Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
Conditions: Leukodystrophy, Hypomyelinating Interventions: Genetic: Antisense oligonucleotide treatment (ASO) Sponsors: Massachusetts General Hospital; n-Lorem Foundation Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 17, 2024 Category: Research Source Type: clinical trials
A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
Condition: Metachromatic Leukodystrophy (MLD) Intervention: Other: No Intervention Sponsor: Takeda Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - March 6, 2023 Category: Research Source Type: clinical trials
Baby Detect : Genomic Newborn Screening
Conditions: Congenital Adrenal Hyperplasia; Familial Hyperinsulinemic Hypoglycemia 1; Phosphoglucomutase 1 Deficiency; Maturity Onset Diabetes of the Young; Cystic Fibrosis; Hypophosphatasia, Infantile; Congenital Hypothyroidism; DAVID; Pituitary Hormone Deficiency, Combined; Diamond Blackfan Anemia; Wiskott-Aldrich Syndrome; Fanconi Anemia; Hemophilia A; Hemophilia B; Glucose 6 Phosphate Dehydrogenase Deficiency; Alpha-Thalassemia; Sickle Cell Disease; Shwachman-Diamond Syndrome; Alpha 1-Antitrypsin Deficiency; I nflammatory Bowe...
Source: ClinicalTrials.gov - January 18, 2023 Category: Research Source Type: clinical trials
