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Discover genetic diagnosis for inherited retinal dystrophies

3 August 2021

Genetic testing for IRDs improves understanding for patients.

Previously, genetic testing was not a regular request as part of a patient’s diagnostic work-up. This was due to a lack of understanding of the disease mechanisms, and also, the importance of knowing the genetic cause.1-4

When an IRD is suspected, it is more important than ever to refer patients for genetic testing.1-4 Identifying the genetic cause can offer so much information which can have a positive impact on a patient’s future.1-4 Two-thirds of adults and 85% of children referred for a genetic test receive a conclusive diagnosis, and the more causative mutations identified, the more we can help as-yet undiagnosed IRD patients.1,5

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Better disease management

Genetic testing can provide information on disease severity and progression, as well as allow distinction between two very similar types of IRDs.1-4 As there is overlap between signs and symptoms, identifying the causative gene can refine the diagnosis to allow for better disease management, particularly in terms of progression and the future involvement of other systems such as hearing.2,3,6

A genetic test can also determine a patient’s eligibility for clinical trials.3 Clinical trials are essential for advancing our understanding of the many IRD types, and aid in the development of potential therapeutic treatments.2,4,6

The earlier a patient reaches a conclusive diagnosis, the better. In fact, some clinical trials may have a window of opportunity that could be affected by delayed or late diagnosis, as well as some potential therapeutic options.7,8 But more importantly, an early and conclusive diagnosis can have a positive impact on patients and their families.5


Hope for the future

An understanding of IRDs and the ability to identify the disease could give patients time to prepare for the future and maintain their quality of life.4,6,8,9


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To learn more about referring a patient any point of their clinical and genetic diagnosis, read the article “Discover your role in an IRD diagnosis”, and to discover what’s possible with genetic testing for IRDs, visit DiscoverIRD.com.


1. Duncan JL, et al. TranslVis Sci Technol 2018; 7(4): 6. 2. Kumeran N, et al. Br J Ophthalmol. 2017; 101: 1147–1154. 3. American Academy of Ophthalmology Clinical recommendations. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients. Last accessed 4th June 2021. 4. Cremers FPM, et al. Genes. 2018; 9(4):215. 5. Willis TA, et al. Br J Ophthalmol. 2013;97:1148-1154. 6. Henderson R. PaedChild Care 2020; 30: 19–27. 7. Trapani, I and Auricchio, A. Trends Mol Med. 2018; 24(8):669-681. 8. Lenassi E, et al. Genet Med. 2020; 22(4): 745-751. 9. Lorenz B, et al. Ophthalmic Res. 2021; DOI: 10.1159/000515688.

Novartis Pharma AG, CH-4002 Basel, Switzerland. ©2021 Novartis Pharma AG – June 2021. GLOPH/LUX/129927.


Posted 3 August 2021
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3 August 2021

Could visual impairment be an IRD?

Inherited retinal dystrophies (IRDs) are a diverse group of degenerative inherited diseases that often result in loss of vision and eventual blindness.1 An IRD can present at any time from birth to late middle age.2
To put this into perspective, globally, the number of people with an IRD5,* is more than the number of women who currently have breast cancer6, or the number existing childhood diabetes cases.7 This means that it is likely that ophthalmologists and other health care practitioners will come across a few cases per year. Identifying the disease as early as possible allows for better disease management and can mitigate disruption to childhood development.4
Types of IRDs and common symptoms
There are various forms of IRDs (Figure 1) which can exhibit the same common symptoms (Figure 2).1,8 The most common IRD is Retinitis Pigmentosa (RP) which can have both early or late onset phenotypes9,10, but there are some others, such as Usher Syndrome, that can affect other organs but still display similar visual disturbances to RP.9,10
Act with urgency
Referring a suspected IRD patient to a specialist as soon as possible enables early and accurate diagnosis. Acting quickly can have a positive impact on a patient’s future.4,8,11
To learn more about diagnosing an IRD, read the article “Discovering an IRD diagnosis”, and to learn more about the different types of IRDs and to equip yourself with more knowledge to identify IRD patients, visit DiscoverIRD.com.
*Autosomal recessive IRD. 1. Duncan JL, et al. Transl Vis Sci Technol. 2018; 7(4): 6. 2. Henderson R. Paed Child Care. 2020; 30: 19–27. 3. Cremers FPM, et al. Genes. 2018; 9(4):215. 4. Kumeran N, et al. Br J Ophthalmol. 2017; 101: 1147–1154. 5. Hanany M, et al. PNAS. 2020; 117(5): 2710-2716. 6. Cancer Atlas. https://canceratlas.cancer.org/the-burden/the-burden-of-cancer/. Last accessed 1st March 2021. 7. Patterson CC, et al. Diabetes Res Clin Pract. 2019; 157: 107842. 8. Lee K, Garg S. Genet Med. 2015; 17(4): 245-252. 9. Sahel JA. Cold Spring Harb Perspect Biol. 2015; 5(2) a017111. 10. Nash BM, et al. Transl Pediatr. 2015; 4(2): 139-163. 11. Menghini M, et al. Expert Opin Orphan Drugs. 2020; 8(2-3):67-68.
Novartis Pharma AG, CH-4002 Basel, Switzerland. ©2021 Novartis Pharma AG – June 2021. GLOPH/LUX/129925.
3 August 2021

Discovering an inherited retinal dystrophy diagnosis

Diagnosis of an inherited retinal dystrophy (IRD) can be made earlier and with greater accuracy.1,2
Diagnosing an IRD can be a challenge. This is clear by the frequency of misdiagnoses and the length of time many patients wait for a conclusive diagnosis, from several months to 10 years.3,4 Delayed diagnosis or misdiagnosis can often occur due to the fact that there is not just one sign and symptom of an IRD.5 Coupled with this is the fact that there are multiple types of IRDs with overlapping symptoms!5,6
Clinical diagnosis plus a genetic diagnosis
Besides the symptoms a patient may exhibit, there are several clinical signs that can confirm an IRD clinical diagnosis.6
Tests to clinically diagnose and IRD include:6
These tests can provide important information on photoreceptor response and function, type of IRD and the level of disease progression.6
Bring clarity to an IRD diagnosis
While a clinical diagnosis can help spot an IRD early based on symptoms a patient exhibits, a genetic diagnosis is necessary to complete the clinical diagnosis.5 A genetic test informs on the genetic cause of an IRD.5,6 This can lead to clarity of the type of IRD, better disease management including progression and disease severity, as well as identify patients eligible for clinical trials.5,6
To learn more about the importance of a genetic diagnosis for IRDs, read the article “Discover genetic diagnosis for inherited retinal dystrophies”. To equip yourself with more knowledge about the signs/symptoms and clinical tests to identify your IRD patients, visit DiscoverIRD.com.
1. Cremers FPM, et al. Genes. 2018; 9(4):215. 2. Kumeran N, et al. Br J Ophthalmol. 2017; 101: 1147–1154. 3. Lorenz B, et al. Ophthalmic Res. 2021; DOI: 10.1159/000515688. 4. American Academy of Ophthalmology. EyeNetMagazine. May 2018. https://www.aao.org/eyenet/article/inherited-retinal-diseases . Last accessed 3rd June 2021. 5. American Academy of Ophthalmology Clinical recommendations. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients. Last accessed 4th June 2021. 6. Henderson, R. PaedChild Care. 2020; 30: 19-27.
Novartis Pharma AG, CH-4002 Basel, Switzerland. ©2021 Novartis Pharma AG – June 2021. GLOPH/LUX/129926.
3 August 2021

Discover your role in an inherited retinal dystrophy diagnosis

Taking action.
Early diagnosis, including a genetic diagnosis is crucial not only for providing a conclusive and complete diagnosis for IRD patients, but because it can give them clearer options for the future.1-4 Each stage in a patient’s journey to a complete diagnosis is important; starting from that first initial suspicion of an IRD and referral to a specialist to the referral for a genetic test.1-4
Figure 1 summarises the steps in the diagnostic journey of a patient and how to decide if a patient is eligible for a genetic diagnosis, which can lead to better disease management, opportunities including clinical trials, as well as better preparation for the future.1-4 One important thing that we can see is that it is a team effort!
Figure 1: Differential diagnosis of inherited retinal dystrophies. Click on the image to enlarge.
Adapted from: Kellner U, et al. Klinische Monatsblätter für Augenheilkunde. 2020; 237: 275-287.
To discover what’s possible for patients with an IRD, visit DiscoverIRD.com.
1. Duncan JL, et al. TranslVis Sci Technol 2018; 7(4): 6. 2. Kumeran N, et al. Br J Ophthalmol. 2017; 101: 1147–1154. 3. American Academy of Ophthalmology Clinical recommendations. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients. Last accessed 4th June 2021. 4. Cremers FPM, et al. Genes. 2018; 9(4):215. 5. Kellner U, et al. Klinische Monatsblätter für Augenheilkunde. 2020; 237: 275-287.
Novartis Pharma AG, CH-4002 Basel, Switzerland. ©2021 Novartis Pharma AG – June 2021. GLOPH/LUX/129930.
1 October 2020

Download Poster: Overall Survival with Kisqali® plus Endocrine Therapy in Patients with Advanced Breast Cancer with Visceral Metastases 6

Kisqali® is the only CDK4/6 inhibitor proven to help pre-, peri- and postmenopausal women with HR+/HER2– a/mBC live longer.1–5
OS and PFS benefit in patients with visceral metastases receiving Kisqali® plus endocrine therapy versus Placebo in both MONALEESA-3 and the MONALEESA-7 NSAI cohort.6
Figures adapted from Yardley DA et al.6
a/mBC: advanced/metastatic breast cancer; CDK: Cyclin-dependent kinase; CI: confidence interval; ET: endocrine therapy;
HER2–: human epidermal growth factor-receptor 2 negative; HR: hazard ratio; HR+: hormone receptor positive;
NSAI: nonsteroidal aromatase inhibitor; OS: overall surivival;
PFS: progression-free survival; PBO: placebo; RIB: Ribociclib
References:
1. KISQALI® Summary of Product Characteristics. Updated February 2020. www.swissmedicinfo.ch
2. Im SA et al. Overall Survival with Ribociclib plus Endocrine Therapy in Breast Cancer. N Engl J Med 2019;381(4):307–316.
3. Slamon DJ et al. Overall Survival with Ribociclib plus Fulvestrant in Advanced Breast Cancer. N Engl J Med 2019;382(6):514–524.
4. Turner NC et al. Overall survival with palbociclib and fulvestrant in advanced breast cancer. N Engl J Med 2018;379(20):1926–1936.
5. Sledge GW Jr et al. The Effect of Abemaciclib Plus Fulvestrant on Overall Survival in Hormone Receptor-Positive, ERBB2-Negative Breast Cancer That Progressed on Endocrine Therapy-MONARCH 2: A Randomized Clinical Trial. JAMA Oncol 2020;6(1):116-124.
6. Yardley DA et al. Ribociclib + endocrine therapy in patients with hormone receptor-positive, HER2-negative advanced breast cancer presenting with visceral metastases: subgroup analysis of phase III MONALEESA trials. Poster presented at: 41st San Antonio Breast Cancer Symposium; December 4–8, 2018; San Antonio, TX. Poster P6-18-07
KISQALI® Summary of Product Characteristics. www.swissmedicinfo.ch
(NO53703 07.2020)
4 August 2020

Webinar: Neueste Daten beim metastasierten Mammakarzinom – was ändert sich im klinischen Alltag?

Am ASCO 2020 wurden interessante Daten zum fortgeschrittenen Mammakarzinom vorgestellt. Die wichtigsten Highlights und aktuelle Studien werden von einer hochkarätigen Expertenrunde (Prof. Dr. Christian Kurzeder, Dr. Urs Breitenstein und PD Dr. Marcus Vetter) in einem virtuellen Setting präsentiert und mit Ihnen jeweils im Anschluss im Expertengremium diskutiert.
Dienstag, 11. August 2020
18:00 – 19:15 Uhr
Agenda:
18:00 – 18:15 Uhr Advanced HER2+ / Dr. Urs Breitenstein
18:15 – 18:40 Uhr Advanced ER+ / PD Dr. Marcus Vetter
18:40 – 19:00 Uhr Advanced TNBC / Prof. Dr. Christian Kurzeder
19:00 – 19:15 Uhr Q&A / Diskussion