ClinicalTrials.gg
Sign In
RecruitingNCT06778174TreatFICUpdated Jan 24, 2025

Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)

An observational study in Progressive Familial Intrahepatic Cholestasis, sponsored by University Medical Center Groningen. Recruiting at 1 site in Netherlands. Per ClinicalTrials.gov, last updated 2025-01-24.

Sponsored by University Medical Center Groningen · Observational

From the registry’s dates

  • Started Feb 2023; still recruiting 3 years 9 months later.

Help build ClinicalTrials.gg — short surveys, remote interviews or testing, in your language. Take part →

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
200
Sex
All
01

Study summary

The project has the following general aims:

  1. Natural course and prognosis: To prospectively follow the natural course and prognosis of the different types of PFIC, to broaden the understanding of the different very rare diseases and to allow predictions about the course of disease in different types of PFIC.
  2. Efficacy: To define the course of disease in FIC patients and identify associations with different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy. The course of disease will be characterized by biochemical, clinical and surgical parameters, including liver transplantation.
  3. Safety: To define the complications associated with the different treatments (symptomatic treatments, interruption of the enterohepatic circulation by surgical or medical means and other therapies such as corrector/potentiator or exon skipping therapy, liver transplantation). Follow up will be as long as possible.
  4. (Surrogate) biomarker response: Biochemical parameters will be longitudinally collected and associated with changes in treatments / course of disease.
  5. Genotype-phenotype relationships: If patient numbers permit, to establish genotype-phenotype relationships for (non)responsiveness towards different treatments in patients with genetic mutations causing the different forms of FIC disease.
02

Conditions studied

  • Progressive Familial Intrahepatic Cholestasis

Keywords

  • PFIC
  • ASBT
  • IBAT
  • biliary diversion
  • liver transplantation
03

In context

Cholestasis, progressive familial intrahepatic 1

33 studies on the registry are indexed under Cholestasis, progressive familial intrahepatic 1; 13 are open to participants now.

This study's planned enrollment of 200 is close to the median of 200 across 17 observational studies indexed under Cholestasis, progressive familial intrahepatic 1.

Browse Cholestasis, progressive familial intrahepatic 1 studies →

Lead sponsor

University Medical Center Groningen is the lead sponsor of 627 studies on the registry; 175 are open to participants now.

Browse University Medical Center Groningen studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

The diagnosis of a PFIC type disease needs to be performed according to the international guidelines, based on (episodes with a) low gamma-GT cholestasis and identification of disease-causing mutations in the indicated genes.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Genetically confirmed cases of a PFIC type disease: FIC1 deficiency, BSEP deficiency, MDR3 deficiency, TJP2 deficiency, FXR deficiency, SLC51A deficiency, USP53 deficiency, KIF12 deficiency, ZFYE19 deficiency, MYO5B deficiency, SEMA7A deficiency, VPS33B deficiency, PSKH1 deficiency.

Exclusion criteria

Exclusion Criteria:

  • Cases with suspected PFIC type disease, but without genetic testing data available.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
200 participants (estimated)
Patient registry
No

Groups and cohorts

  • FIC1-deficiency

    genetically proven deficiency of FIC1 (FIC1). Disease is also known as PFIC1.

    Other: observational study

  • BSEP-deficiency

    genetically proven deficiency of Bile Salt Export Pump (BSEP, ABCB11). Disease is also known as PFIC2.

    Other: observational study

  • MDR3-deficiency

    genetically proven deficiency of Multi Drug Resistance protein type 3 (MDR3, ABCB4). Disease is also known as PFIC3.

    Other: observational study

  • Other genetic subtypes of Familiai Intrahepatic Cholestasis

    TJP2 deficiency (TJP2), FXR deficiency (NR1H4), SLC51A deficiency (SLC51A), USP53 deficiency (USP53), KIF12 deficiency (KIF12), ZFYE19 deficiency (ZFYVE19), MYO5B deficiency (MYO5B), SEMA7A deficiency (SEMA7A), VPS33B deficiency, (VPS33B), PSKH1 deficiency (PSKH1)

    Other: observational study

Interventions

  • Otherobservational study

    The interventions are not determined by the study, which is purely observational on "real world data".

    Also known as: natural history, surgical biliary diversion, liver transplantation, IBAT-inhibition

06

What researchers measure

Primary outcomes

  1. Number of participants with liver transplantation

    The number (percentage) of patients undergoing liver transplantation related to the age of the patient

    Time frame: at 5, 10, 15 and 18 years of age, as well as >18 years of age

Secondary outcomes

  1. Number of participants that succumbed

    Mortality related to age of the patient

    Time frame: at 5, 10, 15 and 18 years of age, as well as >18 years of age

Other outcomes

  1. Number of participant undergoing a surgical biliary diversion

    Number of participant undergoing a surgical biliary diversion related to age

    Time frame: at 5, 10, 15 and 18 years of age, as well as >18 years of age

07

Study locations

1 of 1 sites recruiting
08

References and documents

Publications

  • Felzen A, Verkade HJ. The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments. Eur J Med Genet. 2021 Nov;64(11):104317. doi: 10.1016/j.ejmg.2021.104317. Epub 2021 Aug 31. PubMed 34478903 ↗
  • Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Munoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz O, Kerkar N, Jorgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. PubMed 36687469 ↗
  • van Wessel DBE, Gonzales E, Hansen BE, Verkade HJ. Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative. Eur J Med Genet. 2021 Jul;64(7):104245. doi: 10.1016/j.ejmg.2021.104245. Epub 2021 May 13. PubMed 33991701 ↗
  • van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Munoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz O, Kerkar N, Horby Jorgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. PubMed 33666275 ↗
  • van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Bjorn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Munoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz O, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. Genotype correlates with the natural history of severe bile salt export pump deficiency. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. PubMed 32087350 ↗

Individual participant data

Plan to share: No — Ownership of individal patient data will remain in the hands of the participating centers.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Feb 2023 (actual). Primary completion is estimated for Feb 2028, 60 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Jan 10, 2025
First posted
Jan 16, 2025
StartActual
Feb 9, 2023
Primary completionEst.
Feb 2028
CompletionEst.
Dec 2033
Last update
Jan 24, 2025
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jan 24, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT06778174
Lead sponsor
University Medical Center Groningen
Responsible party
Prof. Dr. Henkjan J. Verkade (Pediatric hepatologist, Professor of pediatrics, University Medical Center Groningen) — Principal investigator
First posted
Jan 16, 2025
Start date
Feb 9, 2023
Primary completion
Feb 2028 (estimated)
Completion
Dec 2033 (estimated)
Last update
Jan 24, 2025

Study contacts

Henkjan J Verkade, MD, PhD, Professor
Contact
h.j.verkade@umcg.nl; pfic@bkk.umcg.nl
31-50-3614147
Willem S Lexmond, MD, PhD
Contact
w.s.lexmond@umcg.nl
31-50-3614147

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Interested in this study?

Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.

Contact study team

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Other studies in this condition

Cholestasis, progressive familial intrahepatic 1 →

Other studies from this sponsor

University Medical Center Groningen →

Start the discussion