N/A N=61 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Dyskeratosis Congenita · Aplastic Anemia
Primary: Incidence of Neutrophil Engraftment — 100; 100; 96; 100 Percentage of participants
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=36 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Dyskeratosis Congenita · Aplastic Anemia
Primary: Neutrophil Engraftment — 15; 20 Participants
N/A N=10 Dermatosis Papulosa Nigra
Facial Dermatoses · Seborrheic Keratoses
Primary: Percent Clearance of All Lesions — 88; 96; 92.5; 0 percentage of lesion clearance
Phase 2 N=48 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
Fanconi Anemia · Squamous Cell Carcinoma
Primary: Number of Participants With at Least 20% Reduction of Buccal Micronuclei — 13 Participants
Phase 2 N=47 Tofacitinib for Immune Skin Conditions in Down Syndrome
Down Syndrome · Alopecia Areata · Atopic Dermatitis / Eczema
Primary: Number of Serious Adverse Events (SAE) Definitely Related to Tofacitinib Treatment. — 0 Serious Adverse Events
Phase 2 N=27 Danazol for Genetic Bone Marrow and Lung Disorders
Aplastic Anemia
Primary: Number of Patients Having Attenuation of Accelerated Telomere Attrition — 12 Participants
Phase 2 N=6 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
Sickle Cell Disease · Thalassemia · Diamond-Blackfan Anemia
Primary: Count of Participants With Stable Engraftment Post Hematopoietic Cell Transplantation (HCT) — 3 Participants
N/A N=29 Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Rothmund-Thomson Syndrome
Primary: Bone Density (Low Areal Bone Mineral Density (aBMD)) — -1.3; -0.9; -2.4; -1.2 z-score
Phase 2 N=7 Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa
Primary: Percent Change of Active Blisters and in Total Blister/Erosion Counts — -29.6 percent change — p=0.82
Phase 2 N=19 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
Congenital Ichthyosis
Primary: Number of Participants With Adverse Events (AEs) in Part 1 of Trial (Weeks 0-8) — 7; 7; 5; 5 participants
Phase 2 N=5 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive Dystrophic Epidermolysis Bullosa
Primary: Restoration of Full-length Type VII Collagen as Assessed by Immunofluorescence. — 5; 5; 4; 4 Fluorescence Intensity (MFI) for C7
Phase 2 N=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
N/A N=40 Umbilical Cord Blood Transplant for Congenital Pediatric Disorders
Congenital Pediatric Disorders
Primary: Overall Survival at 100 Days After Umbilical Cord Blood Transplant in Pediatric Patients. — 0.947 probability of overall survival
Phase 2 N=47 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
Hemophagocytic Lymphohistiocytosis · Chronic Active Epstein-Barr Virus Infection · Chronic Granulomatous Disease
Primary: Percentage of Participants With Overall Survival (OS) — 80.4; 66.7 percentage of participants
Phase 2 N=26 Thymus Transplantation in DiGeorge Syndrome #668
DiGeorge Syndrome · Complete Typical DiGeorge Anomaly
Primary: Survival at 1 Year Post-Cultured Thymus Tissue Implantation (CTTI) — 72 % of participants who survive to 1 year
Phase 2 N=15 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
Chronic Granulomatous Disease
Primary: Percentage of Participants With Engraftment — 100 percentage of participants
N/A N=150 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Erythropoietic Protoporphyria · EPP · X-Linked Protoporphyria
Primary: The Hospital Anxiety and Depression Scale (HADS) — 4.6; 1.9 score on a scale
Early Phase 1 N=48 Donor Stem Cell Transplantation for Congenital Immunodeficiencies
Inherited Immune Deficiencies
Primary: Stem Cell Transplant Engraftment — 7; 31; 3; 0 Participants
Phase 2 N=17 MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs
Epidermolysis Bullosa
Primary: Event-free Survival — 4; 2; 1 Count of Participants
Phase 2 N=16 Allogeneic SCT of NiCord®, UCB-Derived Ex Vivo Expanded Stem and Progenitor Cells, in Patients With Hemoglobinopathies
Sickle Cell Disease & Thalassemia
Primary: Safety and Tolerability Will be Measured by Acute NiCord® Infusional Toxicity. — 0; 0; 3; 0 participants
Phase 2 N=32 Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs
Epidermolysis Bullosa
Primary: Percentage of Participants With Event-free Survival — 67; 80; 50; 29 Percentage of participants
N/A N=3 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
Lysosomal Storage Disease · Peroxisomal Disorder
Primary: Donor (Allogeneic) Hematopoietic Engraftment — 1 participants
Phase 2 N=2 Reduced Intensity Conditioning Using CD3+/CD19+ Depletion for Non Malignant Transplantable Diseases
Bone Marrow Failure Syndromes · Immunodeficiencies · Immune Dysregulation Syndromes
Primary: Number of Participants With Engraftment — 2 Participants
N/A N=9 Reversal of Epidermal Phenotype in Severe Atopic Dermatitis With Cyclosporine Therapy
Atopic Dermatitis · Eczema
Primary: SCORAD Change Score — 33.34 Change Score
Phase 2 N=75 Vitamin D Supplementation as a Neoadjuvant for Photodynamic Therapy of Actinic Keratoses
Actinic Keratosis
Primary: Clinical PDT Response as Measured by Percent Change in AK Lesions From Baseline to 3 Months — 59.1; 72.5 Percent change of AK lesions
Phase 2 N=20 Imatinib Mesylate to Treat Skin Changes in Patients With Chronic Graft-Versus-Host Disease
Sclerotic Graft Versus Host Disease · Imatinib Mesylate
Primary: Percent Change in Absolute Range of Motion (ROM) From Baseline to 6 Months — 94; 35; 16; 21 Percent change from baseline
N/A N=35 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
Atopic Dermatitis · Ichthyosis Vulgaris
Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants
Phase 2 N=7 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica · Epidermolysis Bullosa
Primary: Number of Wounds by Healing Category Per Investigator Visual Assessment — 35; 5; 2; 28 wounds
Phase 4 N=9 Gene Expression in Renal Transplant Patients With Field Actinic Keratosis Undergoing Metvix® Photodynamic Therapy (PDT)
Actinic Keratosis
Primary: Percent Change From Baseline in Lesion Count at Week 18 — 95.5 percent change
Phase 2 N=54 Decitabine and Tretinoin in Treating Patients With Myelodysplastic Syndromes
Myelodysplastic Syndromes
Primary: Number of Participants Evaluated for Hematologic and Nonhematologic Toxicities as Measured by NCI CTC v2.0 — 5; 14; 7; 28 Participants