A phase I/II single center, open-label study to evaluate the safety, tolerability, pharmacodynamics and preliminary efficacy of intracisternal RGX-111 gene therapy in subjects with severe mucopolysaccharidosis type I

Hospitais de Clínicas de Porto Alegre0 个研究点开始时间: 2018年6月25日最近更新: 2023年5月29日

适应症

试验速览

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•A male or female less than 3 years of age; The subject’s legal guardian(s) is(are) willing and able to provide written, signed informed consent after the nature of the study has been explained, and prior to any research-related procedures; Has a documented diagnosis of severe Mucopolysaccharidosis Type I (MPS I) -Hurler confirmed by homozygosity or compound heterozygosity for mutations exclusively associated with the severe phenotype; Has an intelligent quotient (IQ) score of greater than or equal to 55; Has sufficient auditory and visual capacity, with or without aids, to complete the required protocol testing and willing to be compliant with wearing the aid, if applicable, on testing days

•Has a contraindication for an intracisternal injection (IC); Has any neurocognitive deficit not attributable to Mucopolysaccharidosis Type I (MPS I) or has a diagnosis of a neuropsychiatric condition that may, in the opinion of the PI, confound interpretation of study results; Has any contraindication to lumbar puncture; Has undergone hematopoetic stem cell transplantation (HSCT); Has had prior treatment with an Adeno-associated virus (AAV)-based gene therapy product; Has received intrathecal (IT) laronidase at any time and experienced a significant Adverse event (AE) considered related to IT administration that, in the opinion of the PI, would put the subject at undue risk; Has a platelet count less than 100,000 per
•microliter; Has alanine aminotransferase (ALT) or aspartate aminotransferase (AST) greater than 3 × upper limit of normal (ULN) or total bilirubin greater than 1.5 × ULN at screening, unless the subject has a previously known history of Gilbert’s syndrome; Has a history of human immunodeficiency virus (HIV) or hepatitis B or hepatitis C virus infection, or positive screening tests for hepatitis B surface antigen or hepatitis B core antibody, or hepatitis C or HIV antibodies

发起方

Hospitais de Clínicas de Porto Alegre