Clinical trials: Nephropathic Cystinosis
Renal Fanconi Syndrome, Photophobia
Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood
- Conditions
- Renal Fanconi Syndrome, Photophobia, Hypophosphatemia
- Trial name
- BioCystinosis (NCT02837523)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
HIV Infections, Fanconi Syndrome
Fanconi Syndrome Due to ARVs in HIV-Infected Persons
Cross-sectional cohort study of participants with HIV with or without protocol-defined Fanconi syndrome (confirmed creatinine clearance [CLcr] decline and evidence of proximal tubulopathy).
- Conditions
- HIV Infections, Fanconi Syndrome, Kidney Disease, Renal Impairment
- Trial name
- NCT00499187
- Testing
- Blood Draws
- Where
- 13 sites in United States, Canada
- Volunteers
- 56 people
- Sponsor
- Gilead Sciences
Nephropathic Cystinosis, Cystinosis
Pilot Study of TTI-0102 in Cystinosis
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with…
- Trial name
- NCT07837726
- Testing
- TTI-0102 (cysteamine-pantetheine disulfide)
- Volunteers
- 6 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Fanconi Anemia Complementation Group A, Fanconi Anemia
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial.
- Trial name
- NCT04437771
- Testing
- Safety and efficacy assessments
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Fanconi Anemia Complementation Group A
A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A
The objective of this study is to assess the therapeutic safety and preliminary efficacy of a hematopoietic cell-based gene therapy consisting of autologous CD34+ enriched cells transduced with a lentiviral vector carrying the…
- Trial name
- NCT03814408
- Testing
- RP-L102
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Fanconi Anemia Complementation Group A
Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
This is an open-label Phase II clinical trial to evaluate the efficacy of a hematopoietic cell-based gene therapy for pediatric patients with Fanconi Anemia, subtype A (FA-A).
- Trial name
- NCT04069533
- Testing
- RP-L102
- Where
- 2 sites in Spain, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
Beta-thalassemia, Myelodysplastic Syndromes
Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions.
- Conditions
- Beta-thalassemia, Myelodysplastic Syndromes, Fanconi Syndrome, Anemia, Diamond-Blackfan
- Trial name
- NCT00061763
- Testing
- Deferasirox
- Where
- 6 sites in United States
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Nephropathic Cystinosis
DFT383 in Pediatric Participants With Nephropathic Cystinosis
An open-label, multi-center, phase I/II study to assess the safety, tolerability and efficacy of DFT383 in pediatric participants with nephropathic cystinosis, followed by a long-term extension phase.
- Trial name
- CYStem (NCT06910813)
- Testing
- DFT383
- Where
- 6 sites in United States
- Volunteers
- 30 people
- Sponsor
- Novartis Pharmaceuticals
Fanconi Anemia Complementation Group A
Gene Therapy for Fanconi Anemia, Complementation Group A
The objective of this study is to assess the therapeutic efficacy of a hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A).
- Trial name
- NCT04248439
- Testing
- RP-L102
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Rocket Pharmaceuticals Inc.