Research

• Characterisation of early kidney injury in the Ctns-/- rat model of cystinosis - Prof Alan Davidson, University of Auckland - Award Amount €10,771.

• Whole Genome Sequencing in Cystinosis Subjects for Actionable Insights into Post-Transplant Complications - Dr Brendan Keating, New York University - Award amount €12,000.

1. Equipment Support for the cystinosis research lab in UCC - Dr Jennifer Hollywood, University College Cork - Award Amount €3,000.

1. Development of a fluorescence-based assay for the detection of methanethiol as a cysteamine metabolite in biochemical and cellular contexts – Dr Stephanie Myers, The University of Sunderland - Award Amount €10,000.

1. Evaluate the protective effect of Astaxanthin for the treatment for nephropathic cystinosis in a cystinotic rat model – Prof Minnie Sarwal, UCSF, Amount awarded: CI total contribution €149,654. (Total joint funding value: € 344,204).

1. Sustained delivery of cysteamine prodrugs from nanobarrier contact lenses – Prof Anuj Chauhan, Colorado School of Mines, Amount awarded: CI total contribution € 149,654. (Total joint funding value: €344,204).

Generation Ctns-/- mouse on a FVB/N genetic background and comparison with C57BL/6 animals – Dr Francesco Bellomo, Bambino Gesù Children’s Hospital IRCCS, €19,870.

1. Investigating the potential of CTNS-mRNA loaded nanoparticles as a new therapeutic strategy for nephropathic cystinosis - Prof Elena Levtchenko, Amsterdam University Medical Centre. Amount awarded: CI total contribution €76,200. (Total joint funding value: €152,400).

Clinical and Molecular Assessments of Male Infertility in Cystinosis – Prof Minnie Sarwal, UCSF, California, US – Amount Awarded: €300,000.  This project is co-funded on a 50:50 basis with Cystinosis Research Network (US).

Deciphering the molecular basis for how combination Cysteamine/Everolimus treatment protects against kidney damage in cystinotic rats - Dr Jennifer Hollywood and Dr Alan Davidson, University of Auckland - Amount Awarded €12,000. To find out more, you can find a lay summary here.

The Educational and Psychosocial Experiences of Young People Living with Cystinosis: Barriers, Challenges and Facilitators Experienced Across the Irish Education System – Prof Joyce Senior, UCD – Amount Awarded €20,000.

1. Evaluation of a novel drug combination treatment for nephropathic cystinosis in a new cystinotic rat model – Dr Jennifer Hollywood, University of Auckland. Amount awarded: CI total contribution €99,094. (Total joint funding value: €198,188).

1. Safety and efficacy of cysteamine loaded contact lenses – Prof Anuj Chauhan, Colorado School of Mines, Colorado, US – Amount Awarded: €150,000.  This project was co-funded on a 50:50 basis with Cystinosis Foundation UK.

1. Study of muscular disease in nephropathic cystinosis – Prof Elena Levtchenko, UZ Leuven, BE / Associate Prof Rik Gijsbers KU Leuven, BE – Amount Awarded: €100,000.  This project was co-funded on a 50:50 basis with Cystinosis Foundation UK. For more about this project, read here.

1. Serum IgG Glycosylation in Cystinosis (SIGIC) – Prof Atif Awan, CUH Temple Street & Dr Roisin O’Flaherty, NUI Maynooth, Ireland – Amount Awarded €10,000.

2. Generation of CTNS and MFSD12 double knockout induced pluripotent stem cell lines to test if MFSD12 is a candidate therapeutic target for a new class of cystinosis drugs – Dr Jennifer Hollywood,  University of Auckland –  Amount Awarded €10,216.

3. New solid forms of cysteamine therapeutics – Dr Oisín Kavanagh Amount, Newcastle University. Amount Awarded €10,000.

1. Literature review of cystinosis and key areas – Michael Deane, University College Cork, IE – Award Amount: €4,356 (Summer studentship)

2. IMPACT Study – Dr Katharina Hohenfellner, Klinik für Kinder- und Jugendmedizin – Kindernephrologie, DE – Award Amount: €20,000

3. Biomaterial-mediated delivery of CTNS gene for ocular cystinosis – Dr Valeria Graceffa, Institute of Technology, Sligo, IE – Award Amount: €9,990

1. Characterisation of a novel cystinosin transporter knockout rat model – Dr Manoe Janssen, University of Utrecht, NL – Award Amount: €10,000

2. A pilot study to holistically target dysfunctional pathways in cystinosis: Drug repurposing with gene expression connectivity mapping – Dr Shu-Dong Zhang, University of Ulster, Northern Ireland – Award Amount: €9,908

3. Endogenous tagging of CTNS using CRISPR/Cas9 – Professor Elena Levtchenko, UZ Leuven, Belgium – Award Amount: €10,000

1. Targeting Autophagy in Nephropathic Cystinosis: generation of CTNS mutant cell lines by CRISPr/Cas9 gene editing – Dr James Murray, TCD, Ireland and Professor Minnie Sarwal, University of California, San Francisco, USA – Award Amount: €8,600

2. Characterisation of a novel cystinosin transporter knockout rat model – Dr Jennifer Hollywood, University of Auckland, NZ – Award Amount: €10,000

1. Dose Escalation Study to Demonstrate Safety of Cysteamine Releasing Contact Lens – Professor Anuj Chauhan, University of Florida, USA – Award Amount: €10,000

1. Unravelling the mechanisms of azoospermia and potential future treatments in male cystinosis patients – Professor Elena Levtchenko, UZ Leuven, Belgium – Award Amount: €200,000

2. Targeting Autophagy in Nephropathic Cystinosis – Professor Minnie Sarwal, University of California, San Francisco, USA – Award Amount: €300,000

1. Drug Eluting Contact Lenses for Cystinosis Therapy – Professor Anuj Chauhan, University of Florida, USA – Award Amount: €72,000

2. Modelling Cystinosis with Human Stem Cells and the Therapeutic Potential of Aspartate – Professor Alan Davidson, University of Auckland, NZ and Dr Patrick Harrison, University College Cork, Ireland – Award Amount: €288,000

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

• This review explains that cysteamine, the main treatment currently used for cystinosis, is very important but cannot fully stop the disease from getting worse. Many people also find it difficult to take long‑term because of side effects and the strict dosing schedule. Because of these limits, researchers are exploring new treatments that could work alongside cysteamine or help with parts of the disease that cysteamine does not address.  Some of these new approaches aim to protect cells and organs by improving how cells produce energy, handle stress, and clear waste. These treatments may help slow damage to organs even if cystine levels are not completely reduced. Importantly, many of these approaches could be added to existing treatment in the near future.  The review also looks at newer options such as gene therapy, stem‑cell treatments, and mRNA‑based therapies, which aim to fix the disease at its genetic cause. These approaches could one day offer a long‑lasting or curative treatment, but they are more complex and will take time before they are widely available. Overall, the authors suggest that the most realistic path forward is combining cysteamine with new supportive or corrective treatments, to improve health outcomes while keeping treatment practical for patients. Learn More

Gene Therapy for Nephropathic Cystinosis.

• This article discusses an important new development in the treatment of nephropathic cystinosis, a rare genetic disease. For many years, treatment has relied on a medicine called cysteamine, which has helped people live longer but does not cure the disease. Many patients still develop kidney problems and other health issues and must take the medication for life. The editorial explains how a new gene therapy approach could change this. The treatment uses a person’s own blood stem cells, which are corrected in the laboratory to fix the faulty CTNS gene that causes cystinosis. These corrected cells are then returned to the patient. Early clinical evidence shows that this approach can lower harmful cystine levels in the body, help protect kidney function, and improve problems in other organs. Because the cells come from the patient themselves, this approach avoids some of the serious risks linked to donor transplants. However, the article also points out that gene therapy is complex, expensive, and not yet widely available, and it involves intensive medical procedures. For these reasons, cysteamine treatment will remain important for many patients, especially in the near future. Overall, the editorial concludes that gene therapy represents a major step forward and could one day work alongside or in sequence with existing treatments, bringing the field closer to a long‑term or even curative solution for cystinosis. Learn More

Successful Surgical Sperm Extraction in a Patient With Cystinosis.

• In men with cystinosis, infertility is common, and many are thought to be unable to produce sperm. However, there has been very little information about whether sperm can still be retrieved in these patients.  This article describes the case of a man in his thirties with cystinosis who was unable to produce sperm naturally. Although his hormone levels showed signs of testicular stress, further testing found no major genetic problems related to fertility. Doctors performed a surgical procedure to look directly inside the testes and were able to find and collect healthy sperm. The sperm were frozen and later used in an in vitro fertilisation (IVF) procedure.  Using the surgically retrieved sperm, the man’s partner successfully became pregnant and gave birth to a healthy baby boy. This case shows that fertility treatment may be possible for some men with cystinosis, even when sperm are not present in semen samples. The study provides valuable new information showing that surgically retrieved sperm from men with cystinosis can remain usable after freezing and can lead to successful pregnancies.  Overall, this report offers hope and important guidance for men with cystinosis who wish to have children, and it supports further research into fertility options for people living with this condition. Learn More

Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads. Dr Francesco Bellomo.

• This review is the cover story on the Journal IJMS | January-2 2026 - Browse Articles 

  This review explains how problems with energy production inside cells play a major role in cystinosis. It highlights new research showing that lysosomes and mitochondria—two key cell structures—normally communicate closely to regulate energy, recycling, and stress responses. In cystinosis, this communication breaks down. As a result, damaged mitochondria build up, energy production drops, and harmful oxidative stress increases, which worsens cell injury. Understanding these disrupted interactions may lead to new treatments that focus on improving mitochondrial function, boosting the cell’s clean-up processes, and repairing communication between lysosomes and mitochondria, going beyond what current therapies can offer.  Learn More

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

• The study tested specially designed contact lenses that slowly release the medication cysteamine into the eye. These lenses contain added vitamin E, which acts like a barrier to make the drug release more slowly and steadily. Researchers found that adding vitamin E to the lenses greatly increased how long the medication stayed in the eye—from just a few minutes to several hours. In animal testing, the lenses delivered much more medication than standard eye drops, including to deeper parts of the eye. A mathematical model confirmed that the results matched what would be expected from how the lenses release the drug. Overall, the study shows that these vitamin‑E–enhanced contact lenses could be a promising way to replace the need for many daily eye‑drop doses by providing longer‑lasting, more effective delivery of cysteamine. Learn More

Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.

• This study looked at swallowing problems in people with nephropathic cystinosis. They prospectively evaluated patients who had participated in a prior clinical trial readiness study of myopathy and dysphagia, using functional outcomes and video fluoroscopic swallowing studies. Eight patients were tested over time using swallowing exams and quality-of-life surveys. The results showed that all patients had trouble swallowing, especially in the mouth and throat stages. Over time, some improved in the mouth stage and reported a better quality of life, even though the throat stage issues stayed the same. This suggests that certain therapies or repeated testing might help improve swallowing in these patients. Learn More

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

• The authors describe the diagnosis, management, and disease progression of cystinosis in 2 siblings who are presumed to carry the same CTNS variants and highlight the potential differences in outcomes relative to age at diagnosis. Learn More

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

• New challenges have emerged around the transition from paediatric to adult care and ongoing multidisciplinary management, including fragmented coordination, decreased patient engagement, and worsening extrarenal outcomes. This study presented on a young adult with cystinosis who transferred to adult nephrology through a specialized transition clinic aimed at overcoming these obstacles. Learn More

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

• The usual treatment, cysteamine, helps reduce cystine buildup but doesn’t stop kidney damage, meaning something else is causing harm. The researchers found that in cystinosis, podocytes are damaged by too much stress in their energy centers (mitochondria). This stress causes a type of cell death that weakens the kidneys. By reducing this stress and protecting the cell membranes, scientists improved podocyte health in lab tests and in a zebrafish model of the disease. This discovery suggests new treatment possibilities to better protect the kidneys in cystinosis patients. Learn More

Latest publication on identification of a new pathway and genes responsible for kidney damage in Nephropathic cystinosis, not related to cysteine accumulation and not revered by cysteine depletion. 

• Prof Minnie Sarwal and Dr Swastika Sur.  https://elifesciences.org/reviewed-preprints/94169   Cysteamine has had an amazing impact on the life of people living with cystinosis. It works by removing cystine from small vesicles called lysosomes inside all cells of a human body. Cystine accumulates there because of a lack of functioning of a cystine transporter protein (the CTNS gene product) in the membrane surrounding these lysosomes that would normally take care of the removal.  However, not all symptoms of cystinosis are successfully treated by taking cysteamine and there are many reports that Fanconi Syndrome in and kidney malfunction are only delayed by taking cysteamine. End stage kidney failure will happen much later when taking the drug, but it still occurs in most cases in the first decades of life of a young person living with cystinosis.  The recently published new study by Prof Sarwal and Dr Sur is investigating why the removal of cystine appears to be insufficient to prevent kidney disease. They have found experimental evidence in research funded by Cystinosis Ireland and the HRB that defective lysosomes (small vesicles in every cell, important for removing many cellular waste products such as badly made proteins or broken pieces of cell organelles) could be the reason for kidney damage in cysteamine-treated cystinosis patients.  In experiments on kidney cells that were isolated from cystinosis patients and in kidney cells where experimental cystinosis was induced using molecular biology tools, they observed that the health status of these kidney cells can be improved using two different mechanisms. Either they restored the function of a pump that makes the inside of the lysosomes more acidic (improving lysosome function) or they treated the cells with a drug called Astaxanthin. Astaxanthin is a drug that is already approved as a food supplement for the treatment of diseases where cells suffer oxidative damage.  These results make it possible to consider further investigations to see, if Astaxanthin can treat or prevent kidney damage in cystinosis patients.

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

• The review identifies several key recommendations to improve coordinated, patient‑centred care for individuals with cystinosis. These focus on reducing fragmentation, strengthening collaboration, and supporting patients, families, and clinicians.  1. Strengthen Multidisciplinary Care Models Build and maintain care teams involving nephrologists, nurses, pharmacists, dietitians, social workers, and multiple subspecialists (neurology, ophthalmology, endocrinology, gastroenterology, orthopedics). Ensure all specialists are familiar with cystinosis care needs so management remains consistent and timely.   2. Improve Care Coordination and Communication Create streamlined systems that allow different specialists to communicate efficiently across pediatric and adult services.  Reduce fragmentation by designating clear care “quarterbacks” (often nephrologists) who oversee and integrate care across specialties.    3. Enhance Transition From Pediatric to Adult Care Support patients as they move from child to adult services through structured transition planning. Ensure adult‑care teams are equipped to manage the now more prominent extrarenal complications.  Learn More

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

• There is the suggestion that CTNS exerts additional functions besides cystine transport. This study investigated the impact of infantile and juvenile CTNS to better understand the link between genotype and CTNS function. The findings shed new light on CTNS mutations, highlighting the need for robust assessment methodologies in clinically relevant cellular models and thus paving the way for better stratification of cystinosis patients, and advocating for the development of more personalized therapy. Part funded by Cystinosis Ireland. Learn More

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

• The authors previously proposed chitotriosidase enzyme activity as a potential novel biomarker for the therapeutic monitoring of cysteamine treatment in cystinosis. In this study, they aimed to validate their previous findings and to confirm the value of chitotriosidase in the management of cystinosis therapy. Plasma chitotriosidase enzyme activity significantly correlated with WBC cystine levels, cysteamine total daily dosage and a Composite compliance score. Moreover, plasma chitotriosidase was a significant independent predictor for WBC cystine levels. Chitotriosidase enzyme activity is a valid potential alternative biomarker for monitoring cysteamine treatment in nephropathic cystinosis patients. Learn More

MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis. Prof Elena Levtchenko and Prof Rik Gijsbers.

• MFSD12 is a lysosomal cysteine importer, that directly affects the cystine levels in melanoma cells, HEK293T cells, and cystinosis patient-derived fibroblasts. In this study, the authors aimed to evaluate MFSD12 mRNA levels in cystinosis patient-derived proximal tubular epithelial cells (ciPTECs) and to study the effect of MFSD12 knockout on cystine levels. MFSD12 mRNA depletion reduced cystine levels in both patient derived ciPTEC (CTNSΔ57kb) and zebrafish models without improvement of the proximal tubular function in the ctns-/- zebrafish embryo. Further evaluation is needed. Learn More

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

• The purpose of this study was to evaluate the effectiveness and safety of switching from immediate-release (IR) to extended-release (ER) cysteamine in patients with nephropathic cystinosis (NC) in Spain. Nine patients (four children, five adults)were included 36 months before and after the switch. Despite the highly selected population, an improvement in growth, particularly in children and a significant reduction in hospitalization days was observed. A decrease in halitosis, body odour and gastrointestinal effects was reported in most of the patients who suffered before the switch, and the use of proton pump inhibitors (PPIs) decreased in some patients. Switching from IR to ER cysteamine in clinical practice reduces hospital stays, improves nutritional status and growth in paediatric patients and could help to enhance treatment tolerability by reducing side effects. Furthermore, the dosing of ER cysteamine could promote therapeutic compliance and positively affect the quality of life of the NC population. Learn More 

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

• The authors presented data to indicate that Nlrp2 (a protein part of the inflammasome complex, which plays a crucial role in innate immunity) is a potential pharmacological target for delaying progression of kidney disease in cystinosis.  They observed that although genetic ablation of Nlrp2 did not abolish the development of Fanconi syndrome or renal parenchymal lesions, it did delay it. Learn More

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

• This study aimed to investigate the mutations of the CTNS gene in 20 Iranian patients suffering from Nephropathic Cystinosis. At first, the authors searched for the 57 kb deletion, but none of the 20 patients had it. Two new mutations, c.971972insC and c.956956delA, which have not been reported before, were found. The other mutations were those previously reported/found. Learn More

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

• The objective of this report was to identify and characterize cases of fibrosing colonopathy (a condition that effects the colon casing it to swell, shorten and scar), a rare and underrecognized adverse event, associated with cysteamine delayed-release (DR) in patients with nephropathic cystinosis. The authors looked at 4 cases of fibrosing colonopathy reported with the use of cysteamine DR and prompted regulatory action by the FDA. Healthcare professionals should be aware of the potential risk of fibrosing colonopathy with cysteamine DR, especially as symptoms can be non-specific leading to misdiagnosis or delayed diagnosis. If the diagnosis of fibrosing colonopathy is confirmed, consideration should be given to permanently discontinuing cysteamine DR and switching to cysteamine immediate-release treatment. Learn More

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

• This work aims to build up a comprehensive study about commercialized and magistral CYA eye drops, involving pharmacokinetic and physicochemical characterization, as well as ex vivo tests, well supported by statistical analysis since the only available eye drops Cystadrops® are scare and commercially available with strong limitations. The results show that the physicochemical properties (viscosity, mucoadhesivity, dissolution, and lipid membrane permeability) of Cystadrops® are more favourable than CYA-CED regarding expected pharmacokinetic properties that are relevant in the ophthalmic approach. However, the nearly equivalent ex vivo pharmacokinetic profile obtained in studies on porcine eyes suggests that CYA-CED can serve as a suitable alternative in case of difficulty in supplying Cystadrops®, which can reduce the risk of possible interruptions in patient care. Learn More

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

• Detailed reports on preoperative and Long-term postoperative management in kidney transplant (KT) patients remain sparse. This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT. Following KT, both patients experienced regained renal function, resolution of extrarenal complications, and normalization of laboratory parameters. Furthermore, both patients showed excellent postoperative outcomes with no acute rejection or allograft-related complications. KT is the treatment of choice for cystinosis patients with ESRD. Long-term follow-up post-transplantation is crucial to maintain good graft function. Further studies may elucidate optimal pre- and postoperative management protocols for this rare condition.             Learn More

Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.

• There is a lack of clinical data and guidance to inform GI-related monitoring, interventions, and referrals by nephrologists. The aim was to review GI sequelae associated with cystinosis and its treatments and to discuss approaches for monitoring and managing these complications, including the involvement of gastroenterology and other disciplines. The authors wrote an array of issues and in the end they suggested: Given the profound impact of GI symptoms and the complexity of untangling and addressing their many causes, three key imperatives emerged from this review and discussionLearn More

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

• This study examined whether inhibiting the megalin pathway in adult cystinotic mice by dietary supplementation with lysine or arginine, both of which are used to treat patients with other rare metabolic disorders, could also decrease renal cystine accumulation and protect cystinotic kidneys. Results showed dietary manipulation, with both supplements, of the megalin pathway in kidneys is feasible, tolerable and can be effective in vivo. Learn More

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

• This was a long-term study that explored the effects of transitioning from immediate release (IR) (Cystagon®, Recordati Rare Diseases, Puteaux, France) to extended release (ER) (Procysbi®, Horizon Therapeutics, USA, and Chiesi Farmaceutici S.p.A, Parma, Italy) formulation in 10 Norwegian patients in routine clinical care. The results indicate that switching from IR- to ER-cysteamine was feasible and well tolerated under routine clinical practice. ER-cysteamine allowed satisfactory disease control over the long period considered. Learn More   

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

• This study identified mechanisms and therapeutic targets for dysregulated homeostasis in cystinosis. Learn More

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

• The authors describe a consensus-based guidance to support the management of adolescents and adults living with cystinosis. The topics covered are advice on fertility and family planning, consideration of the nervous, muscular, ophthalmic, cardio-respiratory, endocrine, dermatological and gastrointestinal systems, as well as guidance on dental care, diet, lifestyle, and improving quality of life and psychological well-being. In summary, this work outlines recommendations and a checklist for clinicians with a vision for improving and standardizing the multidisciplinary care for patients with cystinosis.  Learn More

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

• This study discusses the importance of immediate diagnosis and early treatment of the disease with cystagon, which reduces gastrointestinal complications in such patients. Early diagnosis and treatment with the proper dose of cystagon can increase life expectancy, reduce complications, and improve the patient's quality of life. Learn More

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

• This was an evaluation of prevalence, genetic background and clinical course of NC in a Polish population. The authors concluded to say the prevalence of NC is much lower than in Western countries and its molecular background appears to be different. The unfavourable course in a majority of INC patients was caused by a limited access to the cysteamine treatment.  Learn More

Fertility in Cystinosis.

• The majority of male cystinosis patients are infertile due to azoospermia, in contrast to female patients who are fertile. In this review, the authors provide a state-of-the-art overview on the available clinical, histopathological, animal, and in vitro data. They summarize current insights on both cystinosis males and females, and their clinical implications including the potential effect of cysteamine on fertility. In addition, they identify the remaining challenges and areas for future research.Learn More

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.

• The current treatment for cystinosis is the drug cysteamine, which is onerous and expensive, and only delays the progression of the disease. Employing the mouse model of cystinosis, using Ctns-/- mice, the authors first showed that the transplantation of syngeneic wild-type murine hematopoietic stem and progenitor cells (HSPCs) led to abundant tissue integration of bone marrow-derived cells, a significant decrease in tissue cystine accumulation, and long-term kidney, eye and thyroid preservation. In this review, the authors describe the long path from bench-to-bedside for autologous HSPC gene therapy used to treat cystinosis. Learn More

In Vitro and In Vivo Models to Study Nephropathic Cystinosis.

• This review provides an overview of the in vitro and in vivo models available to study cystinosis, how well they recapitulate the disease phenotype, and their limitations. Learn More