E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Adults with homozygous familial hypercholesterolemia |
|
E.1.1.1 | Medical condition in easily understood language |
High cholesterol levels in subjects with homozygous familial hypercholesterolemia due to mutation in LDL receptor |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Cardiovascular Diseases [C14] |
MedDRA Classification |
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The primary objective is to evaluate the long-term safety of RGX-501. |
|
E.2.2 | Secondary objectives of the trial |
To evaluate the long-term effect of RGX-501 on LDL-C and other lipid parameters and to evaluate the long-term impact of RGX-501 on the use of other lipid-lowering therapies, including apheresis. |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
To be eligible to participate in this study, a participant must have previously received RGX-501 in a separate parent trial, and the participant or participant's legal guardian(s) is/(are) willing and able to provide written, signed informed consent after the nature of the study has been explained, prior to any research-related procedures. |
|
E.4 | Principal exclusion criteria |
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E.5 End points |
E.5.1 | Primary end point(s) |
The primary endpoints are the incidences of AEs and serious adverse events (SAEs) over time. |
|
E.5.1.1 | Timepoint(s) of evaluation of this end point |
Cumulative 5 years of follow up after RGX-501 administration in the parent study, or RGX-501 has become commercially available in the participant's country, whichever occurs first. |
|
E.5.2 | Secondary end point(s) |
- Absolute LDL-C levels by beta quantification at Year 3 after RGX-501 administration, - Absolute total cholesterol, LDL-C, very low density lipoprotein cholesterol (VLDL-C), high density lipoprotein cholesterol (HDL-C), calculated non-HDL-C, triglycerides (TG), and lipoprotein a (Lp(a)) over the study duration, as available from medical records or collected as per standard of care (SOC) - Usage of lipid-lowering therapies over time. |
|
E.5.2.1 | Timepoint(s) of evaluation of this end point |
Cumulative 5 years of follow up after RGX-501 administration in the parent study, or RGX-501 has become commercially available in the participant's country, whichever occurs first. |
|
E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | No |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 1 |
E.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 2 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
Canada |
Italy |
Netherlands |
United States |
|
E.8.7 | Trial has a data monitoring committee | Yes |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|
A participant is considered to have completed the study if he/she has completed the visit marking 5 years of follow up after RGX-501 administration in the parent study, or RGX-501 has become commercially available in the participant's country, whichever occurs first. The end of the study is defined as the date of the last visit or contact of the last participant in the study globally. |
|
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 5 |
E.8.9.1 | In the Member State concerned months | |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial years | 5 |