A Phase I/II open-label study at a single research center to evaluate the safety, tolerability, and effects of RGX-111 gene therapy given directly into the central nervous system in subjects with severe mucopolysaccharidosis type I
- Conditions
- Mucopolysaccharidosis type IMucopolysaccharidosis IE76.0C16.320.565.202.715.640
- Registration Number
- RBR-758cbn
- Lead Sponsor
- Hospitais de Clínicas de Porto Alegre
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot yet recruiting
- Sex
- Not specified
- Target Recruitment
- Not specified
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
Study & Design
- Study Type
- Intervention
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method