NCT07015060

Brief Summary

Identify rare variants in candidate genes and pathways identified in familial SSc, in patients with sporadic SSc. Perform (spatial) transcriptomic and proteomic analyses of affected skin from patients with and without cutaneous fibrosis, for the patterns and levels of expression/activation of candidate genes and pathways. Test for dysregulation of expression/activation of candidate genes and pathways in live cells isolated from the blood and skin biopsy of patients, and for the impact of these dysregulations on cell appearance, behavior and function.

Trial Health

65
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
15

participants targeted

Target at below P25 for not_applicable

Timeline
59mo left

Started Jun 2025

Longer than P75 for not_applicable

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress16%
Jun 2025Mar 2031

First Submitted

Initial submission to the registry

May 22, 2025

Completed
10 days until next milestone

Study Start

First participant enrolled

June 1, 2025

Completed
10 days until next milestone

First Posted

Study publicly available on registry

June 11, 2025

Completed
5.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2030

Expected
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2031

Last Updated

June 11, 2025

Status Verified

June 1, 2025

Enrollment Period

5.3 years

First QC Date

May 22, 2025

Last Update Submit

June 2, 2025

Conditions

Scleroderma (Limited and Diffuse)

Outcome Measures

Primary Outcomes (1)

  • Identify rare variants in candidate genes and pathways in SSC patients (blood and skin biopsy)

    Genetic analyses in affected skin from patients (Next Generation sequencing, (single cell) RNASeq, real time qPCR)

    Through the entire study, approximately during 5 years

Study Arms (1)

PathSSc

OTHER
Procedure: cutaneous biospy

Interventions

cutaneous biospyPROCEDURE

cutaneous biospy

PathSSc

Eligibility Criteria

Age18 Years - 80 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Patients diagnosed with one of the following:
  • Limited SSc
  • Limited cutaneous SSc
  • Diffuse cutaneous SSc
  • Patients followed regularly in consultations at CUSL.
  • Patients between ages 18-80.

You may not qualify if:

  • Other (co-occurring) autoimmune/autoinflammatory disease
  • Pregnancy
  • Participants with temporary or definitive disabilities to give consent
  • Participants unable to sign or read the inform consent form

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Scleroderma, Diffuse

Condition Hierarchy (Ancestors)

Scleroderma, SystemicConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin Diseases

Study Officials

  • Nisha Limaye, PhD

    Université Catholique de Louvain

    STUDY DIRECTOR

Central Study Contacts

Farah Tamirou, Pr

CONTACT

+32 2 674 53 87farah.tamirou@saintluc.uclouvain.be

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 22, 2025

First Posted

June 11, 2025

Study Start

June 1, 2025

Primary Completion (Estimated)

September 1, 2030

Study Completion (Estimated)

March 1, 2031

Last Updated

June 11, 2025

Record last verified: 2025-06

Data Sharing

IPD Sharing
Will not share