Assessing the burden of rare skin diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to evaluate the individual burden of nine rare skin diseases, including Inherited Epidermolysis Bullosa and Neurofibromatosis Type 1, by assessing various aspects of disability such as psychological, social, economic, and physical impacts on patients and their families. Participants will complete a specially designed burden questionnaire for self-assessment, and a descriptive analysis will be conducted on the resources utilized by families to manage these conditions. The study will involve both adults and children diagnosed with these diseases who are receiving care at designated healthcare centers.

Why it matters

Who can join: the full rules

Inclusion criteria :

* 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,
* 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

Where it's running

• Hôpital l'Archet
  Nice, France Recruiting
• Hôpital Necker-Enfants Malades
  Paris, France Recruiting
• Hôpital Saint-Louis
  Paris, France Recruiting
• Hôpital Charles Nicolle
  Rouen, France Recruiting
• Hôpital Larrey
  Toulouse, France Recruiting
• Hôpital Trousseau
  Tours, France Recruiting

Study contacts

• Principal investigator: Christine BODEMER — Inserm Umr 1163
• Study coordinator: Christine BODEMER
• Email: christine.bodemer@aphp.fr
• Phone: + 33 1 44 49 46 72

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding reproductive counseling for patients with skin genetic disorders

  This study is trying to understand how people with skin genetic disorders and their partners make decisions about having children, while also looking at what doctors know and think about these choices.

  Recruiting Maastricht University Medical Center · Maastricht, Limburg · NCT06330350

• 3-D printed versus conventional overdentures for people with ectodermal dysplasia

  This project will test whether 3-D printed overdentures provide better fit, comfort, and satisfaction than conventional acrylic overdentures for people aged 10–35 with ectodermal dysplasia who have some remaining upper teeth.

  Recruiting Cairo University · Cairo · NCT07468019

• How common NF1 is in Egypt and how it progresses and is treated

  This project will look at people in Egypt with neurofibromatosis type 1 to see how common it is, what symptoms they have, how it changes over time, and how it is managed.

  Recruiting at 5 sites AstraZeneca · Al Mansurah and 8 other locations · NCT07221331

• Assessing appearance concerns in Neurofibromatosis Type 1 patients

  This study is trying to understand how appearance-related concerns affect people with Neurofibromatosis Type 1 by gathering their thoughts and experiences through questionnaires and discussions.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT06880991

• Evaluating HLX-1502 for Neurofibromatosis Type 1

  This study is testing a new treatment called HLX-1502 to see if it can help adults with Neurofibromatosis Type 1 who have growing or painful tumors.

  Recruiting at 14 sites Phase 2 Healx Limited · Birmingham, Alabama and 13 other locations · NCT06541847

• Pupillometry to measure pain and sensory problems in people with NF1

  This study will test whether the AlgometRx Nociometer, a pupillometry device, can measure pain and other sensory problems in children and adults with NF1.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Washington D.C., District of Columbia and 1 other locations · NCT06507748

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.