Biomarkers Of Lung InVolvement In ASMD

NCT05914727 | Unknown

• 1 other identifier: 2020_298#B2021154
• Study Type: interventional
• Target: 68
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this study is to characterize ASMD patients' breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes, fibrotic processes or sphingolipid accumulation in the lungs. Participants will be provided exhaled breath samples in three ways (breath profile, volatile compounds and condensate). ASMD patients will be compared to age- and sex-matched healthy controls.

Conditions

Asmd, Visceral Type

Outcome Measures

Primary Outcomes (1)

• Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath

  Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath of ASMD patients. Since this is an explorative study these markers cannot be defined in advance.

  1 year

Secondary Outcomes (1)

• Biomarkers with monitoring or prognostic value in ASMD

  10 years

Study Arms (2)

ASMD patients

OTHER

ASMD patients

Diagnostic Test: eNose; Diagnostic Test: Volatile exhaled breath sample; Diagnostic Test: Condensate sample

Healthy controls

OTHER

Healthy controls

Diagnostic Test: eNose; Diagnostic Test: Volatile exhaled breath sample; Diagnostic Test: Condensate sample

Interventions

eNose DIAGNOSTIC_TEST

Collection of breath profile with eNose

ASMD patients; Healthy controls

Volatile exhaled breath sample DIAGNOSTIC_TEST

Collection of exhaled breath in Tedlar bag

ASMD patients; Healthy controls

Condensate sample DIAGNOSTIC_TEST

Collection of exhaled breath condensate with EcoScreen

ASMD patients; Healthy controls

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients:
• The patient has a biochemical and genetically confirmed diagnosis of the chronic visceral subtype of ASMD
• The patient is willing and able to provide written informed consent prior to the study-related procedure.
• The patient is ≥ 12 years of age
• Healthy controls:
• The individual is willing and able to provide written informed consent prior to the study-related procedure
• The individual is ≥ 16 years of age
• General good health as determined by medical history

You may not qualify if:

• Patients:
• Inability to adhere to the study protocol
• When a patient is not able to complete a spirometry test, the eNose sample will not be collected.
• Healthy controls:
• Medical history of (systemic) disease for which medication was necessary
• Inability to adhere to the study protocol

Sponsors & Collaborators

• Eline C. B. Eskes: lead

Study Sites (1)

Amsterdam UMC

Amsterdam, North Holland, 1105 AZ, Netherlands

RECRUITING

MeSH Terms

Conditions

Niemann-Pick Disease, Type B

Condition Hierarchy (Ancestors)

Niemann-Pick Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Carla EM Hollak, MD, PhD, prof

  Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Eline CB Eskes, MD

CONTACT

003125669111; e.c.eskes@amsterdamumc.nl

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: MD

Model Details: This study comprises a cross-sectional case-control part and a prospective cohort part. In the cross-sectional part, exhaled breath samples with volatile and non-volatile compounds of ASMD patients and healthy controls will be collected. After potential biomarkers are identified in the cross-sectional part, patients will enter the longitudinal part in which the prognostic and monitoring value of these markers will be evaluated using clinical parameters.

Study Record Dates

• First Submitted: June 6, 2023
• First Posted: June 22, 2023
• Study Start: December 5, 2022
• Primary Completion: April 1, 2024
• Study Completion: September 1, 2024
• Last Updated: June 22, 2023

Record last verified: 2023-06

Locations

NL (1)