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Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa

This study is currently recruiting participants.
See Contacts and Locations
Verified May 2017 by Amicus Therapeutics
Information provided by (Responsible Party):
Amicus Therapeutics Identifier:
First received: May 10, 2017
Last updated: May 16, 2017
Last verified: May 2017

This survey intends to collect information on key aspects of life with epidermolysis bullosa (EB), including diagnostic journey, treatment, management, daily living challenges, and overall psycho-social, socio-economic, academic and family impact.


  • To understand the unmet needs for people living with EB in the US
  • To assess the differences/similarities in the management/treatment of EB patients (including wound care, symptom management and other issues)
  • To assess the EB patients' and caregivers' perceptions of current management/treatment
  • To assess the challenges and the burden of daily living with EB
  • To understand EB diagnostic journey (the time to diagnosis and by what type of healthcare provider)
  • To identify professional disciplines involved in the diagnosis and management of EB
  • To understand the psycho-social, socio-economic, academic, and family impact of EB

Condition Intervention
Epidermolysis Bullosa Other: Survey

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Survey to Identify Burdens and Unmet Needs of EB Patients in the US

Resource links provided by NLM:

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:
  • Current quality of life burdens for EB patients [ Time Frame: Outcome will be assessed immediately after subjects answer the questionnaire as this is a cross-sectional survey ]

Estimated Enrollment: 200
Actual Study Start Date: April 2, 2017
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
Intervention Details:
    Other: Survey
    Survey Study
Detailed Description:

Epidermolysis bullosa (EB) is a rare, often severe genetic disorder characterized by mechanical fragility and blistering or erosion of the skin, mucosa, or epithelial lining of other organs, in response to little or no apparent trauma.

EB is chronic, potentially disfiguring, and in some cases fatal. Patients with EB have painful wounds and blisters that can lead to infection and scarring. There are many genetic and symptomatic variations of EB, but all forms share the common symptom of fragile skin that blisters and tears, sometimes from the slightest friction or trauma. There is currently no approved treatment for EB. Current standard of care consists of pain management and the bandaging and cleaning of open wounds to prevent infection.

While there are a number of publications/guidance/consensus statements related to the diagnosis and management of EB from the point of view of the health-care provider/disease expert, there is a need for more research to define the key aspects of life with EB (i.e. diagnostic journey, treatment, management, daily living challenges, and overall disease burden) from the perspective of the patient.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
EB Patients 18 years of age or older or caregivers of patients under 18 years of age

Inclusion Criteria:

  • Confirmed diagnosis of EB including subtype
  • Resident of the US
  • Informed Consent
  • Patient must be 18 years or older
  • If the survey is done by a caregiver, they must be a parent or legal guardian and must be 18 years or older to answer on behalf of a patient under 18 years or on behalf of a patient 18 years or older who is unable to answer for themselves.
  • Must participate in and complete a one hour telephone interview

Exclusion Criteria:

  • Patient failing to meet the inclusion criteria above
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT03158662

United States, New Jersey
Amicus Therapeutics Recruiting
Cranbury, New Jersey, United States, 08512
Contact: Patti Engel, BSN    651-994-0510   
Sponsors and Collaborators
Amicus Therapeutics
  More Information

Responsible Party: Amicus Therapeutics Identifier: NCT03158662     History of Changes
Other Study ID Numbers: EB Survery 2017
Study First Received: May 10, 2017
Last Updated: May 16, 2017

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Amicus Therapeutics:
Epidermolysis Bullosa
Recessive Dystrophic
Junctional Non-Herlitz

Additional relevant MeSH terms:
Epidermolysis Bullosa
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous processed this record on August 22, 2017