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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Early Phase 1 N=13 An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses
Ichthyosis
Primary: Reduction in Total Ichthyosis Severity Score — -12.2 units on a scale
N/A N=17 Cytokines in Papillon-Lefèvre Syndrome
Papillon-Lefevre Disease
Primary: Serum Concentrations of Interleukin (IL)-1 Beta — 1100.00; 896.21; 65559; 45734 pg/ml
Phase 2 N=20 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses
Ichthyosis · Autosomal Recessive Congenital Ichthyosis · Lamellar Ichthyosis
Primary: Reduction at Week 16 in the Ichthyosis Area Severity Index (IASI) — 2.4; 4.3 units on a scale
Phase 3 N=31 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
Nephrotic Syndrome
Primary: Number of Participants Experienced a Relapse of Nephrotic Syndrome — 14; 15 Participants
Phase 4 N=1 A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS)
Epidermal Nevus Syndrome
Primary: The Participant Will Achieve Normal Age-adjusted Phosphorous Levels as Tested by Fasting Serum Lab Values — 0.8; 1.2; 1.3; 1.1 mg/dl
Phase 4 N=15 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR)
Treatment Resistant Nephrotic Syndrome
Primary: Significant Reduction in Proteinuria to Remission Levels During the Treatment Period (Includes Complete and Partial Remission, as Defined in the Outcome Measure…
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
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=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
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=4 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
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=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=12 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)
Sjögren-Larsson Syndrome
Primary: Number of Participants Experiencing a Serious Adverse Event (SAE). — 0; 0 Participants
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
Phase 4 N=77 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
Nephrotic Syndrome
Primary: Remission Rate — 34; 13 Participants — p=0.001
Phase 2 N=21 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo Syndrome
Primary: Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III) — 0; 2; 1 participants — p=0.4615
Phase 2 N=60 Copper Histidine Therapy for Menkes Diseases
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
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
Phase 2 N=35 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Albinism · Inborn Errors of Metabolism · Oculocutaneous Albinism
Primary: Change in Forced Vital Capacity (36 Months) — -23.52; -20.93 % of predicted volume
Phase 2 N=12 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events