Cistinose

PK and PD Study of NPI-001 and Cysteamine Bitartrate

Fase II

NCT05994534

European Cystinosis Cohort

Sem fase

NCT05901077

DFT383 in Pediatric Participants With Nephropathic Cystinosis

Fase II

NCT06910813

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Sem fase

NCT01793168

NCT00359684 · Use of Cysteamine in the Treatment of CystinosisRecrutando

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13 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT05994534 · PK and PD Study of NPI-001 and Cysteamine BitartrateRecrutando

NCT05901077 · European Cystinosis CohortRecrutando

NCT06910813 · DFT383 in Pediatric Participants With Nephropathic Cystinosi…Recrutando

NCT01793168 · Rare Disease Patient Registry & Natural History Study - Coor…Recrutando

NCT03919981 · CYSTEA-BONE Clinical StudyRecrutando

NCT05959668 · Development of Health-related Quality of Life Instrument for…Recrutando

NCT06065852 · National Registry of Rare Kidney DiseasesRecrutando

NCT05508009 · Early Trial of Allogeneic Hematopoietic Stem Cell Transplant…Recrutando

NCT05843851 · Genetic Newborn Screening for Cystinosis and Primary Hyperox…Recrutando

NCT03655223 · Early Check: Expanded Screening in NewbornsPor convite

NCT05146830 · A Long-Term Follow-Up Study of Participants With Cystinosis …Por convite

NCT04246060 · Observational Study to Assess the Quality of Life in Nephrop…Por convite

Outros ensaios clínicos

46 ensaios clínicos encontrados, 14 ativos.

Distribuição por fase

NCT07319091 · Cystinosis and Mitochondrial MetabolismEm breve

NCT00822250 · Clinical and Biological Study of Sub-pigmentation During Inf…Concluído

NCT03897361 · Stem Cell Gene Therapy for CystinosisConcluído

NCT02012114 · A Cohort of Patients With Cystinosis : Compliance to Cysteam…Concluído

NCT05545774 · Neuromuscular Characterisation in Late Adolescent and Adult …Concluído

NCT05687474 · Baby Detect : Genomic Newborn ScreeningConcluído

NCT01197378 · Long-Term Safety Follow-up Study of Cysteamine Bitartrate De…Concluído

PHASE3

Ver todos no ClinicalTrials.gov

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Publicações mais relevantes

Timeline de publicações

527 papers (10 anos)

#1

A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models.

International journal of molecular sciences2026 Feb 08

Cystinosis is a rare autosomal recessive lysosomal storage disorder that is caused by mutations in the CTNS gene. The hallmark of this disease is the accumulation of cystine within lysosomes, which functions as a pivotal diagnostic and monitoring biomarker. Cysteamine therapy has been demonstrated to reduce lysosomal cystine and improve outcomes; however, it does not fully halt progression, particularly renal decline. Consequently, preclinical research relies on diverse in vitro and in vivo models to explore mechanisms and test new treatments. Accurate intracellular cystine quantification is vital for clinical and research purposes. Conventional granulocyte cystine measurement, the prevailing standard, is technically intricate and necessitates volumes of samples, which presents challenges for rodent models. Advancements in analytical chemistry, such as the use of liquid chromatography with tandem mass spectrometry (LC-MS/MS), have enhanced the sensitivity of analytical methods. However, the development of optimized methods for analyzing small volumes of biological samples remains a limitation. This study presents a novel micro-quantification protocol for measuring cystine in a minimal volume of whole blood from rodent models. This protocol enhances the sensitivity, reproducibility, and feasibility of longitudinal studies. Addressing this methodological gap is imperative for accelerating translational research and supporting the development of improved therapies for cystinosis.

#2

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives.

ACS pharmacology & translational science2026 Feb 13

Cystinosis is an inherited lysosomal storage disorder characterized by the intralysosomal accumulation of crystals of cystine. This alteration is caused by the absence of the lysosomal membrane transporter cystinosin, which leads to clinical manifestations of the disease. Oral administration of aminothiol cysteamine, while not a curative therapy, has proven to be effective in controlling the progress of the disease and reducing its complications. However, the numerous side effects inherent to the treatment are responsible for low patient compliance, severely impacting therapy success. Several studies have been performed in the past few years with the aim of optimizing cysteamine therapy to avoid its main drawbacks. This review focuses on the potential and feasibility of these novel strategies. As well, it introduces novel recent approaches studied as an alternative or complement to cysteamine treatment.

#3

Hematopoietic Stem-Cell Gene Therapy for Cystinosis.

The New England journal of medicine2026 Feb 19

Cystinosis is a multisystemic lysosomal storage disorder caused by pathogenic variants in CTNS, the gene encoding cystinosin, a lysosomal transmembrane cystine transporter. In patients with cystinosis, cystine accumulates within lysosomes in all organs. The cystine-depleting agent cysteamine delays but does not prevent disease progression. In this phase 1-2, open-label, ongoing clinical study, we performed a preliminary assessment of CTNS-RD-04, which consists of autologous CD34+ cells transduced with lentiviral vectors carrying CTNS complementary DNA, in patients with cystinosis. The primary end points were the safety and the side-effect profiles of CTNS-RD-04. Secondary end points were measures of efficacy, including white-cell cystine levels and cystine storage depletion. Oral cysteamine was withdrawn before CTNS-RD-04 infusion, and cysteamine eyedrops were withdrawn 1 month after myeloablation. Six participants (20 to 46 years of age) received CTNS-RD-04 and were followed for 29 to 63 months. CTNS-RD-04 doses ranged from 3.63×106 to 9.59×106 CD34+ cells per kilogram of body weight, and vector copy numbers ranged from 0.59 to 2.91 copies per diploid genome. All the patients had sustained and highly polyclonal hematopoietic reconstitution; vector copy numbers at 24 months ranged from 0.51 to 2.67 copies per diploid genome. A total of 217 adverse events occurred, most of which were mild or moderate in severity and largely consistent with the procedures and underlying disease. No evidence of monoclonal expansion was noted. White-cell cystine levels decreased from baseline except in Patient 4, who had the lowest vector copy number. In this small study, CTNS-RD-04, an ex vivo gene therapy for cystinosis, had adverse effects that were largely consistent with the myeloablative regimen and underlying disease profile. White-cell cystine levels decreased after therapy. (Funded by the California Institute for Regenerative Medicine and others; ClinicalTrials.gov number, NCT03897361.).

#4

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads.

International journal of molecular sciences2026 Jan 08

Cystinosis is a rare lysosomal storage disorder characterized by defective cystine transport and progressive multi-organ damage, with the kidney being the primary site of pathology. In addition to the traditional perspective on lysosomal dysfunction, recent studies have demonstrated that cystinosis exerts a substantial impact on cellular energy metabolism, with a particular emphasis on oxidative pathways. Mitochondria, the central hub of ATP production, exhibit structural abnormalities, impaired oxidative phosphorylation, and increased reactive oxygen species. These factors contribute to proximal tubular cell failure and systemic complications. This review highlights the critical role of energy metabolism in cystinosis and supports the emerging idea of organelle communication. A mounting body of evidence points to a robust functional and physical association between lysosomes and mitochondria, facilitated by membrane contact sites, vesicular trafficking, and signaling networks that modulate nutrient sensing, autophagy, and redox balance. Disruption of these interactions in cystinosis leads to defective mitophagy, accumulation of damaged mitochondria, and exacerbation of oxidative stress, creating a vicious cycle of energy failure and cellular injury. A comprehensive understanding of these mechanisms has the potential to reveal novel therapeutic avenues that extend beyond the scope of cysteamine, encompassing strategies that target mitochondrial health, enhance autophagy, and restore lysosome-mitochondria communication.

#5

Genetic predisposition to porto-sinusoidal vascular disorder.

Hepatology (Baltimore, Md.)2026 Feb 01

Porto-sinusoidal vascular disorder (PSVD) is a rare liver disease. The pathophysiological mechanisms underlying the development of PSVD are unknown. Isolated cases of PSVD associated with gene mutations have been reported, but no overview is available. Therefore, we performed an extensive literature search to provide a comprehensive overview of gene mutations associated with PSVD. We identified 34 genes and 1 chromosomal abnormality associated with PSVD in the literature, and we describe here 1 additional gene mutation ( TBL1XR1 mutation, leading to Pierpont syndrome). These gene mutations are associated either with extrahepatic organ involvement as part of syndromes (Adams-Oliver, telomere biology disorders, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, immune deficiencies, cystic fibrosis, cystinosis, Williams-Beuren, Turner, Pierpont) or with isolated PSVD ( KCNN3 , DGUOK , FOPV , GIMAP5 , FCHSD1 , TRMT5 , HRG gene mutations). Most of the cases were revealed by signs or complications of portal hypertension. When analyzing the cell types in which these genes are expressed, we found that these genes are predominantly expressed in immune cells, suggesting that these cells may play a more important role in the development of PSVD than previously thought. In addition, pathway analyses suggested that there may be 2 types of PSVD associated with gene mutations: those resulting directly from morphogenetic abnormalities and those secondary to immune changes.

Publicações recentes

A novel gene therapy approach for nephropathic cystinosis.

Nat Rev Nephrol2026 Mar 31

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations.

Saudi J Kidney Dis Transpl2026 Jan 1

A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm.

Front Nephrol2026

Intracranial Hypertension in Nephropathic Cystinosis: A Paediatric Case and Literature Review.

J Paediatr Child Health2026 Mar 26

Cystinosin regulates Na(+)/H(+) exchanger 3 trafficking and function in kidney proximal tubular cells.

EMBO Rep2026 Mar 24

Ver todas no PubMed

📚 EuropePMC1.215 artigos no totalmostrando 196

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells.

EMBO reports

Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway.

Successful Surgical Sperm Extraction in a Patient With Cystinosis.

A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models.

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.

BMC genomic data

ACS pharmacology & translational science

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives.

The New England journal of medicine

Gene Therapy for Nephropathic Cystinosis.

The New England journal of medicine

Hematopoietic Stem-Cell Gene Therapy for Cystinosis.

American journal of ophthalmology

Comprehensive Ocular Characteristics in Cystinosis after Hematopoietic Stem-Cell Gene Therapy Over 24 Months.

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads.

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.

International journal of pharmaceutics

Cysteamine-eluting contact lenses: integrating in vitro, in vivo, and in silico approaches for ocular drug delivery.

Cystinosis is Associated with Deficits in Muscle Mass, Strength and Hip Bone Density in Children and Young Adults.

Kidney360

Nephropathic cystinosis: fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine.

Case reports in ophthalmology

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia.

Nature communications

Journal of cachexia, sarcopenia and muscle

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

Gene Therapies: Any Merit in Nephrology?

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients.

Scientific reports

The assessment and treatment of the musculoskeletal manifestations of cystinosis.

Frontiers in nephrology

Neuroretinal structure changes in infantile nephropathic cystinosis.

Phenotypic variability in cystinosis: Lessons from an atypical case.

Nefrologia

From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis.

CRISPR and gene editing for kidney diseases: where are we?

Frontiers in cell and developmental biology

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.

Experimental and molecular pathology

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.

Ophthalmology and therapy

Cystadrops® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years.

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.

Children (Basel, Switzerland)

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.

QJM : monthly journal of the Association of Physicians

Ocular manifestations and multimodal imaging in infantile nephropathic cystinosis.

Serum N-glycosylation is altered in Nephropathic Cystinosis.

Glycobiology

A puzzling renal Fanconi syndrome.

International journal of surgical pathology

Nasopharyngeal Cystine Crystal Deposition Postrenal Transplant: Case Report and Review of a Rare Cystinosis Manifestation.

Cystinosis symposium: a rare disease model for comprehensive care.

Enhancing Cystinosis Health Care Transition Outcomes: Insights from the RISE Protocol.

JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux.

Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned.

Molecular genetics and metabolism reports

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.

Perspectives: Mental health challenges and medical trauma: focus on cystinosis patients and caregivers.

Clinical journal of the American Society of Nephrology : CJASN

Nutrition across the Entire Lifespan in CKD: From Childhood to Senescence.

Ophthalmology and therapy

The Use of a Viscous Cysteamine Eyedrop in a Belgian Cohort: Early 3-Year Results.

Emerging therapeutic strategies for cystinosis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Neurological involvement in 51 cystinosis patients: A single-center experience.

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old: A case report.

Medicine international

Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis.

Autophagy reports

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

BMC genomic data

Long-term outcomes in nephropathic cystinosis: a review.

Drug-induced acute pancreatitis following dose increase of mycophenolate mofetil in a kidney transplant recipient: A case report and literature review.

Transplant immunology

American journal of human genetics

Advancing precision care in pregnancy through a treatable fetal findings list.

Italian journal of pediatrics

Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience.

Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.

Muscle & nerve

Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis.

Transitioning Care in Nephropathic Cystinosis: Overcoming Challenges in Young Adults.

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care.

Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult.

Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model.

Cell transplantation

Novel mechanism for tubular injury in nephropathic cystinosis.

eLife

Cystinosin is involved in Na+/H+ Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis.

Journal of translational medicine

Targeting oxidative stress-induced lipid peroxidation enhances podocyte function in cystinosis.

Cerebellum (London, England)

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.

Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.

Artificial intelligence enhanced microfluidic system for multiplexed point-of-care-testing of biological thiols.

Talanta

Journal of leukocyte biology

Nexinhib20 inhibits JFC1-mediated mobilization of a subset of CD11b/CD18+ vesicles decreasing integrin avidity, but does not inhibit Rac1.

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

Theranostic Contact Lens for Ocular Cystinosis Utilizing Gold Nanoparticles.

Biosensors

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.

JIMD reports

Patient journey in cystinosis: focus on non-adherence and disease management.

Drugs in context

Journal of pediatric ophthalmology and strabismus

Ocular Cystinosis Experience in Southwestern Ontario.

Clinical ophthalmology (Auckland, N.Z.)

An Open-Label, Phase III Study to Assess the Efficacy and Safety of Cysteamine Ophthalmic Solution 0.55% in Japanese Cystinosis Patients.

Medicina (Kaunas, Lithuania)

Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

Genes

European journal of pediatrics

Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.

Immunomodulatory effects of cysteamine and its potential use as a host-directed therapy for tuberculosis.

Frontiers in immunology

Ocular Involvement in Infantile Cystinosis: A Case Report.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts.

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.

Molecular and cellular biology

Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis.

Frontiers in pharmacology

Mitigative role of cysteamine against unilateral renal reperfusion injury in Wistar rats.

The British journal of ophthalmology

Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients.

Journal of the American Society of Nephrology : JASN

Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.

Italian journal of pediatrics

Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.

Journal of cachexia, sarcopenia and muscle

Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder.

Turkish journal of ophthalmology

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis.

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder.

Pharmacy (Basel, Switzerland)

Adherence to Cysteamine Therapy Among Patients Diagnosed with Cystinosis in Saudi Arabia: A Prospective Cohort Study.

Intermediate cystinosis: a case report of 10-year treatment with cysteamine.

BMC nephrology

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Frontiers in genetics

[Kidney involvement in rare hereditary diseases].

Terapevticheskii arkhiv

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Long-term effects of luteolin in a mouse model of nephropathic cystinosis.

Children (Basel, Switzerland)

Chronic Kidney Disease and Growth Failure in Children.

Failure to Thrive With Severe Hypokalemia Yields Cystinosis Diagnosis in a 19-Month-Old Female Child: A Case Report.

The Journal of clinical endocrinology and metabolism

Cystinosis-Associated Metabolic Bone Disease Across Ages and CKD Stages 1 to 5D/T.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Multiple antimicrobial and immune-modulating activities of cysteamine in infectious diseases.

Journal of the American Society of Nephrology : JASN

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.

Hepatology (Baltimore, Md.)

Genetic predisposition to porto-sinusoidal vascular disorder.

Cysteamine Suppresses Cancer Cell Invasion and Migration in Glioblastoma through Inhibition of Matrix Metalloproteinase Activity.

Cancers

Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis.

Practical neurology

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis.

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years.

Pharmaceuticals (Basel, Switzerland)

A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients.

Indian journal of nephrology

Cystinosis Registry of India: Data Analysis of Patients with Cystinosis.

Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice.

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis.

Frontiers in immunology

Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series.

Eye & contact lens

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model.

Cells

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

American journal of physiology. Renal physiology

MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.

Advanced biomedical research

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.

Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?

Kidney international

Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.

Fibrosing colonopathy associated with cysteamine bitartrate delayed-release capsules in cystinosis patients.

Frontiers in pharmacology

Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons.

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience.

Fertility Management in Cystinosis: A Clinical Perspective.

A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis.

Clinical journal of the American Society of Nephrology : CJASN

Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis.

Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature.

Transplant immunology

Extrarenal complications of cystinosis.

Journal of the neurological sciences

Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity.

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).

Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.

Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom.

BMC nephrology

Cystinosis: Status of research and treatment in India and the world.

Journal of biosciences

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.

Scientific reports

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Clinical genetics

Cysteamine Eye Drops in Hyaluronic Acid Packaged in Innovative Single-Dose Systems, Part II: Long-Term Stability and Clinical Ocular Biopermanence.

Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.

Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives.

Seminars in nephrology

Laboratory investigation; a journal of technical methods and pathology

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.

Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content.

Scientific reports

Advances in pharmacological and pharmaceutical sciences

A Review on the Antimutagenic and Anticancer Effects of Cysteamine.

Ocular manifestations of the genetic renal tubulopathies.

Ophthalmic genetics

The Turkish journal of pediatrics

Pattern of hereditary renal tubular disorders in Egyptian children.

The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis.

Autophagy

Fibrosing Colonopathy Presenting in a Patient with Cystinosis.

JPGN reports

Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis.

Rescue of Alzheimer's disease phenotype in a mouse model by transplantation of wild-type hematopoietic stem and progenitor cells.

Cell reports

The Journal of clinical investigation

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.

Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations).

Research square

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.

Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization.

Nature communications

Journal of pediatric endocrinology & metabolism : JPEM

Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies.

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.

A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.

Journal of anesthesia, analgesia and critical care

A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the "pocus force".

The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.

The ocular surface

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to "A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis").

Nephrology (Carlton, Vic.)

Utility of post-transplant native nephrectomy in children with nephropathic cystinosis: A single centre retrospective study.

The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study.

Journal francais d'ophtalmologie

In vivo confocal microscopy for ocular surface investigation in nephropathic cystinosis.

Journal francais d'ophtalmologie

Corneal cystinosis following eight years of systemic and topical treatment.

Event-related potential (ERP) evidence of early visual processing differences in cystinosis.

Clinical significance of hypouricemia in children and adolescents.

Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.

[The Eye as a Window to Cystinosis].

[Cystinosis: From the gene identification to the first gene therapy clinical trial].

Medecine sciences : M/S

Indian journal of pediatrics

Nephrogenic Diabetes Insipidus in a 10-mo-old Infant: Complication of Nephropathic Cystinosis.

Health-related quality of life and patient-reported outcome measurements in patients with cystinosis.

JIMD reports

Behavioral sciences (Basel, Switzerland)

Schizophrenia Misdiagnosis after Capgras and Cotard Delusions in a Patient with Infantile Cystinosis, Cavum Septi Pellucidi, Cavum Vergae and Cavum Veli Interpositi.

Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.

Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis.

Cornea

World journal of pediatrics : WJP

Inherited Fanconi syndrome.

Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis.

Annals of African medicine

Tenofovir as a cause of acquired fanconi's syndrome.

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

Genes

Thermo-responsive and mucoadhesive gels for the treatment of cystinosis.

Biomaterials advances

Experimental eye research

The TGM2 inhibitor cysteamine hydrochloride does not impact corneal epithelial and stromal wound healing in vitro and in vivo.

Accelerated Corneal Crosslinking for Treatment of Keratoconus in Children and Adolescents under 18 Years of Age.

Polish archives of internal medicine

Cystinosis: a rare multisystem disease.

A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis.

Journal of medical case reports

Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Reliability analysis of successive Corvis ST® measurements in keratoconus 2 years after accelerated corneal crosslinking compared to untreated keratoconus corneas.

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.

Human molecular genetics

Cysteamine Eye Drops in Hyaluronic Acid Packaged in Innovative Single-Dose Systems: Stability and Ocular Biopermanence.

Metabolic Advantage of 25(OH)D3 versus 1,25(OH)2D3 Supplementation in Infantile Nephropathic Cystinosis-Associated Adipose Tissue Browning and Muscle Wasting.

Cells

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.

Clinical genetics

The American Journal of dermatopathology

Dermal Cystine Crystals: An Incidental Finding During Mohs Surgery.

Journal of inherited metabolic disease

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

In vitro activity of cysteamine against SARS-CoV-2 variants.

Structure and mechanism of human cystine exporter cystinosin.

Cell

Advances in chronic kidney disease

Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.

Frontiers in pharmacology

Cysteamine affects skeletal development and impairs motor behavior in zebrafish.

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.

Medical journal of the Islamic Republic of Iran

Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study.

Polish archives of internal medicine

Nephropathic cystinosis in Poland: a 40-year retrospective study.

Structural basis for proton coupled cystine transport by cystinosin.

Nature communications

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.

Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys.

A Successful Adolescent Pregnancy in a Patient With Cystinosis and CKD Not Yet on Kidney Replacement Therapy.

International journal of pharmaceutics

Ocular biodistribution of cysteamine delivered by a sustained release microsphere/thermoresponsive gel eyedrop.

Indian journal of ophthalmology

Importance of adherence to topical cysteamine in infantile ocular cystinosis: An illustrative case.

Journal of inherited metabolic disease

Pregnancy in cystinosis patients with chronic kidney disease: A European case series.

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.

Ver todos os 1.215 no EuropePMC

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