Clinical trials: Cystinosis, active
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Fanconi Anaemia
Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
Patients with Fanconi anaemia have an increased risk of developing squamous cell carcinoma of the head and neck. In addition, their genetic vulnerability limits the use of genotoxic treatments such as radiotherapy and…
- Trial name
- Fanc-Oral (NCT07242261)
- Testing
- Oral brushing
- Volunteers
- 115 people
- Sponsor
- Institut Jean-Godinot
SIOD, Cystinosis
Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor
This is a single center, non-randomized, non-controlled open-label phase 1b/2a trial of performing sequential αβdepleted-HSCT and KT in patients requiring KT to prevent kidney rejection post-KT, in the absence of any post-KT…
- Conditions
- SIOD, Cystinosis, FSGS, SLE Nephritis
- Trial name
- NCT05508009
- Testing
- Cyclophosphamide 1200 mg/Kg, Fludarabine, Cyclophosphamide 100 mg/Kg
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Alice Bertaina
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Cystinosis, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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.
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Cystinosis
European Cystinosis Cohort
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe).
- Trial name
- RaDiCo-ECYSCO (NCT05901077)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cystinosis
European Cystinosis Cohort 2
This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement.
- Trial name
- RaDiCo-ECYSCO2 (NCT07680751)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cystinosis
A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
This is a multinational, long-term follow-up study to assess the long-term safety and durability of CTNS-RD-04 treatment in participants who received a single dose administration of lentiviral gene therapy.
- Trial name
- NCT05146830
- Testing
- Safety and Efficacy Assessments
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Stephanie Cherqui
Cystinosis
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival.
- Trial name
- NCT00359684
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Human Genome Research Institute (NHGRI)