpha1-antitrypsin Deficiency

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ClinicalTrials.gov Identifier: NCT02929940
Recruitment Status : Recruiting
First Posted : October 11, 2016
Last Update Posted : May 31, 2017
Sponsor:
Information provided by (Responsible Party):
RWTH Aachen University

Brief Summary:

Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death worldwide. Apart from lung disease, AATD also leads to liver involvement in up to 50% of patients. Hence, liver involvement is the second most common cause of morbidity and mortality in AATD patients. But the natural history of disease in adults is not well understood and specific therapies are still in the phase of preclinical studies. Despite these facts and the therapeutic and preventative potential, the AATD-related liver disease is still largely being neglected by both the patients and the healthcare professionals.

To improve the hepatologic care of patients with AATD, the investigators initiated a prospective multi-center study in Europe that systematically evaluates the liver function in these patients and their relatives. The investigators cooperate with both patient organizations as well as with lung centers specialized on AATD-related lung disease.


Condition or disease Intervention/treatment
alpha1-antitrypsin Deficiency Other: No intervention

Detailed Description:

Alpha1-antitrypsin deficiency (AAT deficiency) is a frequently overlooked metabolic disorder. Apart from lung disease, AAT deficiency also leads to liver disease. This can affect people of all ages and all ethnic groups. Although involvement of the liver is the second most common cause of decreased quality of life and life expectancy in Alpha1 patients, no preventative care plan, like that one implemented to avoid lung involvement, has yet been drawn up.

Chronic liver involvement therefore often remains undetected until a very late stage in diagnosed cases of AAT deficiency. This is compounded by the fact that the patients affected generally have only unspecific symptoms if any at all. Moreover, routine diagnostic measurements (e.g. liver function tests) often reveal no abnormalities. In the case of a late diagnosis, the diverse complications of liver disease can no longer be effectively prevented.

Liver involvement in AAT deficiency can lead to liver cirrhosis or liver cancer. Liver cirrhosis is the life-threatening consequence of many liver disorders and carries a poor prognosis. Besides AAT deficiency, many other - potentially treatable - conditions, such as viral hepatitis, excessive alcohol consumption and diabetes, can cause liver damage. Liver cirrhosis itself leads to many, often life-threatening secondary disorders such as heavy bleeding or liver cancer. It is therefore crucial that liver disorders such as AAT deficiency are diagnosed at an early stage, so as to prevent complications and to treat concomitant risk factors.

The investigators collaborate with various patient support groups and other hospitals specialising in AAT deficiency-associated lung disease. Together with their collaborators, the investigators hope to improve the care of affected patients and help to bring about therapeutic advances.

The aim of this study is to clarify how liver function is modified in patients with AAT deficiency. For this, among other things, the investigators use:

(i) modern ultrasound-based scanners for non-invasive measurement of the degree of liver scarring.

(ii) Specialized liver parameters in blood samples, which also provide information on any existing liver disorders (iii) Questionnaire.

Study participants receive a full, cost-free analysis of their individual liver involvement and are given appropriate recommendations for disease prevention. The examinations provide a relief to many and to everybody,the investigators are able to offer an individual liver damage prevention plan.

All adult patients (of every genotype) as well as any family members interested will be studied and advised. Besides the specialist clinic in Aachen (Germany), free examinations throughout and even outside of Germany will be offered.


Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Multi-center Study of the Liver Disease in European Patients With alpha1-antitrypsin Deficiency
Study Start Date : April 2015
Estimated Primary Completion Date : April 2020
Estimated Study Completion Date : December 2020


Group/Cohort Intervention/treatment
PiZZ
Observational
Other: No intervention
No Intervention, observational

PiMZ
Observational
Other: No intervention
No Intervention, observational

Other AATD variants
Observational
Other: No intervention
No Intervention, observational

PiMM (Control)
Observational
Other: No intervention
No Intervention, observational




Primary Outcome Measures :
  1. Number of participants with Liver fibrosis, Hepatic decompensation, Liver cancer, Death or Liver transplantation [ Time Frame: 5 years ]

Biospecimen Retention:   Samples With DNA
Blood specimen for serologic and genetic analyses


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Ages Eligible for Study:   18 Years to 99 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

All patients with alpha1-antitrypsin deficiency (AATD) and their relatives.

AATD is the third most common genetic disorder leading to death worldwide. Apart from lung disease, AATD also leads to liver involvement in up to 50% of patients. Hence, liver involvement is the second most common cause of morbidity and mortality in AATD patients. The natural history of disease is not well understood and specific therapies are lacking. Accordingly, the AATD-related liver disease is still largely being neglected by both the patients and the healthcare professionals.

Criteria

Inclusion Criteria:

  • All patients with known AATD (every genotype)
  • Relatives of patients with known AATD

Exclusion Criteria:

  • Children
  • Pregnant women
  • Patients who cannot give informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02929940


Contacts
Contact: Pavel Strnad, MD 0241-80-36606 alpha1-leber@ukaachen.de
Contact: Karim Hamesch, MD 0241-80-36606 mail@alpha1-liver.eu

Locations
Germany
RWTH Aachen University Recruiting
Aachen, North Rhine Westphalia, Germany, 52074
Contact: Pavel Strnad, MD    0241-80-36606    pstrnad@ukaachen.de   
Contact: Karim Hamesch, MD    0241-80-36606    khamesch@ukaachen.de   
Sponsors and Collaborators
RWTH Aachen University
Investigators
Principal Investigator: Pavel Strnad, MD RWTH Aachen University

Additional Information:
Responsible Party: RWTH Aachen University
ClinicalTrials.gov Identifier: NCT02929940     History of Changes
Other Study ID Numbers: Alpha1-Liver
First Posted: October 11, 2016    Key Record Dates
Last Update Posted: May 31, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Alpha 1-Antitrypsin Deficiency
Liver Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Subcutaneous Emphysema
Emphysema
Pathologic Processes
Alpha 1-Antitrypsin
Protein C Inhibitor
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action