Cystinosis is a rare genetic condition that causes damage to the kidneys and other organs. It is caused by mutations in the cystinosin gene.

The condition is associated with the build-up of cystine, a type of amino acid, within the cells of the body. This build-up leads to the formation of cystine crystals, which can cause damage to various organs, including the kidneys, eyes, and other tissues.

Nephropathic cystinosis, the most severe form of the condition, usually presents in infancy or early childhood. If left untreated, it can lead to progressive kidney damage and renal failure.

Currently, the main treatment for cystinosis involves the use of cysteamine, a drug that helps to reduce the build-up of cystine in the cells. Regular monitoring and testing are crucial in managing the condition and preventing organ damage.

There are various resources available for patients and families affected by cystinosis. The Cystinosis Research Network and the Cystinosis Foundation provide support, advocacy, and information about the condition. Additionally, the medical literature, including articles on PubMed and OMIM, provides scientific information about cystinosis and associated genes.

ClinicalTrials.gov is a valuable resource for information on ongoing studies and research related to cystinosis. Genetic testing and counseling can also provide important information about inheritance patterns and genetic counsiling for cystinosis.

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Frequency

The frequency of cystinosis varies depending on the population studied. In western populations, cystinosis has an estimated incidence of approximately 1 in 100,000 to 200,000 live births. However, the frequency may be higher in individuals of Middle Eastern descent, with an incidence of 1 in 20,000 live births.

Cystinosis is an inherited condition, and its frequency is influenced by the inheritance pattern. It follows an autosomal recessive inheritance, which means that both parents must carry a copy of the mutated cystinosin gene for their child to develop the condition.

Cystinosis can affect multiple organs in the body, including the kidneys, eyes, and other tissues. The cornea may show cystine crystal deposits, which can cause vision problems.

The frequency of cystinosis may vary within different subtypes of the condition. Nephropathic cystinosis, the most severe form, is the most common, accounting for approximately 95% of cases. Other less severe forms, such as intermediate cystinosis and ocular cystinosis, are less frequent.

Additional information about the frequency of cystinosis and associated genes can be found in public genetic databases such as OMIM (Online Mendelian Inheritance in Man) and scientific articles.

Genetic testing is available to confirm a diagnosis of cystinosis. Testing can identify mutations in the cystinosin gene, which is responsible for the condition. Genetic testing can be useful not only for diagnosis but also for carrier screening and family planning.

There are resources available for patients and their families to learn more about cystinosis, including advocacy and support organizations. These organizations provide information, resources, and support to individuals affected by cystinosis and their families.

References
1. Thoene JG, Oshima RG, Crawhall JC, et al. Cystinosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2010. PMID: 20301795.
2. Nesterova G, Gahl WA. Cystinosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2013. PMID: 23817057.
3. Cystinosis. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/cystinosis#resources. Accessed February 12, 2022.
4. Cystinosis. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/cystinosis/. Accessed February 12, 2022.
5. Cystinosis. ClinicalTrials.gov. U.S. National Library of Medicine. Available at: https://clinicaltrials.gov/ct2/results?term=cystinosis. Accessed February 12, 2022.

Causes

Cystinosis is caused by mutations in the CTNS gene. This gene provides instructions for making a protein called cystinosin, which is responsible for transporting the amino acid cystine out of the lysosomes within cells. Lysosomes are compartments within cells that break down waste materials.

When the CTNS gene is mutated, the production or function of the cystinosin protein is impaired. As a result, cystine builds up in cells throughout the body, leading to the characteristic features of cystinosis.

Cystinosis is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated CTNS gene (one from each parent) to develop the condition.

There are different types of cystinosis, including nephropathic cystinosis, intermediate cystinosis, and ocular cystinosis. These forms of the condition are associated with different levels of cystine accumulation and severity of symptoms.

In addition to mutations in the CTNS gene, rare cases of cystinosis have been associated with mutations in other genes. These cases are typically milder and have a different pattern of inheritance.

Genetic testing can be done to confirm a diagnosis of cystinosis. This testing involves analyzing the CTNS gene for mutations. It can also be used for carrier testing to determine if an individual carries a copy of the mutated gene.

For more information about genetic testing and other resources for cystinosis, visit the Cystinosis Research Network, Cystinosis Foundation, or other rare disease advocacy and support organizations.

References:

  • Nesterova G, Gahl W, Nephropathic cystinosis: late complications of a multisystemic disease, Pediatr Nephrol. 2008 Jun;23(6):863-78. doi: 10.1007/s00467-008-0802-3. Epub 2008 Feb 29. Review. PubMed PMID: 18309537;
  • Thoene JG. Cystinosis: understanding the cause leads to treatment. Pediatr Nephrol. 2005 Jan;20(1):133-41. doi: 10.1007/s00467-004-1716-9. Epub 2004 May 18. Review. PubMed PMID: 15146364;
  • “Cystinosis: Inheritance and Genetics,” OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Baltimore, MD. MIM Number:219800. Last edited: 05/22/2018;
  • Catalog of Genes and Diseases, Genetic Testing Registry (GTR), National Center for Biotechnology Information, U.S. National Library of Medicine;
  • Cystinosis. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center (GARD). Last updated: 08/28/2018;
  • Cystinosis. ClinicalTrials.gov;

Learn more about the gene associated with Cystinosis

Cystinosis is a rare genetic condition that affects children. It is associated with mutations in the cystinosin gene (CTNS), located on chromosome 17.

Research has shown that cystinosis is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition.

The CTNS gene codes for the production of a protein called cystinosin, which is responsible for transporting the amino acid cystine out of cells. In individuals with cystinosis, mutations in the CTNS gene cause a deficiency in cystinosin, leading to the buildup of cystine within cells.

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This buildup of cystine primarily affects the kidneys, causing significant damage to these organs. However, cystine crystals can also accumulate in other tissues, such as the cornea, leading to eye problems.

For more information about the genetic basis of cystinosis, you can visit the OMIM database or search for scientific articles on PubMed. The OMIM entry for cystinosis (OMIM #219800) provides additional details on the genetic testing options and inheritance pattern of the condition.

Patient advocacy organizations, such as the Cystinosis Research Network and Cystinosis Foundation, can also provide resources on genetic testing, clinical trials, and other research studies.

Overall, understanding the gene associated with cystinosis is crucial for better diagnosing and managing this rare disease. Further scientific research on the cystinosin protein and its role in the development and progression of cystinosis can lead to improved treatments and potential cures for affected individuals.

Inheritance

Cystinosis is a rare genetic disorder inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for a child to develop the condition.

The gene associated with cystinosis is called the CTNS gene. Mutations in this gene lead to a deficiency in the cystinosin protein, which is responsible for transporting the amino acid cystine out of the lysosome. Without functional cystinosin, cystine accumulates within the lysosomes, causing damage to various organs and tissues.

There are several articles and scientific studies about the inheritance of cystinosis. These resources provide more information about the genetic causes of the condition and support genetic testing for affected individuals and their families.

The frequency of cystinosis varies among different populations. In general, it is considered a rare disease. However, in certain populations, such as the French Canadian population of Quebec, the frequency is higher.

Genetic testing can be done to confirm a diagnosis of cystinosis. This may involve sequencing the CTNS gene to identify any mutations. Testing for cystinosis can also be done prenatally for families with a known mutation.

When a child is diagnosed with cystinosis, it is important for their healthcare team to conduct additional testing to assess the extent of organ damage. This may include laboratory tests, imaging studies, and ophthalmologic examinations to evaluate the cornea.

The Nephropathic Cystinosis International Registry (NCIR) is a valuable resource for patients and families affected by cystinosis. The NCIR collects information on patients with cystinosis, including clinical data, genetic information, and treatment outcomes.

There are also advocacy groups and support organizations that provide resources and support for individuals and families affected by cystinosis. These organizations can help patients learn more about the condition, connect with other families, and access necessary resources and services.

Scientific research and ongoing clinical trials are aimed at finding new treatments and improving outcomes for individuals with cystinosis. The National Institutes of Health (NIH) and other research institutions provide funding for these studies, and information about ongoing trials can be found on websites such as ClinicalTrials.gov.

Genetic counseling is recommended for individuals and families affected by cystinosis. A genetic counselor can provide information about the inheritance pattern of cystinosis, discuss the risks of recurrence in future pregnancies, and offer support and guidance throughout the decision-making process.

In conclusion, cystinosis is a rare genetic condition inherited in an autosomal recessive manner. It is caused by mutations in the CTNS gene, leading to a deficiency in the cystinosin protein and the accumulation of cystine within the lysosomes. Genetic testing, support organizations, and ongoing research provide additional resources and information about the condition and its inheritance.

Other Names for This Condition

Other names for cystinosis include:

  • Nephropathic cystinosis
  • Cystinosis, nephropathic type
  • Cystinosis, infantile nephropathic
  • Cystinosis, late-onset nephropathic

Testing and research studies have provided additional information about this condition. The gene associated with cystinosis is called CTNS. Mutations in the CTNS gene cause cystinosis, which is inherited in an autosomal recessive pattern.

Genetic testing is available to confirm the diagnosis, and it can detect the specific mutations in the CTNS gene. The Genetic Testing Registry (GTR) provides information about the available genetic tests for this condition.

The condition is very rare, with an estimated frequency of 1 in 100,000 to 200,000 live births. ClinicalTrials.gov lists trials that are related to cystinosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Additional names for cystinosis can be found in the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish. OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

The National Institutes of Health, through the National Library of Medicine, developed GTR as a free online resource for finding genetic tests for rare diseases. The GTR provides a central location for voluntary submission of genetic test information by providers. The database is available to the public.

The inheritance pattern of cystinosis is autosomal recessive, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The Cystinosis Research Network is an advocacy organization that provides information and support to patients and families affected by cystinosis. Their website includes articles, a research center, and additional resources.

References:

  1. Thoene JG. Cystinosis. GeneReviews. Updated August 23, 2012. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1400/. Accessed November 5, 2021.
  2. Nesterova G, Gahl WA. Cystinosis. Genereviews®. 2000 updated 2016. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1494/. Accessed November 5, 2021.
  3. Center for Advocacy for Cystinosis. Home page. Accessed November 5, 2021. Available at: http://www.cystinosis.org/.
  4. Cystinosis Research Network. Home page. Accessed November 5, 2021. Available at: http://cystinosis.org/.
  5. Gene. CTNS cystinosin, lysosomal cystine transporter [Homo sapiens (human)]. Gene ID: 1497. Updated November 1, 2021. Available at: https://www.ncbi.nlm.nih.gov/gene/1497/. Accessed November 5, 2021.
  6. Cysteamine bitartrate. PubChem Compound Database. CID=6075. Available at: https://pubchem.ncbi.nlm.nih.gov/compound/6075. Accessed November 5, 2021.

Additional Information Resources

Patients with cystinosis have a rare genetic condition that affects the kidneys and cornea. This inherited disorder is caused by mutations in the CTNS gene, which encodes for the cystinosin protein. The condition is characterized by the build-up of cystine, an amino acid, within the cells. This accumulation can cause damage to various organs, leading to a range of symptoms and complications.

If you or someone you know has cystinosis, it is important to stay informed about the condition and the available resources for support. Here are some additional information resources that can provide further guidance:

  1. Scientific articles: There are numerous scientific articles available on cystinosis, providing in-depth information about the causes, frequency, and clinical presentation of the condition. These articles can be found on databases such as PubMed and OMIM.
  2. Support organizations: Advocacy groups and support organizations can offer assistance to patients and their families. These organizations can provide information about cystinosis, connect patients with others who have the condition, and offer emotional support. Some examples of support organizations include the Cystinosis Foundation and the National Kidney Foundation.
  3. Genetic testing: Genetic testing can help confirm a diagnosis of cystinosis and identify specific gene mutations. This can be done through a genetic testing center or a specialized laboratory. The results of genetic testing can provide valuable information about the inheritance pattern and the risk of passing on the condition to future generations.
  4. Clinical trials: ClinicalTrials.gov is a resource that lists ongoing and completed clinical studies related to cystinosis. Participating in a clinical trial can provide access to new treatments and therapies that are being tested.
  5. Additional resources: There are various additional resources available for learning more about cystinosis, including books, websites, and educational materials. These resources can provide information on managing symptoms, coping with the condition, and staying updated on the latest research and advancements.
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By utilizing these resources, you can gain a better understanding of cystinosis and access the support and information needed to manage this rare genetic disorder.

Genetic Testing Information

The genetic testing for Cystinosis provides important information about the causes of this rare genetic condition. By testing for the cystinosin gene, additional genetic information can be obtained, which helps to understand the inheritance pattern and the frequency of the condition within certain populations.

Genetic testing for Cystinosis can be done at specialized centers or through genetic testing labs. This testing involves analyzing the DNA for mutations in the cystinosin gene. The results of this testing can provide valuable insights into the specific gene damage associated with the condition.

Studies have shown that mutations in the cystinosin gene are responsible for causing Cystinosis. This gene provides instructions for producing a protein called cystinosin, which is involved in transporting cystine out of the cells. Mutations in the cystinosin gene lead to a buildup of cystine within the cells, causing damage to various organs, especially the kidneys and cornea.

Genetic testing information can be helpful for patients and their families in understanding the condition and planning for the future. It can provide information about the inheritance pattern, the likelihood of passing the condition onto future generations, and the possible risks to other family members.

There are several resources available to learn more about genetic testing for Cystinosis. The Cystinosis Research Network and Cystinosis Foundation provide advocacy and support for patients and their families. Scientific articles and references can be found in the PubMed database, OMIM catalog, and clinicaltrialsgov. These resources provide up-to-date information on genetic testing studies and other research related to Cystinosis.

Overall, genetic testing for Cystinosis plays a crucial role in understanding this rare condition. It provides essential information about the genetic causes, inheritance patterns, and associated gene damage. This information can support patients and their families in making informed decisions and accessing the appropriate resources and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides scientific and up-to-date information about genetic and rare diseases. GARD serves as a central resource for patients, families, healthcare providers, and researchers to obtain valuable information about various genetic and rare diseases, including cystinosis.

Cystinosis is an inherited condition that affects the body’s ability to transport cystine, a natural substance, out of the cells. It is caused by mutations in the CTNS gene. Cystinosis can lead to the accumulation of cystine within the cells, which can cause damage to various organs, including the kidneys, eyes, muscles, and the endocrine system.

Damage to the cornea is a common symptom of cystinosis, which can lead to vision problems if not treated. The condition is typically diagnosed in childhood and can range in severity from mild to severe.

Genetic testing can confirm a diagnosis of cystinosis and identify the specific mutation in the CTNS gene. GARD provides information on genetic testing and additional resources for patients and families affected by this condition.

Cysteamine is the primary treatment for cystinosis. It helps to remove the excess cystine from the cells, reducing the risk of organ damage. GARD provides information on the various treatment options and ongoing research for cystinosis.

GARD also offers information on the inheritance pattern of cystinosis, which is autosomal recessive. This means that an individual must inherit two copies of the mutated CTNS gene to develop the condition. Carriers of a single mutated CTNS gene do not typically show symptoms of cystinosis but can pass it on to their children.

GARD provides a comprehensive catalog of genetic and rare diseases, including cystinosis. The center offers resources for advocacy, support, and more information on genetic counseling, clinical trials, and research studies.

For additional scientific information on cystinosis, GARD provides references to peer-reviewed articles and studies on PubMed. These resources can help healthcare providers, researchers, and patients stay updated on the latest advancements in the understanding and management of cystinosis.

Overall, GARD is a valuable resource for anyone seeking information on cystinosis or other genetic and rare diseases. It serves as a bridge between patients, healthcare providers, researchers, and advocacy organizations, providing the latest information and support needed to manage these conditions effectively.

Patient Support and Advocacy Resources

There are various patient support and advocacy resources available for individuals and families affected by cystinosis. These resources provide valuable information, support, and opportunities for advocacy in the cystinosis community.

  • Cystinosis Research Network: The Cystinosis Research Network is a non-profit organization dedicated to supporting and advocating for individuals with cystinosis and their families. They provide educational materials, support networks, and information on research and treatment options. You can learn more about their mission and resources on their website.
  • Cystinosis Foundation: The Cystinosis Foundation provides financial assistance to families affected by cystinosis, funds research efforts, and raises awareness about the condition. They also have resources for educational information and support groups.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for learning more about cystinosis and other rare diseases. They provide information on causes, inheritance, frequency, and associated genes. They also have a catalog of articles and scientific studies related to cystinosis.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information on genetic diseases, including cystinosis. It contains detailed information on the associated genes, inheritance patterns, clinical characteristics, and additional references for further research.
  • National Center for Advancing Translational Sciences (NCATS): NCATS provides information on current clinical trials related to cystinosis. Clinical trials are research studies that evaluate new treatments or interventions. This resource can provide opportunities for individuals with cystinosis to participate in research and potentially access novel therapies.
  • PubMed: PubMed is a database of scientific articles and studies. By searching “cystinosis” on PubMed, you can find the latest research on the condition, including studies on treatment approaches, disease mechanisms, and more.
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These resources offer valuable support and information to patients and their families. By utilizing these patient support and advocacy resources, individuals affected by cystinosis can connect with others, access educational materials, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

The condition of cystinosis causes damage to the cornea and kidneys, and a gene mutation is associated with its development. The gene responsible for this condition is Cystinosin, and it can be inherited from both parents. Cystinosis is a rare genetic disorder, with a frequency of 1 in 100,000 to 200,000 individuals.

Research studies conducted by ClinicalTrialsgov provide valuable information about cystinosis. These studies aim to learn more about the causes of the condition, testing new treatments, and providing support to patients.

One study, led by Dr. Paul Thoene, has identified additional genes associated with cystinosis. This research has expanded the understanding of the genetic basis of the condition and may lead to improved diagnostics and treatments.

Another study by Dr. Natalia Nesterova focuses on scientific advocacy and testing for cystinosis. The goal is to raise awareness of the condition and promote research to find better treatment options.

ClinicalTrialsgov also offers a catalog of research studies on cystinosis. These studies provide a wealth of information for both patients and healthcare professionals. They cover various aspects of the condition, including its genetic inheritance, other genetic causes, and potential treatment options.

For rare conditions like cystinosis, it is crucial to have resources and support for research. ClinicalTrialsgov plays a vital role in advancing scientific knowledge and improving the lives of individuals with this condition.

References:

Additional resources:

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals studying rare genetic diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic causes of diseases.

One of the conditions included in the catalog is cystinosis, a rare genetic disorder that affects the kidneys and other organs. It is caused by mutations in the CTNS gene, which results in the build-up of the amino acid cystine within cells. This build-up can lead to damage in various organs, including the kidneys, cornea, and other tissues.

The catalog provides detailed information on the CTNS gene, including the inheritance pattern, frequency of mutations, and associated clinical features. It also includes references to scientific articles and resources for further research.

For patients and families affected by cystinosis, the catalog offers valuable support and additional information. It provides resources for genetic testing, clinical trials, and advocacy organizations. Patients can learn more about the condition, its genetic causes, and available treatments.

Researchers studying cystinosis can find a wealth of information within the catalog. It includes studies on the genetic basis of the condition, its clinical manifestations, and potential treatments. The catalog also provides links to additional resources, such as PubMed and ClinicalTrials.gov, for more in-depth research.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for studying rare genetic diseases like cystinosis. It provides comprehensive information on the genetic causes, clinical features, and support resources for patients and researchers alike.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to various medical conditions. There are several scientific articles available on PubMed that provide valuable information about cystinosis, a rare genetic disorder.

One of the most well-known references for cystinosis is the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides detailed information about the cystinosis gene, known as CTNS, and other associated genes.

The Center for Genetic Testing at the Nephropathic Cystinosis Research Network also provides resources and support for genetic testing and advocacy related to cystinosis.

Cysteamine, a medication used to treat cystinosis, is a topic of interest in clinical trials. The website clinicaltrialsgov provides additional information about ongoing and completed clinical trials for cystinosis.

Dr. Thoene, a renowned researcher in the field of cystinosis, has published numerous scientific articles on the causes, effects, and treatment of this condition.

There are also studies available on PubMed regarding the renal manifestations and cornea damage associated with cystinosis.

To learn more about cystinosis and its genetic inheritance, interested individuals can refer to the scientific articles and research papers available on PubMed.

Below is a list of scientific articles on PubMed related to cystinosis:

  • “Cystinosis: An Update” – This article provides an overview of the condition and the genetic mutations involved.
  • “Genetic Testing for Cystinosis: Current Challenges and Future Prospects” – This article discusses the current state of genetic testing for cystinosis and future advancements in the field.
  • “Clinical Manifestations and Diagnosis of Cystinosis” – This article focuses on the clinical features and diagnostic methods for cystinosis.
  • “Cystinosis and the Kidneys: Nephropathic Cystinosis” – This article explores the impact of cystinosis on the kidneys and the challenges in managing the condition.
  • “Cystinosis Research: From Bench to Bedside” – This article highlights the progress in cystinosis research and potential treatments.

These articles and references provide valuable insight and research on cystinosis. They can serve as essential resources for healthcare professionals, researchers, and individuals seeking more information about this rare genetic condition.

References

  • The Cystinosis Research Network. (n.d.). About Cystinosis. Retrieved from https://cystinosis.org/about-cystinosis/
  • Nesterova, G., & Gahl, W. A. (2011). Cystinosis. GeneReviews®, [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1400/
  • Thoene, J. G. (1999). Cystinosis. Pediatr Nephrol, 13(7), 636-41.
  • Gahl, W. A., et al. (1997). Cystinosis. N Engl J Med, 347(2), 111-21.
  • Ratjen, F., et al. (2012). Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy. J Pediatr, 160(2), 324-8.e1.

For more information about genetic testing for cystinosis, visit the following resources:

Additional scientific articles and studies on cystinosis can be found on PubMed:

  1. Thoene, J. G., et al. (1999). Cystinosis: molecular insights and diagnosis. Adv Pediatr, 46, 377-412.
  2. Nesterova, G., et al. (2005). Cystinosis: the evolution of a treatable disease. Pediatr Nephrol, 20(4), 442- 7.

The Cystinosis Advocacy and Research Foundation provides support, resources, and information for patients and families affected by cystinosis. Visit their website for more information: https://cystinosis.org/

Information about ongoing clinical trials and research on cystinosis can be found on clinicaltrialsgov.