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.
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=13 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Metachromatic Leukodystrophy (MLD)
Primary: Number of Participants With Treatment-emergent Adverse Events (TEAEs) — 4; 5; 4 participants
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 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=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=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=46 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
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
N/A N=25 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Sanfilippo Syndrome Type A
Primary: Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores — 0.17; 1.19; -1.72…
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 An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 Participants
Phase 3 N=5 Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A
Molybdenum Cofactor Deficiency, Type A
Primary: Overall Survival — 3 Participants
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=19 Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis
Primary: Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose — 17; 19 Participants — p=0.21
Phase 3 N=177 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
MPS IV A
Primary: Change From Baseline in Endurance as Measured by the 6-minute Walk Test — 211.9; 205.7; 203.9; 225.4 meters — p=0.0174
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 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 3 N=12 Betaine and Peroxisome Biogenesis Disorders
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
N/A N=65 CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0 — 1.15; 1.38; 1.14; 0.86 Events per person — p=0.50
Phase 2 N=8 Safety & Efficacy Study of ORGN001 (Formerly ALXN1101) in Pediatric Patients With MoCD Type A Currently Treated With rcPMP
Molybdenum Cofactor Deficiency, Type A
Primary: Safety of ORGN001 (Formerly ALXN1101) — 1; 5; 6; 2 events
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=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 participants
Phase 2 N=11 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)
Mucopolysaccharidosis IIIB
Primary: Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs) — 1; 0; 1 Participants
Phase 2 N=15 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)
Mucopolysaccharidosis IVA · Morquio A Syndrome · MPS IVA
Primary: To Evaluate Safety and Tolerability of Infusions of BMN 110 at a Dose of 2.0 mg/kg/Week Over a 52-week Period in MPS IVA Subjects Less Than 5 Years of Age at Time of…
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
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=1,147 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
Mucopolysaccharidoses
Primary: Carotid Intima-media Thickness, Measured in Millimeters — 0.44; 0.52; 0.56 mm
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
N/A N=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants