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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 2 N=187 RTA 408 Lotion in Patients at Risk for Radiation Dermatitis - PRIMROSE
Breast Cancer
Primary: Time-averaged Effect on Radiation Dermatitis Grade Measured With Common Terminology Criteria for Adverse Events (CTCAE, v 4.03) Following 3D Conformal Radiation Therapy…
Phase 2 N=18 Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes
Cowden's Disease · Hamartoma Syndrome, Multiple
Primary: Biochemical Changes in Benign and Malignant Tumor Tissues as Assessed by Immunohistochemistry.
Phase 2 N=3 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Netherton Syndrome
Primary: Blood Pimecrolimus Levels — 0; 0; 0.312; 1.260 ng/mL
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
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=46 RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
PTEN Gene Mutation · PTEN Hamartoma Tumor Syndrome
Primary: Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout — 3; 2; 5; 2 Participants
N/A N=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Phase 2 N=150 Systemic and Topical Treatments for Rash Secondary to Erlotinib in Lung Cancer
Rash
Primary: Overall Incidence of Rash — 84; 84; 82 percentage of participants — p=0.8769
Phase 2 N=12 Use of ACTIMMUNE in Patients With ADO2
Autosomal Dominant Osteopetrosis Type 2
Primary: Changes in Bone Resorption Markers From Baseline to 14 Weeks. — 2.2; -2.1 percentage of change
N/A N=39 ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Phase 3 N=153 The ASCEND Study: Evaluating TMB-001 in the Treatment of RXLI or ARCI Ichthyosis
Ichthyosis
Primary: Change in Investigator Global Assessment (IGA) Score — 41.4; 44.9 percentage of responders — p=0.39
N/A N=32 Histological Characterization and Differentiation of Rash From Other Epidermal Growth Factor Receptor (EGFR) Inhibitors
Skin Rash
Primary: Differences in Histologic Alterations in Rash Caused by Lapatinib, a Dual HER1/2 Inhibitor (HER1/2i), and the Single HER1 Inhibitors (HER1i) Cetuximab, Erlotinib,and…
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=14 Preventative Skin Care for Children Undergoing Targeted CNS Tumor Therapy
Pediatric Cancer · CNS Tumor, Childhood · Skin Inflammation
Primary: Rate of Cutaneous Reaction — 7 Participants
Phase 2 N=11 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia
Anemia, Aplastic · Red-Cell Aplasia, Pure · Anemia, Diamond-Blackfan
Primary: Response to Rituximab — 0; 2; 9 participants
Phase 2 N=63 Antioxidant Therapy in RYR1-Related Congenital Myopathy
Neuromuscular Disease
Primary: Urine 15-F2t Isoprostane Concentration — 2.7; 2.6 ng/mg Cr — p=0.88
Phase 2 N=23 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
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=53 RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR
MItochondrial Myopathies
Primary: Change of Peak Workload (in Watts/kg) During Exercise Testing — 0.0090; 0.020; -0.0300; 0.1050 Watts/kg — p=0.7321
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=4 Combination Drug Study of Bexarotene and Rosiglitazone to Treat CTCL
Cutaneous T-cell Lymphoma · Mycosis Fungoides · Sezary Syndrome
Primary: Number of Participants With a 50% Improvement in Baseline Skin Score — 0 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=5 Magnesium Supplementation in People With XMEN Syndrome
XMEN
Primary: Participants With a ≥0.5 Log Reduction in the Number of EBV-infected B Cells After Magnesium Supplementation as Compared to Placebo - Phase 1 — 0; 0 Participants
Phase 2 N=135 Genotype-directed Neoadjuvant Chemoradiation for Rectal Carcinoma
Rectal Carcinoma
Primary: Rate of Tumor Downstaging Compared With Historical Controls. — 64.4; 64.5 percentage of participants
Phase 2 N=50 RAD001 for Patients With Radioiodine Refractory Thyroid Cancer
Thyroid Cancer
Primary: Median Progression Free Survival — 12.5 months
Phase 2 N=5 Study of Sequential Administration of Oral 6-Thioguanine After Methotrexate in Patients With LCH
Langerhans Cell Histiocytosis
Primary: Determine the Incidence of Complete and Partial Response and the Duration of Response in Patients With Langerhans Cell Histiocytosis (LCH) Treated With Sequential…
Phase 2 N=1 Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
Cancer · Skin Fibroblasts · Muscle Weakness
Primary: Change in PCr Recovery Tc Measurement From Baseline to 12 Week NR Supplementation Using the 31P-MRS Skeletal Muscle Submaximal Exercise. — 60; 73 Seconds
Phase 2 N=18 Investigation of [6R] 5,10-methylenetetrahydrofolate (Arfolitixorin) as Rescue Therapy for Osteosarcoma Patients Treated With HDMTX.
Osteosarcoma
Primary: Number of AEs Per Severity (All Courses) — 40; 27; 8; 15 Number of AEs
Phase 2 N=28 An Open-Label Study of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001)
Pitt Hopkins Syndrome
Primary: Safety and Tolerability — 15; 0; 4; 12 Participants