33 studies found for:    "ankyloblepharon-ectodermal defects-cleft lip palate syndrome" OR "Ectodermal Dysplasias"
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Rank Status Study
21 Completed Biomarker Development in Sturge-Weber Syndrome
Condition: Sturge-Weber Syndrome
Intervention:
22 Not yet recruiting Simvastatin Treatment of Pachyonychia Congenita
Condition: Pachyonychia Congenita
Intervention: Drug: Simvastatine
23 Completed Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita
Condition: Pachyonychia Congenita
Interventions: Drug: TD101;   Drug: Normal saline (placebo)
24 Recruiting Topical Sirolimus for Plantar Keratoderma in Adults With Pachyonychia Congenita (PC)
Conditions: Pachyonychia Congenita;   Plantar Keratoderma
Intervention: Drug: Topical Sirolimus
25 Recruiting Study of Selected X-linked Disorders: Goltz Syndrome
Conditions: Focal Dermal Hypoplasia (FDH);   Goltz Syndrome;   X Linked Disorders
Intervention:
26 Completed Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome
Condition: Sturge- Weber Syndrome
Intervention: Drug: Drug: Topical Rapamycin
27 Completed Use of the Atkins Diet for Children With Sturge Weber Syndrome
Conditions: Epilepsy;   Sturge Weber Syndrome
Intervention: Dietary Supplement: modified Atkins diet
28 Unknown  Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
Condition: Epidermolysis Bullosa Simplex
Interventions: Drug: Dysport® (Botulinumtoxin A (Btx A));   Drug: Placebo
29 Recruiting Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
Condition: Sturge-Weber Syndrome
Intervention:
30 Not yet recruiting Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
Condition: Sturge Weber Syndrome
Intervention: Drug: Everolimus
31 Recruiting French National Cohort of Children With Port Wine Stain
Conditions: Port Wine Stain;   Klippel Trenaunay Syndrome;   Parkes Weber Syndrome
Intervention: Genetic: search for polymorphisms of RASA1 gene
32 Completed Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
Condition: Asphyxiating Thoracic Dystrophy
Intervention: Genetic: IFT80 screening
33 Recruiting Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol
Conditions: Sturge Weber Syndrome;   Port Wine Mark
Interventions: Drug: Timolol;   Drug: Preservative free artificial tear gel.

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Indicates status has not been verified in more than two years