N/A N=80 SMYLS: A Self-management Program for Youth Living With Sickle Cell Disease
Sickle Cell Disease
Primary: Rate of Recruitment: Dyads — 2 dyads recruited and enrolled/week
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=11 RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome
Primary: Visual Index Ichthyosis Severity (VIIS) Scaling Score as Assessed by the Investigator in ADX-102 Treated Patients — -0.7 units on a scale
Phase 2 N=13 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). — 8.6; 8.6 units on a scale — p=1.0
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=6 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
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
N/A N=27 Composition & Function of Sarcoplasmic Reticulum in Persons With the Metabolic Syndrome
Metabolic Syndrome
Primary: Sarcoplasmic Reticulum Composition — 2.0; 2.2 PC:PE ratio
N/A N=30 Self-Management for Youth and Families Living With SCD - SMYLS
Sickle Cell Disease
Primary: Rates of Recruitment — 14 weeks
Phase 2 N=18 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale
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=12 Smith-Lemli-Opitz Syndrome and Cholic Acid
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Phase 2 N=6 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
Phase 3 N=161 HEALEY ALS Platform Trial - Regimen E SLS-005 - Trehalose
Amyotrophic Lateral Sclerosis
Primary: Disease Progression as Assessed by the ALSFRS-R Slope — -0.91; -1.06 points per month
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=19 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Metabolic Disease · Seizures
Primary: Change From Baseline on the Adaptive Behavior Assessment System (ABAS) Test at the End of the Study Drug and Placebo Treatment Periods — 5.2; 4.5 scores on a scale
Phase 2 N=32 SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS)
Familial Amyotrophic Lateral Sclerosis
Primary: Mean Change in SOD1 CSF — 6.8 ng/ml
Phase 2 N=142 Comparison of Therapeutic Regimens for Scleroderma Interstitial Lung Disease (The Scleroderma Lung Study II)
Scleroderma · Interstitial Lung Disease
Primary: Forced Vital Capacity (FVC), as a Percent of the Age, Height, Gender, and Ethnicity Adjusted Predicted Value — 66.52; 66.52; 66.22; 67.03 FVC %-pred — p=0.24
N/A N=200 Amyotrophic Lateral Sclerosis Registry Rhineland-Palatinate
Amyotrophic Lateral Sclerosis
Primary: Death — 134 participants
Phase 2 N=28 Gilenya in Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral Sclerosis
Primary: ALSFRS-R Total Score at Weeks 0, 2, 4 and 8 — 38.60; 38.60; 38.15; 38.29 scores on a scale — p=0.780
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 3 N=12 A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
Sly Syndrome · MPS VII · Mucopolysaccharidosis
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation — 12; 4; 9; 1 Participants
Phase 3 N=196 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial
Sickle Cell Anemia · Stroke
Primary: Recurrence of an Infarct, Defined as a Stroke or a New or Enlarged Silent Cerebral Infarct — 2.0; 4.8 infarct recurrence per 100 person years
N/A N=10 Response Inhibition in Tourette Syndrome
Tourette Syndrome
Primary: Stop Signal Reaction Time (SSRT) — 249; 245 milliseconds — p=0.49
Phase 2 N=31 Immunosuppression in Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral Sclerosis (ALS)
Primary: Number of Participants With an Average Increase in ALSFRS-R Score of One Point Per Month — 0 Participants
Phase 2 N=19 IL1-TRAP, Rilonacept, in Systemic Sclerosis
Scleroderma · Systemic Sclerosis · Diffuse Scleroderma
Primary: Change in 2- Gene Biomarker — -2.67; 0.42 2- gene biomarkers score
Phase 2 N=8 Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
Sly Syndrome · MPS VII · Mucopolysaccharidosis
Primary: Percent Change From Baseline in uGAG Excretion (LC-MS/MS-DS) at Week 48 — -58.17 percent change — p=< 0.0001
N/A N=151 Systemic Lupus Erythematous and Heart Conduction Disorders
Lupus Erythematosus, Systemic · Atrioventricular Block · Sudden Death
Primary: Presence of Conduction Disorders in Patients With SLE Regarding to Its Serologic Profile — 89.22; 91.41; 145.68; 146.72 msec
N/A N=87 Usefulness of α-synuclein as a Marker for Early Diagnosis of Parkinson's Disease in Skin Biopsy.
Parkinson Disease · Parkinsonian Disorders
Primary: Demonstrate the Presence of Alpha-Synuclein Inclusions in the Skin of Parkinson's Disease and Compare With an Atypical Parkinsonism Group and With a Healthy Control…
N/A N=11 Audiovestibular Function in Infratentorial Superficial Siderosis
Siderosis · Neurological Disorder · Rare Diseases
Primary: Hearing Evaluation - Pure Tone Audiometry — 57.3 decibel hearing level