Inherited Epidermolysis BullosaFARDNCT05954416
FARD (RaDiCo Cohort) (RaDiCo-FARD)
An observational study of Inherited Epidermolysis Bullosa and Ichthyosis, run by Institut National de la Santé Et de la Recherche Médicale, France at 15 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia
- How many people
- 900 participants
- Where
- 15 sitesFrance
- Study dates
- 7 Mar 2018to 7 Mar 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
- Non-inclusion criteria :
- Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites,
Show all 9Show fewer
- 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
Who cannot join
None listed.
Trial locations and contacts
15 sites in 1 country. Contact the study team or a site near you to ask about taking part.
15 sites in 1 country
France15 sites, 15 recruiting
- Not yet recruiting
Hôpital Avicenne
Bobigny
Catherine PROST
- Not yet recruiting
Hôpital des Enfants - Groupe Hospitalier Pellegrin
Bordeaux
Christine LEAUTE-LABREZE
- Not yet recruiting
Hôpital des Enfants - Groupe Hospitalier Pellegrin
Bordeaux
Marie-Sylvie DOUTRE
- Not yet recruiting
Hôpital Henri-Mondor
Créteil
Pierre WOLKENSTEIN
- Not yet recruiting
Hôpital François Mitterrand
Dijon
Pierre VABRE
- Not yet recruiting
Hôpital Dupuytren
Limoges
Christophe BEDANE
- Not yet recruiting
Hôpital de la Timone
Marseille
Marie-Aleth RICHARD
- Not yet recruiting
Hôpital Saint-Eloi
Montpellier
Didier BESSIS
- Recruiting
Hôpital l'Archet
Nice
Christine CHIAVERINI
- Recruiting
Hôpital Necker-Enfants Malades
Paris
Christine BODEMER
- Recruiting
Hôpital Saint-Louis
Paris
Emmanuelle BOURRAT
- Not yet recruiting
Hôpital Robert-Debré
Reims
Philippe BERNARD
- Recruiting
Hôpital Charles Nicolle
Rouen
Pascal JOLY
- Recruiting
Hôpital Larrey
Toulouse
Juliette MAZEREEUW-HAUTIER
- Recruiting
Hôpital Trousseau
Tours
Annabel MARUANI
About this study
Official title: National Cohort for Evaluation of the Burden of Rare Skin Diseases
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 :
- 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.
- a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti, Neurofibromatosis Type 1, Albinism
- Medical subject headings
- Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti, Neurofibromatosis 1, Albinism, Pemphigus, Pemphigoid, Benign Mucous Membrane, Keratoderma, Palmoplantar
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Through study completion, an average of 5 years
Secondary outcomes (7)
Description of calculated scores based on widely used survey completed by patients
Measured: Through study completion, an average of 5 years
Description of calculated scores based on widely used survey completed by parents
Measured: Through study completion, an average of 5 years
Description of variations of quality-of-life scores.
Measured: 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.
Measured: Through study completion, an average of 5 years
Descriptive analysis of the socio-economic Burden.
Measured: Through study completion, an average of 5 years
Descriptive analysis of the Individual Health Care Cost.
Measured: Through study completion, an average of 5 years
Search for association between individual burden score and clinical severity of the disease.
Measured: Through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2023
- Study start7 Mar 2018
- Primary completion7 Mar 2027 (estimated)
- Study completion7 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Epidermolysis BullosaStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 900 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Christine BODEMER, Principal investigator, INSERM UMR 1163
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05954416
- Sponsor's protocol ID
- C16-78
- Acronym
- FARD
- Status last verified
- Feb 2026
- First submitted
- 26 Jun 2023
- Last updated
- 12 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Cohort for Evaluation of the Burden of Rare Skin Diseases
- ClinicalTrials.gov ID
- NCT05954416
- Acronym / sponsor ID
- FARD / C16-78
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti, Neurofibromatosis Type 1, Albinism
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 900 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 7 Mar 2018 (actual)
- Primary completion
- 7 Mar 2027 (estimated)
- Study completion
- 7 Mar 2027 (estimated)
- First posted
- 20 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 :
- 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.
- a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (9 listed)
- 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,
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Individual burden score for each selected rare disease
Time frame: Through study completion, an average of 5 years
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.
7 secondary outcomes
Description of calculated scores based on widely used survey completed by patients
Time frame: Through study completion, an average of 5 years
Description of calculated scores based on widely used survey completed by parents
Time frame: Through study completion, an average of 5 years
Description of variations of quality-of-life scores.
Time frame: 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.
Time frame: Through study completion, an average of 5 years
Descriptive analysis of the socio-economic Burden.
Time frame: Through study completion, an average of 5 years
Descriptive analysis of the Individual Health Care Cost.
Time frame: Through study completion, an average of 5 years
Search for association between individual burden score and clinical severity of the disease.
Time frame: Through study completion, an average of 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Christine BODEMER principal investigator
INSERM UMR 1163
15 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Epidermolysis Bullosa and Ichthyosis, run by Institut National de la Santé Et de la Recherche Médicale, France at 15 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 12 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Christine BODEMER (+ 33 1 44 49 46 72, christine.bodemer@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Individual burden score for each selected rare disease (time frame: Through study completion, an average of 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Feb 2026.