NCT05954416

Brief Summary

The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this objective :

  1. 1.an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment.
  2. 2.a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.

Trial Health

77
On Track

Trial Health Score

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

Enrollment
900

participants targeted

Target at P75+ for all trials

Timeline
11mo left

Started Mar 2018

Longer than P75 for all trials

Geographic Reach
1 country

15 active sites

Status
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 Progress91%
Mar 2018Mar 2027

Study Start

First participant enrolled

March 7, 2018

Completed
5.3 years until next milestone

First Submitted

Initial submission to the registry

June 26, 2023

Completed
24 days until next milestone

First Posted

Study publicly available on registry

July 20, 2023

Completed
3.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 7, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 7, 2027

Last Updated

February 12, 2026

Status Verified

February 1, 2026

Enrollment Period

9 years

First QC Date

June 26, 2023

Last Update Submit

February 10, 2026

Conditions

Outcome Measures

Primary Outcomes (1)

  • Individual burden score for each selected rare disease

    Before 16 years old, we will focus on the burden of families. After 16 years old, the patient's parent will continue to answer to the family Burden questionnaire and the patient will start to answer to the adult's Burden questionnaire.

    Through study completion, an average of 5 years

Secondary Outcomes (7)

  • Description of calculated scores based on widely used survey completed by patients

    Through study completion, an average of 5 years

  • Description of calculated scores based on widely used survey completed by parents

    Through study completion, an average of 5 years

  • Description of variations of quality-of-life scores.

    Through study completion, an average of 5 years

  • Validation of the clinical severity score for disease which have none at the beginning of the study and description of clinical severity score.

    Through study completion, an average of 5 years

  • Descriptive analysis of the socio-economic Burden.

    Through study completion, an average of 5 years

  • +2 more secondary outcomes

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

This study concerns patients affected by one the 9 following rare skin diseases: Inherited epidermolysis bullosa, ichthyosis, ectodermal dysplasia, Incontinentia Pigmenti, neurofibromatosis type 1, albinism, pemphigus, mucous membrane pemphigoid, and palmoplantar keratoderma recruited and followed in a reference/competence centre of the healthcare network of rare dermatologic diseases, FIMARAD.

You may qualify if:

  • adults or children with a confirmed diagnosis of one of the 9 following rare skin disease: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinetia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid or Palmoplantar keratoderma.
  • prevalent or incident and followed in one the reference/competence centers of the FIMARAD healthcare network,
  • able to understand a survey (for child, survey should be understood by parents),
  • having given their signed consent to participate to the cohort RaDiCo-FARD (parents' consent for child).
  • Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites,
  • Unconfirmed diagnosis (according to criteria for each disease),
  • Patients (and/or parents) not able to understand a survey
  • Patients (and/or parents) not having given their signed consent to participate to the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

Hôpital Avicenne

Bobigny, France

NOT YET RECRUITING

Hôpital des Enfants - Groupe Hospitalier Pellegrin

Bordeaux, France

NOT YET RECRUITING

Hôpital des Enfants - Groupe Hospitalier Pellegrin

Bordeaux, France

NOT YET RECRUITING

Hôpital Henri-Mondor

Créteil, France

NOT YET RECRUITING

Hôpital François Mitterrand

Dijon, France

NOT YET RECRUITING

Hôpital Dupuytren

Limoges, France

NOT YET RECRUITING

Hôpital de la Timone

Marseille, France

NOT YET RECRUITING

Hôpital Saint-Eloi

Montpellier, France

NOT YET RECRUITING

Hôpital l'Archet

Nice, France

RECRUITING

Hôpital Necker-Enfants Malades

Paris, France

RECRUITING

Hôpital Saint-Louis

Paris, France

RECRUITING

Hôpital Robert-Debré

Reims, France

NOT YET RECRUITING

Hôpital Charles Nicolle

Rouen, France

RECRUITING

Hôpital Larrey

Toulouse, France

RECRUITING

Hôpital Trousseau

Tours, France

RECRUITING

MeSH Terms

Conditions

IchthyosisEctodermal DysplasiaIncontinentia PigmentiNeurofibromatosis 1AlbinismPemphigusPemphigoid, Benign Mucous MembraneKeratoderma, Palmoplantar

Condition Hierarchy (Ancestors)

Skin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesInfant, Newborn, DiseasesKeratosisSkin DiseasesSkin and Connective Tissue DiseasesAbnormalities, MultipleSkin Diseases, GeneticGenetic Diseases, InbornPigmentation DisordersNeurofibromatosesNeurofibromaNerve Sheath NeoplasmsNeoplasms, Nerve TissueNeoplasms by Histologic TypeNeoplasmsNeoplastic Syndromes, HereditaryNeurocutaneous SyndromesNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPeripheral Nervous System DiseasesNeuromuscular DiseasesEye Diseases, HereditaryEye DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsHypopigmentationMetabolic DiseasesNutritional and Metabolic DiseasesSkin Diseases, VesiculobullousAutoimmune DiseasesImmune System DiseasesConjunctival Diseases

Study Officials

  • Christine BODEMER

    INSERM UMR 1163

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 26, 2023

First Posted

July 20, 2023

Study Start

March 7, 2018

Primary Completion (Estimated)

March 7, 2027

Study Completion (Estimated)

March 7, 2027

Last Updated

February 12, 2026

Record last verified: 2026-02

Locations