News

Research Grant Progress Report by Justine Bacchetta, MD, PhD, Hospices Civils de Lyon, France

CRF awarded Justine Bacchetta, MD, PhD, and Irma Machuca-Gayet, PhD, their first two-year cystinosis research grant in 2018 for the study of cysteamine toxicity on the bone that became known as the CYSTEABONE project. Additional grants have been awarded every two years since then to continue the research on the pathophysiology of bone disease in […]

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Research Grant Progress Report by Liang Feng, PhD, Associate Professor, Stanford University in California

Researcher Liang Feng, PhD, Associate Professor of Molecular and Cellular Physiology at Stanford University, received a grant award in 2022 for his research “Investigating the Molecular Basis of Protein Dynamics in Cystinosis”.  The goal of his study is to understand the molecular basis of protein dynamics that have important implications in cystinosis. Conformational transitions play

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Research Progress Report by Drs. Francesco Emma and Anna Taranta, Bambino Gesù Children’s Hospital

Researchers Francesco Emma, MD, Head Nephrology Unit, and Anna Taranta, PhD, Senior Research Associate, received grant funding in 2022 for their research on the “Impact of Diet Composition on Renal Function and Bone Disease of Ctns⁻/⁻ Mice.” The aim of their project is to define which dietary components are essential to develop a severe disease

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Final Research Progress Report by Xin Fan, PhD, and Morgan DiLeo, PhD

 Xin Fan, PhD, Investigator and Morgan DiLeo, PhD, Mentor, University of Pittsburgh, Pennsylvania In the fall of 2022, CRF awarded this grant to Dr. DiLeo and her research fellow, Xin Fan, to investigate a sustained-release drug delivery mechanism to improve the treatment of ocular cystinosis, titled “Liposome cysteamine carriers for eye drop formulation with long-term

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Research Progress Report by Olivier Devuyst, MD, PhD, University of Zürich

“Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis.” Objective/Rationale: Cystinosis is a lysosomal storage disease caused by loss-of-function mutations in the CTNS gene coding for the proton-driven transporter cystinosin (CTNS) that exports cystine out of lysosomes. The loss of CTNS results in the lysosomal cystine storage, causing early manifestations of kidney proximal tubule (PT)

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Progress Report by Dr. Laforêt, MD, PhD, Raymond Poincaré University Hospital, Garches, France

Project: Improving characterization of neuromuscular involvement in adults with cystinosis. Beside the consequences of renal failure, the long-term prognosis of cystinosis seems to be related to neuromuscular complications. The main manifestations of neuromuscular involvement have been described in previous studies, emphasizing on hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and

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Join CRF on Rare Disease Day February 29, 2024 and Celebrate 21 Years of Research Progress!

What is a rare disease? Our community might be small in numbers, but our determination to cure cystinosis is unstoppable! We have more work to do, and with your help, we will find better treatments and a cure for cystinosis. Although we are rare, we dare to do the remarkable. Cystinosis affects approximately 2,500 people

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Research Progress Report by Dr. Benjamin S. Freedman, Associate Professor, University of Washington

CRF issued the first grant award to Benjamin ‘Beno’ Freedman, PhD, in 2021 to support his important research on developing a therapeutic strategy for nephropathic cystinosis with iPS cells. The goal of his study is to use human mini-kidneys as surrogates for patients to explore the potential of kidney regeneration, gene therapy, and drug discovery

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Cystinosis Community Statement October 2023 – Novartis Acquires AVROBIO

Dear Cystinosis Community, In May 2023, Novartis acquired the investigational autologous hematopoietic stem cell (HSC) gene therapy program for the treatment of cystinosis from AVROBIO.  We look forward to continuing the development of this program and bringing new hope to patients with cystinosis. We thank you for your patience as we work quickly to transfer

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Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts

“Optimizing Dysphagia Assessments Using MBSImP in Adults with Nephropathic Cystinosis”. Swallowing difficulty is a major concern in patients with nephropathic cystinosis. The results of this research study will help researchers better understand how swallowing is affected in patients with cystinosis and will yield better potential targets for treatment. Drs. Seyedsadjadi and Eichler, expect to better

Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts Read More »