28 completed, 8 recruiting, 4 unknown, 3 not yet recruiting. 10 Not applicable, 10 Phase 2, 7 Phase 1, 5 Phase 3, 1 Early Phase 1.
Follow Cystinosis: new trials by email Literature Review of Cystinosis trials Research Report on Cystinosis
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Pilot Study of TTI-0102 in Cystinosis TTI-0102 (cysteamine-pantetheine disulfide) - Nephropathic Cystinosis, Cystinosis | Phase 2 | Not yet recruiting | Thiogenesis Therapeutics, Inc. | 6 | 2026-10-01 | 2026-09-23 |
| European Cystinosis Cohort 2 Cystinosis | Not yet recruiting | Institut National de la Santé Et de la Recherche Médicale, France | 250 | 2026-09-01 | 2026-09-17 | |
| Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia Oral brushing - Fanconi Anaemia | Not applicable | Not yet recruiting | Institut Jean-Godinot | 115 | 2026-04-01 | 2025-11-21 |
| Cystinosis and Mitochondrial Metabolism Mitochondrial metabolism - Cystinosis, Native Kidney | Not applicable | Recruiting | Hospices Civils de Lyon | 25 | 2025-12-08 | 2026-08-03 |
| DFT383 in Pediatric Participants With Nephropathic Cystinosis DFT383 - Nephropathic Cystinosis | Phase 1 / Phase 2 | Recruiting | Novartis Pharmaceuticals | 30 | 2025-06-02 | 2026-10-16 |
| PK and PD Study of NPI-001 and Cysteamine Bitartrate Cysteamine Bitartrate, N-Acetylcysteine Amide - Cystinosis | Phase 1 / Phase 2 | Completed | Nacuity Pharmaceuticals, Inc. | 8 | 2023-10-29 | 2026-10-13 |
| The Effect of Exercise on Muscle Dysfunction in Cystinosis HIIT Exercise - Cystinosis | Not applicable | Completed | Stanford University | 9 | 2023-01-26 | 2024-10-02 |
| Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor Cyclophosphamide 1200 mg/Kg, Fludarabine, Cyclophosphamide 100 mg/Kg - SIOD, Cystinosis | Phase 1 / Phase 2 | Recruiting | Alice Bertaina | 12 | 2023-01-10 | 2023-07-17 |
| A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04 Safety and Efficacy Assessments - Cystinosis | Enrolling by invitation | Stephanie Cherqui | 50 | 2022-11-14 | 2024-07-03 | |
| Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients Cystinosis | Completed | Assistance Publique - Hôpitaux de Paris | 20 | 2022-09-22 | 2025-11-24 | |
| Baby Detect : Genomic Newborn Screening Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1 | Completed | Centre Hospitalier Universitaire de Liege | 6824 | 2022-09-01 | 2025-08-12 | |
| Development of Health-related Quality of Life Instrument for Patients With Cystinosis Cystinosis | Unknown | Cystinose Stiftung | 300 | 2022-05-01 | 2024-08-22 | |
| Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria Diagnostic test - Cystinosis, Primary Hyperoxaluria | Not applicable | Unknown | Cystinose Stiftung | 200000 | 2022-03-15 | 2023-05-06 |
| RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) Data collection from EHR. - Sickle Cell Disease, Thalassemia | Recruiting | Hospital Universitari Vall d'Hebron Research Institute | 32564 | 2021-11-30 | 2024-01-19 | |
| Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2) Mercaptamine - Cystinosis | Phase 3 | Completed | RECORDATI GROUP | 5 | 2020-09-01 | 2024-02-05 |
| Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients Cysteamine Bitartrate - Nephropathic Cystinosis | Unknown | Chiesi SA/NV | 31 | 2020-07-31 | 2021-11-29 | |
| A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis ELX-02 - Genetic Disease, Nonsense Mutation | Phase 2 | Terminated | Eloxx Pharmaceuticals, Inc. | 3 | 2019-08-02 | 2020-05-27 |
| Stem Cell Gene Therapy for Cystinosis CTNS-RD-04 (including CTNS-RD-04-LB manufactured with LentiBOOST) - Lysosomal Storage Diseases, Cystinosis | Phase 1 / Phase 2 | Completed | University of California, San Diego | 7 | 2019-07-08 | 2026-08-06 |
| CYSTEA-BONE Clinical Study Blood sampling - Nephropathic Cystinosis | Completed | Hospices Civils de Lyon | 42 | 2019-04-05 | 2026-10-22 | |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 |
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Rare Diseases (10) · Fanconi Syndrome (4) · Lysosomal Storage Diseases (4) · Metabolic Diseases (4) · Anemia, Sickle Cell (3) · Ataxia with vitamin E deficiency (3) · Hyperargininemia (3) · Hyperoxaluria, Primary (3) · Leukodystrophy, Metachromatic (3) · Nephritis, Hereditary (3) · Pseudohypoaldosteronism (3) · Urogenital Diseases (3) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · Acidemia, isovaleric (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (47) · Nutritional and Metabolic Diseases (47) · Genetic Diseases, Inborn (46) · Metabolism, Inborn Errors (46) · Lysosomal Storage Diseases (43) · Metabolic Diseases (43) · Pathologic Processes (15) · Pathological Conditions, Signs and Symptoms (15) · Disease Attributes (12) · Female Urogenital Diseases (10) · Female Urogenital Diseases and Pregnancy Complications (10) · Male Urogenital Diseases (10) · Urologic Diseases (10) · Kidney Diseases (9) · Nervous System Diseases (9)
Cysteamine (14) · Acetylcysteine (1) · Blood Specimen Collection (1) · Cyclophosphamide (1) · Deferasirox (1) · Diagnostic Tests, Routine (1) · ELX-02 (1) · High-Intensity Interval Training (1) · Kidney Transplantation (1) · Melphalan (1) · N-Acetylcysteinamide (1) · Rituximab (1) · Safety (1) · Toothbrushing (1) · Whole-Body Irradiation (1)
Amgen (5) · Cystinose Stiftung (3) · Hospices Civils de Lyon (3) · Institut National de la Santé Et de la Recherche Médicale, France (2) · National Center for Research Resources (NCRR) (2) · National Eye Institute (NEI) (2) · National Human Genome Research Institute (NHGRI) (2) · Novartis Pharmaceuticals (2) · University of California, San Diego (2) · Alice Bertaina (1) · Assistance Publique - Hôpitaux de Paris (1) · Centre Hospitalier Universitaire de Liege (1) · Centre Hospitalier Universitaire de Nice (1) · Chiesi SA/NV (1) · Cystinosis Research Foundation (1)
United States (22) · France (11) · Belgium (5) · Germany (5) · Italy (4) · Netherlands (3) · United Kingdom (3) · Australia (2) · Brazil (1) · Canada (1) · Greece (1) · Spain (1) · Turkey (Türkiye) (1)
Jerry A. Schneider (2) · Alice Bertaina, MD (1) · Aude Servais (1) · Aude Servais, MD, PhD (1) · Aude Servais, PHD (1) · Cochat Pierre, PUPH (1) · Curt Scharfe, MD, PhD (1) · Edward F. Lemanowicz (1) · Galina V Nesterova, M.D. (1) · Hugh McCarthy, PhD, FRACP (1) · Jerry A Schneider, M.D. (1) · Julia Hannah Quitmann, PD Dr. (1)
PMID 20716238, PMID 21590737, PMID 21963264, PMID 22205430, PMID 23089735, PMID 24948347, PMID 25186209, PMID 27734949, PMID 28057644, PMID 31315600, PMID 32901297, PMID 35142618, PMID 41672367, PMID 41707137
2004 (1)