<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03016715</url>
  </required_header>
  <id_info>
    <org_study_id>2016-05-413</org_study_id>
    <nct_id>NCT03016715</nct_id>
  </id_info>
  <brief_title>Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study</brief_title>
  <official_title>A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Premier Specialists, Australia</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Premier Specialists, Australia</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      : Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA&#xD;
      leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong&#xD;
      painful thick soles on their feet, and current standard of care is supportive. This pilot&#xD;
      study will target the dominant mutant keratin proteins in the skin to ameliorate the severity&#xD;
      of EB simplex. The purpose is to improve the function of EB simplex feet with an application&#xD;
      of topical sirolimus, 2%. The investigators plan on inhibiting the mTOR pathway to down&#xD;
      regulate the translation of defective keratin proteins and work through anti proliferative&#xD;
      pathways.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The proposed 40 week pilot study being conducted is a prospective, double-blind, randomized,&#xD;
      placebo-controlled crossover study. Participants will be assigned to treat both feet with&#xD;
      either topical sirolimus, 2% cream daily or placebo (vehicle-control) for 12 weeks, followed&#xD;
      by a 4 week washout period, then re-treatment to both feet will occur by the cross-over&#xD;
      intervention.&#xD;
&#xD;
      These studies will exploit the naturally occurring transcriptional regulation of keratin&#xD;
      sequences, the known gene aberration causing EB simplex, and assess the potential for mTOR&#xD;
      pathway inhibition in treatment of the patient's plantar lesions. The objective of this study&#xD;
      is to assess (1) the safety of topical rapamycin for plantar lesions for the treatment of EB&#xD;
      simplex, and 2) test if topical rapamycin to improves the clinical severity of lesional skin,&#xD;
      including pain and itch, in subjects with EB simplex at the end of treatment versus baseline&#xD;
      and compared to an intrasubject placebo treated control. Wound size measurement, quality of&#xD;
      life evaluation will be assessed using epidermolysis bullosa (QOLEB), and EB disease activity&#xD;
      and Scarring Index (EBDASI). With the results of this pilot study, physicians would be able&#xD;
      to transition from supportive care (the current state of the art for EB simplex) to targeted&#xD;
      molecular therapeutics, leading to improved mobility and quality of life for patients with EB&#xD;
      simplex.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date>May 2016</start_date>
  <primary_completion_date type="Anticipated">June 2019</primary_completion_date>
  <phase>Phase 2</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Randomized</allocation>
    <intervention_model>Crossover Assignment</intervention_model>
    <primary_purpose>Treatment</primary_purpose>
    <masking>Triple (Participant, Care Provider, Investigator)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Foot Health Status Questionnaire</measure>
    <time_frame>Change from Baseline to End of Treatment completion at 32 Week</time_frame>
    <description>Foot function utilizing the validated Foot Health Status Questionnaire (FHSQ) as a change from baseline to the end of each treatment.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>FitBit® / pedometer</measure>
    <time_frame>Baseline and through study treatment completion at 32-weeks]</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Plantar defect size using 3D Photography</measure>
    <time_frame>Change in total defect area from Baseline, clinical visits at Week 4, Week 12, Week 16, Week 28, through study treatment completion at 32-weeks</time_frame>
    <description>Plantar defect size measurements using 3D photography (% change in total defect area) from baseline to the end of each treatment.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Child Dermatological Quality of Life Questionnaire</measure>
    <time_frame>Baseline through study treatment completion at 32 weeks</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) Disease Severity Scale</measure>
    <time_frame>Baseline and through study treatment completion at 32-weeks</time_frame>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Anticipated">8</enrollment>
  <condition>Epidermolysis Bullosa Simplex</condition>
  <condition>Epidermolysis Bullosa Simplex Kobner</condition>
  <condition>Weber-Cockayne Syndrome</condition>
  <arm_group>
    <arm_group_label>Treatment</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Sirolimus, 2% topical ointment will be used during randomization</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Vehicle</arm_group_label>
    <arm_group_type>Placebo Comparator</arm_group_type>
    <description>A placebo topical ointment will be used during randomization.</description>
  </arm_group>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Sirolimus 2%</intervention_name>
    <arm_group_label>Treatment</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Vehicle</intervention_name>
    <arm_group_label>Vehicle</arm_group_label>
    <other_name>Placebo</other_name>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Subjects must:&#xD;
&#xD;
          -  Be capable of understanding the purpose and risks of the study and sign a written&#xD;
             Informed Consent Form (ICF); Legally authorized representative of subjects willing and&#xD;
             able to give consent for children 5-18 yo&#xD;
&#xD;
          -  Be male or female with a diagnosis of EBS&#xD;
&#xD;
          -  Minimum EBDASI feet activity score of 2/10&#xD;
&#xD;
          -  Age - 5 years or older&#xD;
&#xD;
          -  Ability to complete 12 study visits within a 40-week period, each for approximately&#xD;
             30-60 minutes.&#xD;
&#xD;
        Anticipated life expectancy ≥52 weeks&#xD;
&#xD;
          -  Males and females of childbearing potential should be using an effective means of&#xD;
             contraception.&#xD;
&#xD;
          -  Laboratory values within the range of normal for the participating institution unless&#xD;
             the PI feels they are not clinically relevant&#xD;
&#xD;
          -  Be able to comply with all study requirements&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Allergy to sirolimus or components of the vehicle ointment&#xD;
&#xD;
          -  Pregnancy, breast feeding&#xD;
&#xD;
          -  Prior history of liver disease&#xD;
&#xD;
          -  Serious known concurrent medical illness or infection, which could potentially present&#xD;
             a safety risk and/or prevent compliance with the requirements of the treatment&#xD;
             program.&#xD;
&#xD;
          -  Known immunodeficiency virus or syndrome including those with:&#xD;
&#xD;
          -  Acquired Immunodeficiency Syndrome (AIDS)&#xD;
&#xD;
          -  Human Immunodeficiency Virus (HIV)&#xD;
&#xD;
          -  Hepatitis B&#xD;
&#xD;
          -  Prior history of grafting surgeries or other surgeries in the dermatologic treatment&#xD;
             area&#xD;
&#xD;
          -  History of significant condition in the dermatologic treatment area such as trauma,&#xD;
             which could impair evaluation for the treatment of EBS or non-healing chronic wound.&#xD;
&#xD;
          -  Use of other investigational drugs within 30 days of the screening visit and/or has&#xD;
             not recovered from any side effects of prior investigational drugs or procedure in the&#xD;
             affected area (e.g., a biopsy).&#xD;
&#xD;
          -  Use of acitretin within the last 1 month&#xD;
&#xD;
          -  Use of Roaccutane within last 3 months&#xD;
&#xD;
          -  Botox injections to the feet within the last 6 months.&#xD;
&#xD;
          -  Participant is planning extra physical activities within the next 3 months.&#xD;
&#xD;
          -  Amputated foot&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>5 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Dedee F Murrell, MD</last_name>
    <role>Study Chair</role>
    <affiliation>University of New South Wales</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Dedee F Murrell, MD</last_name>
    <email>d.murrell@unsw.edu.au</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Charmaine Peras</last_name>
    <email>premierspecnurse@gmail.com</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Premier Specialists</name>
      <address>
        <city>Sydney</city>
        <state>New South Wales</state>
        <zip>2217</zip>
        <country>Australia</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Charmaine Peras</last_name>
      <phone>61 02 9598 5800</phone>
      <email>premierspecnurse@gmail.com</email>
    </contact>
    <investigator>
      <last_name>Dedee F Murrell, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>Charlotte E Gollins, MBChB</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Anes Yang</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Melissa Radjenovic</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Australia</country>
  </location_countries>
  <reference>
    <citation>Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29.</citation>
    <PMID>24690439</PMID>
  </reference>
  <reference>
    <citation>Fine JD, Johnson LB, Weiner M, Suchindran C. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol. 2004 Mar;29(2):122-7. doi: 10.1111/j.1365-2230.2004.01428.x.</citation>
    <PMID>14987264</PMID>
  </reference>
  <reference>
    <citation>Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004 Nov;204(4):355-66. doi: 10.1002/path.1643.</citation>
    <PMID>15495218</PMID>
  </reference>
  <reference>
    <citation>Castedo M, Ferri KF, Kroemer G. Mammalian target of rapamycin (mTOR): pro- and anti-apoptotic. Cell Death Differ. 2002 Feb;9(2):99-100. doi: 10.1038/sj.cdd.4400978. No abstract available.</citation>
    <PMID>11840159</PMID>
  </reference>
  <reference>
    <citation>Guba M, von Breitenbuch P, Steinbauer M, Koehl G, Flegel S, Hornung M, Bruns CJ, Zuelke C, Farkas S, Anthuber M, Jauch KW, Geissler EK. Rapamycin inhibits primary and metastatic tumor growth by antiangiogenesis: involvement of vascular endothelial growth factor. Nat Med. 2002 Feb;8(2):128-35. doi: 10.1038/nm0202-128.</citation>
    <PMID>11821896</PMID>
  </reference>
  <reference>
    <citation>Fogel AL, Hill S, Teng JM. Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology. J Am Acad Dermatol. 2015 May;72(5):879-89. doi: 10.1016/j.jaad.2015.01.014. Epub 2015 Mar 11.</citation>
    <PMID>25769191</PMID>
  </reference>
  <reference>
    <citation>Raught B, Gingras AC, Sonenberg N. The target of rapamycin (TOR) proteins. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7037-44. doi: 10.1073/pnas.121145898.</citation>
    <PMID>11416184</PMID>
  </reference>
  <reference>
    <citation>Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci. 2009 Nov;56(2):82-8. doi: 10.1016/j.jdermsci.2009.07.008. Epub 2009 Aug 21.</citation>
    <PMID>19699613</PMID>
  </reference>
  <reference>
    <citation>Riskowski JL, Hagedorn TJ, Hannan MT. Measures of foot function, foot health, and foot pain: American Academy of Orthopedic Surgeons Lower Limb Outcomes Assessment: Foot and Ankle Module (AAOS-FAM), Bristol Foot Score (BFS), Revised Foot Function Index (FFI-R), Foot Health Status Questionnaire (FHSQ), Manchester Foot Pain and Disability Index (MFPDI), Podiatric Health Questionnaire (PHQ), and Rowan Foot Pain Assessment (ROFPAQ). Arthritis Care Res (Hoboken). 2011 Nov;63 Suppl 11(0 11):S229-39. doi: 10.1002/acr.20554. No abstract available.</citation>
    <PMID>22588747</PMID>
  </reference>
  <reference>
    <citation>Loh CC, Kim J, Su JC, Daniel BS, Venugopal SS, Rhodes LM, Intong LR, Law MG, Murrell DF. Development, reliability, and validity of a novel Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI). J Am Acad Dermatol. 2014 Jan;70(1):89-97.e1-13. doi: 10.1016/j.jaad.2013.09.041.</citation>
    <PMID>24355263</PMID>
  </reference>
  <reference>
    <citation>Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, Melbourne W, Nelson JA, Sturm M, Fogarty J, Marinkovich MP, Igawa S, Ishida-Yamamoto A, Murrell DF. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2013 Dec;69(6):898-908.e7. doi: 10.1016/j.jaad.2013.08.014. Epub 2013 Sep 24.</citation>
    <PMID>24075228</PMID>
  </reference>
  <reference>
    <citation>Frew JW, Martin LK, Nijsten T, Murrell DF. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol. 2009 Dec;161(6):1323-30. doi: 10.1111/j.1365-2133.2009.09347.x. Epub 2009 Jun 11. Erratum In: Br J Dermatol. 2010 Mar;162(3):701.</citation>
    <PMID>19681875</PMID>
  </reference>
  <reference>
    <citation>Elman S, Hynan LS, Gabriel V, Mayo MJ. The 5-D itch scale: a new measure of pruritus. Br J Dermatol. 2010 Mar;162(3):587-93. doi: 10.1111/j.1365-2133.2009.09586.x. Epub 2009 Dec 1.</citation>
    <PMID>19995367</PMID>
  </reference>
  <reference>
    <citation>Storm FA, Heller BW, Mazza C. Step detection and activity recognition accuracy of seven physical activity monitors. PLoS One. 2015 Mar 19;10(3):e0118723. doi: 10.1371/journal.pone.0118723. eCollection 2015.</citation>
    <PMID>25789630</PMID>
  </reference>
  <verification_date>October 2017</verification_date>
  <study_first_submitted>January 9, 2017</study_first_submitted>
  <study_first_submitted_qc>January 9, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">January 10, 2017</study_first_posted>
  <last_update_submitted>October 22, 2017</last_update_submitted>
  <last_update_submitted_qc>October 22, 2017</last_update_submitted_qc>
  <last_update_posted type="Actual">October 24, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Epidermolysis bullosa simplex</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Cockayne Syndrome</mesh_term>
    <mesh_term>Epidermolysis Bullosa</mesh_term>
    <mesh_term>Epidermolysis Bullosa Simplex</mesh_term>
  </condition_browse>
  <intervention_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Sirolimus</mesh_term>
  </intervention_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03016715
org study id: 2016-05-413
nct id: NCT03016715
lead sponsor: 
has dmc: No
: Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA
      leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong
      painful thick soles on their feet, and current standard of care is supportive. This pilot
      study will target the dominant mutant keratin proteins in the skin to ameliorate the severity
      of EB simplex. The purpose is to improve the function of EB simplex feet with an application
      of topical sirolimus, 2%. The investigators plan on inhibiting the mTOR pathway to down
      regulate the translation of defective keratin proteins and work through anti proliferative
      pathways.
The proposed 40 week pilot study being conducted is a prospective, double-blind, randomized,
      placebo-controlled crossover study. Participants will be assigned to treat both feet with
      either topical sirolimus, 2% cream daily or placebo (vehicle-control) for 12 weeks, followed
      by a 4 week washout period, then re-treatment to both feet will occur by the cross-over
      intervention.

      These studies will exploit the naturally occurring transcriptional regulation of keratin
      sequences, the known gene aberration causing EB simplex, and assess the potential for mTOR
      pathway inhibition in treatment of the patient's plantar lesions. The objective of this study
      is to assess (1) the safety of topical rapamycin for plantar lesions for the treatment of EB
      simplex, and 2) test if topical rapamycin to improves the clinical severity of lesional skin,
      including pain and itch, in subjects with EB simplex at the end of treatment versus baseline
      and compared to an intrasubject placebo treated control. Wound size measurement, quality of
      life evaluation will be assessed using epidermolysis bullosa (QOLEB), and EB disease activity
      and Scarring Index (EBDASI). With the results of this pilot study, physicians would be able
      to transition from supportive care (the current state of the art for EB simplex) to targeted
      molecular therapeutics, leading to improved mobility and quality of life for patients with EB
      simplex.
allocation: Randomized
intervention model: Crossover Assignment
primary purpose: Treatment
masking: Triple (Participant, Care Provider, Investigator)
measure: Foot Health Status Questionnaire
time frame: Change from Baseline to End of Treatment completion at 32 Week
description: Foot function utilizing the validated Foot Health Status Questionnaire (FHSQ) as a change from baseline to the end of each treatment.
measure: FitBit® / pedometer
time frame: Baseline and through study treatment completion at 32-weeks]
measure: Plantar defect size using 3D Photography
time frame: Change in total defect area from Baseline, clinical visits at Week 4, Week 12, Week 16, Week 28, through study treatment completion at 32-weeks
description: Plantar defect size measurements using 3D photography (% change in total defect area) from baseline to the end of each treatment.
measure: Child Dermatological Quality of Life Questionnaire
time frame: Baseline through study treatment completion at 32 weeks
measure: The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) Disease Severity Scale
time frame: Baseline and through study treatment completion at 32-weeks
arm group label: Treatment
arm group type: Experimental
description: Sirolimus, 2% topical ointment will be used during randomization
arm group label: Vehicle
arm group type: Placebo Comparator
description: A placebo topical ointment will be used during randomization.
intervention type: Drug
intervention name: Sirolimus 2%
arm group label: Treatment
intervention type: Drug
intervention name: Vehicle
arm group label: Vehicle
other name: Placebo
criteria: 
gender: All
minimum age: 5 Years
maximum age: N/A
healthy volunteers: No
last name: Dedee F Murrell, MD
role: Study Chair
affiliation: University of New South Wales
last name: Dedee F Murrell, MD
email: d.murrell@unsw.edu.au
last name: Charmaine Peras
email: premierspecnurse@gmail.com
facility: 
status: Recruiting
contact: 
investigator: 
investigator: 
investigator: 
investigator: 
country: Australia
citation: Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29.
PMID: 24690439
citation: Fine JD, Johnson LB, Weiner M, Suchindran C. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol. 2004 Mar;29(2):122-7. doi: 10.1111/j.1365-2230.2004.01428.x.
PMID: 14987264
citation: Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004 Nov;204(4):355-66. doi: 10.1002/path.1643.
PMID: 15495218
citation: Castedo M, Ferri KF, Kroemer G. Mammalian target of rapamycin (mTOR): pro- and anti-apoptotic. Cell Death Differ. 2002 Feb;9(2):99-100. doi: 10.1038/sj.cdd.4400978. No abstract available.
PMID: 11840159
citation: Guba M, von Breitenbuch P, Steinbauer M, Koehl G, Flegel S, Hornung M, Bruns CJ, Zuelke C, Farkas S, Anthuber M, Jauch KW, Geissler EK. Rapamycin inhibits primary and metastatic tumor growth by antiangiogenesis: involvement of vascular endothelial growth factor. Nat Med. 2002 Feb;8(2):128-35. doi: 10.1038/nm0202-128.
PMID: 11821896
citation: Fogel AL, Hill S, Teng JM. Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology. J Am Acad Dermatol. 2015 May;72(5):879-89. doi: 10.1016/j.jaad.2015.01.014. Epub 2015 Mar 11.
PMID: 25769191
citation: Raught B, Gingras AC, Sonenberg N. The target of rapamycin (TOR) proteins. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7037-44. doi: 10.1073/pnas.121145898.
PMID: 11416184
citation: Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci. 2009 Nov;56(2):82-8. doi: 10.1016/j.jdermsci.2009.07.008. Epub 2009 Aug 21.
PMID: 19699613
citation: Riskowski JL, Hagedorn TJ, Hannan MT. Measures of foot function, foot health, and foot pain: American Academy of Orthopedic Surgeons Lower Limb Outcomes Assessment: Foot and Ankle Module (AAOS-FAM), Bristol Foot Score (BFS), Revised Foot Function Index (FFI-R), Foot Health Status Questionnaire (FHSQ), Manchester Foot Pain and Disability Index (MFPDI), Podiatric Health Questionnaire (PHQ), and Rowan Foot Pain Assessment (ROFPAQ). Arthritis Care Res (Hoboken). 2011 Nov;63 Suppl 11(0 11):S229-39. doi: 10.1002/acr.20554. No abstract available.
PMID: 22588747
citation: Loh CC, Kim J, Su JC, Daniel BS, Venugopal SS, Rhodes LM, Intong LR, Law MG, Murrell DF. Development, reliability, and validity of a novel Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI). J Am Acad Dermatol. 2014 Jan;70(1):89-97.e1-13. doi: 10.1016/j.jaad.2013.09.041.
PMID: 24355263
citation: Venugopal SS, Yan W, Frew JW, Cohn HI, Rhodes LM, Tran K, Melbourne W, Nelson JA, Sturm M, Fogarty J, Marinkovich MP, Igawa S, Ishida-Yamamoto A, Murrell DF. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2013 Dec;69(6):898-908.e7. doi: 10.1016/j.jaad.2013.08.014. Epub 2013 Sep 24.
PMID: 24075228
citation: Frew JW, Martin LK, Nijsten T, Murrell DF. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol. 2009 Dec;161(6):1323-30. doi: 10.1111/j.1365-2133.2009.09347.x. Epub 2009 Jun 11. Erratum In: Br J Dermatol. 2010 Mar;162(3):701.
PMID: 19681875
citation: Elman S, Hynan LS, Gabriel V, Mayo MJ. The 5-D itch scale: a new measure of pruritus. Br J Dermatol. 2010 Mar;162(3):587-93. doi: 10.1111/j.1365-2133.2009.09586.x. Epub 2009 Dec 1.
PMID: 19995367
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PMID: 25789630
responsible party type: Sponsor
mesh term: Cockayne Syndrome
mesh term: Epidermolysis Bullosa
mesh term: Epidermolysis Bullosa Simplex
mesh term: Sirolimus