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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=236 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophy · White Matter Disease · 4H Syndrome
Primary: Changes in Diagnosis Status (Resulting From WGS) — 45 Participants
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=30 N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
GM2 Gangliosidosis · Tay-Sachs Disease · Sandhoff Disease
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.71 score on a scale — p=0.044
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 2 N=24 Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
Metachromatic Leukodystrophy (MLD)
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs) by Type and Severity — 6; 6; 6; 6 Participants
Phase 3 N=25 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy
Hypoleptinemia · Generalized Lipodystrophy · Partial Lipodystrophy
Primary: Fasting Serum Triglycerides — 203; 304 mg/dL — p=0.2572
N/A N=46 Neurologic Injuries in Adults With Urea Cycle Disorders
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
N/A N=31 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
X-linked Adrenoleukodystrophy
Primary: Change in Maximal Voluntary Contraction of the Hip Flexors From Baseline to End of Training and to Post-training — 0.94; 0.98; 1.32; 1.37 kg
N/A N=17 Leptin for Abnormal Lipid Kinetics in HIV Lipodystrophy Syndrome
HIV Lipodystrophy
Primary: Rate of Total Lipolysis — 0.649; 0.767 mmol FFA/kg/h
Phase 3 N=35 A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
Cerebral Adrenoleukodystrophy (CALD)
Primary: Percentage of Participants Who Were Alive and Have None of the 6 Major Functional Disabilities (MFDs) at Month 24 — 85.7 Percentage of participants
Phase 3 N=44 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Phase 4 N=11 Immunogenicity of Metreleptin in Patients With Generalized Lipodystrophy
Generalized Lipodystrophy
Primary: Evaluate the Immunogenicity Associated With Daily Subcutaneous (SC) Metreleptin Treatment in Patients With Congenital Generalized Lipodystrophy (CGL) or Acquired…
Phase 2 N=16 A Study of Fabrazyme in Pediatric Patients With Fabry Disease
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Phase 3 N=32 A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
Cerebral Adrenoleukodystrophy (CALD)
Primary: Percentage of Participants Who Were Alive and Have None of the 6 Major Functional Disabilities (MFDs) at Month 24 and Without Allo-HSCT or Rescue Cell Administration…
N/A N=91 Dementia With Lewy Bodies - Infinitome
Dementia With Lewy Bodies
Primary: Functional Connectivity Scores Between Pairs of Large Scale Brain Networks. — 0.164; 0.374; 0.344; 0.340 connectivity score
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=103 Leptin to Treat Lipodystrophy
Lipodystrophy
Primary: Percentage of Glycosylated Hemoglobin at Baseline, 6 Months, and 12 Months on Treatment With Metreleptin — 8.4; 8.1; 6.6; 7.2 percentage of glycated hemoglobin — p=<0.001
Phase 2 N=33 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
Niemann-Pick Disease, Type C
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.86 score on a scale — p=0.029
Phase 4 N=12 Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Phase 2 N=7 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Phase 2 N=1 Effects of Leptin Replacement in Children
Obesity · Metabolic Syndrome · Diabetes
Primary: Weight — NA lbs
Phase 2 N=44 Study of the Safety & Efficacy of Leukine® in the Treatment of Alzheimer's Disease
Alzheimer's Disease
Primary: Adverse Events (AEs) by Body System — 5; 2; 6; 5 Adverse Events
Phase 2 N=13 Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Late Infantile Metachromatic Leukodystrophy
Primary: Relative Changes (%) in Gross Motor Function Measurement (GMFM) — -2.98; -5.42; -5.28 Relative % change in total GMFM-88 SOT — p=0.4013
Phase 1 N=11 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler
Hurler Syndrome
Primary: Percentage of Adherence to the Scheduled Weekly Infusion by the Participants — 99 percentage
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
Phase 2 N=41 Stem Cell Transplantation for Hurler
Mucopolysaccharidosis I · Mucopolysaccharidosis VI · Mannosidosis
Primary: Mean Percentage of Donor Cells in Study Population (Chimerism). — 85.8; 73.2; 84.6; 81.1 Percentage
N/A N=10 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
Hunter Syndrome
Primary: Levels of Total Glycosaminoglycan (GAG) in CSF — 816.750 ng/mL
Phase 2 N=25 Stem Cell Transplant w/Laronidase for Hurler
Mucopolysaccharidosis I · Hurler Syndrome
Primary: Number of Patients Alive at One Year Post Transplant — 18 Participants
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants