Several clinical trials evaluate metabolic, neuromuscular, and ocular conditions, specifically late-onset Pompe disease, gyrate atrophy of the choroid and retina associated with ornithine-δ-aminotransferase deficiency, and Friedreich ataxia. Ranging from Phase 1/Phase 2 interventional studies to non-interventional biomarker and observational protocols, these investigations are supported by pharmaceutical entities like GeneCradle Inc and Astellas Pharma Inc, alongside academic and public institutions including INSERM, the University of Giessen, and the Jaeb Center for Health Research. Most of these trials are actively recruiting or preparing to recruit participants to evaluate patient safety, biomarkers, and therapeutic outcomes.
| NCT Number | Recruitment | Conditions | Sponsor/Collaborators | Start Date | Phases |
|---|---|---|---|---|---|
| NCT06391736 | Recruiting | Pompe Disease (Late-onset) |
GeneCradle Inc |
2024-04-19 | Phase 1|Phase 2 |
| NCT06150820 | Recruiting | Pompe Disease (Late-onset) |
Astellas Gene Therapies|Astellas Pharma Inc |
2024-02-01 | Not Applicable |
| NCT05312736 | Recruiting | Gyrate Atrophy|Gyrata of Choroid and Retina; Atrophy|Ornithine-δ-aminotransferase|OAT|Chorioretinal Degeneration |
Jaeb Center for Health Research|Conquering Gyrate Atrophy Foundation|Food and Drug Administration (FDA)|Department of Health and Human Services |
2023-11-21 | -- |
| NCT05874388 | Not yet recruiting | Friedreich Ataxia |
Institut National de la Santé Et de la Recherche Médicale France |
2023-09-01 | Not Applicable |
| NCT05448131 | Recruiting | Pompe-Disease |
Centre for Analytical Biochemistry and Biomedical Mass Spectrometry|University of Giessen |
2023-02-01 | -- |
(data from https://clinicaltrials.gov, updated on 2024-05-22)
Mechanism and Biochemical Profile
Appendix RUO and cGMP Quality Standards
| Quality Dimension | RUO (Research Use Only) | cGMP (Current Good Manufacturing Practice) |
|---|---|---|
| Clinical Applicability | Prohibited in human clinical trials or medical diagnostics. | Mandatory for human clinical trials (Phase I–III) and therapies. |
| Regulatory Status | Non-regulated grade; exempt from drug manufacturing laws. | Legally enforced by health authorities (e.g., FDA, EMA, NMPA). |
| Facility Environment | Unclassified analytical or research laboratories. | Validated Cleanrooms (ISO Class 5–8) with continuous monitoring. |
| Quality Control | Basic purity and activity testing. | Rigorous safety release testing (Sterility, Endotoxin, Mycoplasma). |
| Process Validation | Basic equipment calibration; no process validation required. | Full qualification (IQ/OQ/PQ) and complete batch records. |
| Quality Assurance | Vendor self-declared without required formal QMS. | Mandatory QA/QC unit, Change Control, CAPA, and vendor audits. |
| Regulatory Impact | High risk of IND rejection if used as a critical raw material. | Required for IND/NDA filings, supported by Drug Master Files (DMF). |
Footnotes
Regulatory Note: Governed by FDA (21 CFR Parts 210/211/312), EMA (EudraLex Vol 4), ICH Guidelines (E6/Q7/Q9/Q10), and compendial standards (USP <71>/<85>/<1043>).