| Not Yet Recruiting | Cystinosis and Mitochondrial Metabolism NCT07319091 | Hospices Civils de Lyon | N/A |
| Recruiting | PK and PD Study of NPI-001 and Cysteamine Bitartrate NCT05994534 | Nacuity Pharmaceuticals, Inc. | Phase 1 / Phase 2 |
| Completed | The Effect of Exercise on Muscle Dysfunction in Cystinosis NCT04071548 | Stanford University | N/A |
| Recruiting | Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Trans NCT05508009 | Alice Bertaina | Phase 1 / Phase 2 |
| Enrolling By Invitation | A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04 NCT05146830 | Stephanie Cherqui | — |
| Completed | Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients NCT05545774 | Assistance Publique - Hôpitaux de Paris | — |
| Completed | Baby Detect : Genomic Newborn Screening NCT05687474 | Centre Hospitalier Universitaire de Liege | — |
| Recruiting | Development of Health-related Quality of Life Instrument for Patients With Cystinosis NCT05959668 | Cystinose Stiftung | — |
| Recruiting | Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria NCT05843851 | Cystinose Stiftung | N/A |
| Completed | Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2) NCT04125927 | RECORDATI GROUP | Phase 3 |
| Terminated | A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis NCT04069260 | Eloxx Pharmaceuticals, Inc. | Phase 2 |
| Completed | Stem Cell Gene Therapy for Cystinosis NCT03897361 | University of California, San Diego | Phase 1 / Phase 2 |
| Enrolling By Invitation | Early Check: Expanded Screening in Newborns NCT03655223 | RTI International | — |
| Completed | Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy NCT06027385 | Cystinose Stiftung | N/A |
| Recruiting | European Cystinosis Cohort NCT05901077 | Institut National de la Santé Et de la Recherche Médicale, France | — |
| Completed | The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients NCT02533076 | Universitaire Ziekenhuizen KU Leuven | EARLY_Phase 1 |
| Withdrawn | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis NCT02124070 | National Human Genome Research Institute (NHGRI) | Phase 1 / Phase 2 |
| Completed | Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) NCT01733316 | Amgen | Phase 3 |
| Completed | Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment N NCT01744782 | Amgen | Phase 3 |
| Completed | A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications NCT02012114 | Hospices Civils de Lyon | N/A |
| Completed | Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cysta NCT01432561 | University of California, San Diego | N/A |
| Completed | N Acetyl Cysteine for Cystinosis Patients NCT01614431 | University of Sao Paulo | Phase 4 |
| Completed | Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) NCT01197378 | Amgen | Phase 3 |
| Unknown | Cure Cystinosis International Registry NCT01327807 | Cystinosis Research Foundation | — |
| Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford NCT01793168 | Sanford Health | — |
| Completed | Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinos NCT01000961 | Amgen | Phase 3 |
| Recruiting | National Registry of Rare Kidney Diseases NCT06065852 | UK Kidney Association | — |
| Completed | Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patie NCT00872729 | Amgen | Phase 1 / Phase 2 |
| Completed | Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis NCT00822250 | Centre Hospitalier Universitaire de Nice | N/A |
| Completed | Salivary Proteins in Disease and Health NCT00100204 | National Institute of Dental and Craniofacial Research (NIDCR) | — |
| Completed | Kidney Transplantation in Patients With Cystinosis NCT00074516 | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | — |
| Completed | The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control NCT00071903 | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | — |
| Completed | Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Pa NCT00010426 | FDA Office of Orphan Products Development | N/A |
| Completed | Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis NCT00004312 | National Center for Research Resources (NCRR) | — |
| Completed | Evaluation of Fanconi Syndrome and Cystinosis NCT00004350 | National Center for Research Resources (NCRR) | — |
| Completed | New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis NCT00001736 | National Eye Institute (NEI) | Phase 1 |
| Completed | Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis NCT00001213 | National Eye Institute (NEI) | Phase 2 |
| Recruiting | Use of Cysteamine in the Treatment of Cystinosis NCT00359684 | National Human Genome Research Institute (NHGRI) | — |