Osmotic Fragility in Red Blood Cells of Pediatric Patients With Cholestatic Liver Disease

NCT05582447 | Active Not Recruiting

• 1 other identifier: 2018-0310
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Objective: The investigators propose to perform ektacytometry on 20 pediatric patients over age one with cholestatic liver diseases and a direct bilirubin level of greater than 2 gm/dl. The most common diagnoses will be extrahepatic biliary atresia, progressive familial intrahepatic cholestasis, Alagille syndrome, autoimmune hepatitis, primary sclerosing cholangitis, and parenteral nutrition-associated cholestasis. The investigators will correlate the osmotic fragility and deformability with direct bilirubin levels, serum cholesterol levels, serum bile acid levels, and vitamin E levels. Design/Methods: This pilot study will be a single center, prospective cross-sectional investigation of red blood cell ektacytometry in pediatric patients with extrahepatic cholestasis who are followed at Cincinnati Children's Hospital Medical Center. The study will include all participants with cholestasis regardless of the etiology in order to maximize the number of participants. While the population will be heterogeneous, the investigators will stratify participants according to diagnosis, recognizing that only a few participants may fall into each diagnostic category. Ektacytometry will be the method utilized to measure osmotic fragility and deformability of the RBC membrane. The ektacytometry of red cells from cholestatic patients will be compared to that of red cells obtained from contemporaneous age-matched controls recruited among patients without liver disease or red cell membrane defects undergoing blood sampling for evaluation of other entities including but not confined to functional abdominal pain.

Conditions

Cholestasis; Red Cell Membrane and Enzyme Abnormalities

Keywords

osmotic fragility

Outcome Measures

Primary Outcomes (3)

• Red blood cell osmotic fragility

  Omin of osmotic fragility

  1 year

• Red blood cell deformity

  EImax to measure deformity of red blood cells Ohyp measures index of red cell hydration

  1 year

• Red blood cell hydration

  Ohyp to measure index of red cell hydration

  1 year

Study Arms (2)

Disease Cohort

Age greater than one year old Direct bilirubin level of \>2 mg/dl. No known congenital red cell membrane defect

Other: ektacytometry of red blood cells

Control

Age matched to disease cohort No evidence for cholestatic liver disease No known congenital red cell membrane defect

Other: ektacytometry of red blood cells

Interventions

ektacytometry of red blood cells OTHER

Evaluate red blood cell membrane mechanical characteristics by osmotic gradient ektacytometry

Control; Disease Cohort

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be recruited from Cincinnati Children's Hospital hepatology and gastroenterology clinics. Pediatric patients over age one without cholestatic liver disease and pediatric patients over the age of one with cholestatic liver diseases and a direct bilirubin level of greater than 2 gm/dl.

You may qualify if:

• Disease Cohort
• Age greater than one year old
• Direct bilirubin level of \>2 mg/dl.
• No known congenital red cell membrane defect
• Controls
• Age matched to disease cohort
• No evidence for cholestatic liver disease
• No known congenital red cell membrane defect

You may not qualify if:

• Disease Cohort
• Parental refusal
• Age \<1 year old.
• Known congenital red cell membrane defect
• Controls
• Parental refusal
• Age \<1 year old.
• Known congenital red cell membrane defect
• Cholestatic liver disease

Sponsors & Collaborators

• Children's Hospital Medical Center, Cincinnati: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Related Publications (1)

• Kocoshis TS, Kalfa TA, Miethke AG, Balistreri WF, Seu KG, Slaughter CG, Singh R, Mullen M, Kocoshis SA. Red cell abnormalities characterized by ektacytometry in children with cholestasis. Pediatr Res. 2024 Mar;95(4):1035-1040. doi: 10.1038/s41390-023-02899-2. Epub 2023 Dec 1.

  PMID: 38040987 DERIVED

MeSH Terms

Conditions

Cholestasis

Condition Hierarchy (Ancestors)

Bile Duct Diseases; Biliary Tract Diseases; Digestive System Diseases

Study Officials

• Samuel A Kocoshis, MD

  Children's Hospital Medical Center, Cincinnati

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 10, 2022
• First Posted: October 17, 2022
• Study Start: April 17, 2018
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2027
• Last Updated: February 6, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)