Author: Helena Mello

Challenges in Hemoglobinopathies Projects and the Support of KOL Match

There are over 7,000 rare diseases described, affecting about 20-30 million people in the U.S. alone, according to the NIH. While each condition has its specificities, there are common challenges in the rare disease space, such as finding patients and leveraging centers of excellence and referral networks. This article discusses such challenges and how partnering with SAI’s subject matter experts can help overcome them.

Hemoglobinopathies are a family of rare diseases characterized by a defect in hemoglobin, the protein inside red blood cells that carries and delivers oxygen throughout the body. Although it is difficult to precisely determine the number of individuals affected by hemoglobinopathies, it is estimated that between 300,000 and 400,000 newborns every year have hemoglobin disorders.

While transient treatments have been the standard of care for most hemoglobinopathies, recently, gene therapy has strongly emerged as a potential curative treatment. In August 2022, the gene therapy beti-cel (Zynteglo, bluebird bio) has been approved by the FDA to treat adult and pediatric patients with transfusion-dependent beta-thalassemia. In addition, gene editing approaches (e.g., CRISPR/Cas) are invading the hematological space and can change the paradigm of disease therapeutics.

Despite the common defining characteristic of hemoglobinopathies, each condition has a unique underlying cause (i.e., specific genetic alterations). Thus, each condition affects unique populations and is supported by specialized healthcare professionals. Such differences, as well as the treatment methodology (curative vs. transient), determine the choice of specialists and patient population involved in a clinical study.

Our rare disease experts thoroughly understand the geographic distribution of hemoglobinopathies and the challenges associated with finding specialized centers and experts worldwide. At SAI, we utilize a curated list of top KOLs to find the best specialists driving innovation and treatment paradigms in hemoglobinopathies and other rare diseases.

KOL Match Rare Disease is SAI MedPartners’ subscription-based tool, which blends our extensive network of KOLs to our long-standing commitment to advancing rare disease research and development. This vetted KOL database supports our clients’ initiatives such as advisory board construction and clinical trial site selection, and it informs KOL interactions and engagement strategy.​

The unique challenges in the hemoglobinopathies space require rigorous, expert work such as our rare disease experts do every day, with the support of unique tools such as our KOL Match database. Whether you want to discuss our strategic consulting capabilities in the rare disease space or explore the breadth of KOL Match, please contact us today.

 

Sources:

Kavanagh PL, Fasipe TA, Wun T. Sickle Cell Disease: A Review. JAMA. 2022 Jul 5;328(1):57-68. doi: 10.1001/jama.2022.10233. PMID: 35788790.

Gil Bellis, Alain Parant. Beta-thalassemia in Mediterranean countries. Findings and outlook. Investigaciones Geográficas, Instituto Universitario de Geografía. Universidad de Alicante (Spain), 2021, pp.1-10. ff10.14198/INGEO.19079ff. ffhal-03447028f

Grace RF, Barcellini W. Management of pyruvate kinase deficiency in children and adults. Blood. 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739.

https://rarediseases.info.nih.gov/

Conference coverage with SAI: from intelligence to insight, from insight into actionable business decisions

Medical conference coverage requires both knowledge of the therapeutic area and the ability to synthesize key points from several individual sessions into nuanced, meaningful intelligence. At SAI, we compile the pertinent data presented at the conference, provide key takeaways from relevant presentations, and include meaningful summaries coupled with insights from KOLs and prominent experts in the field.

SAI’s therapy area experts highlight the most valuable content specific to our client’s area of interest, including updates on the current and future landscape of specific disease areas. SAI bridges the gap from intelligence to insight and insights into actionable business decisions.

Here are 10 medical conferences routinely covered by SAI which are happening this fall:

At a glance:

  1. ESMO (European Society of Medical Oncology)
    When: September 9-13, 2022
    Where: Paris, France
    Highlights: advances in antibody-drug conjugates in metastatic breast cancer, targeted treatments in colorectal carcinoma, early cancer management, cell therapies for solid tumors.
  1. EASD (European Association for the Study of Diabetes)
    When: September 19-23, 2022
    Where: Stockholm, Sweden
    Highlights: challenges and best practices in type 2 diabetes treatment, effects of SGLT2 inhibitors on the kidney, cardiovascular system, and diabetes management.
  1. ASDS (American Society for Dermatologic Surgery)
    When: October 6-10, 2022
    Where: Denver, CO
    Highlights: safe and effective combination treatments, skin cancer, regenerative medicine.
  1. ESGCT (European Society of Gene & Cell Therapy)
    When: October 11-14, 2022
    Where: Edinburgh, Scotland
    Highlights: advances in safety and effectiveness of gene delivery vectors, manufacturing and scalability challenges of gene and cell therapy products.
  1. ID Week (Infectious Disease Week)
    When: October 19-23, 2022
    Where: Washington, DC
    Highlights: Clostridium difficile bacterial infection, challenges in treating HIV patients with limited options, pediatric COVID-19 vaccines, pipeline of new antimicrobials.
  1. Congress of Clinical Rheumatology
    When: October 20-23, 2022
    Where: San Diego, CA
    Highlights: new options for treatment of systemic lupus erythematosus, the roles of IL-6 and interferons in rheumatoid arthritis, regulatory pathways in pain management.
  1. AASLD (American Association for the Study of Liver Diseases) The Liver Meeting
    When: November 4-8, 2022
    Where: Washington, DC
    Highlights: latest research on various liver disease states, patient perspectives, new developments in the space.
  1. AHA (American Heart Association) Scientific Sessions 2022
    When: November 5-7, 2022
    Where: Chicago, IL
    Highlights: focus on “improving cardiovascular health” through global education, advocating scientific discoveries, and guiding clinical practice.
    Bonus: the special focus AHA Hypertension Scientific Session takes place September 7-10, 2022, in San Diego, CA.
  1. ACAAI (American College of Allergy, Asthma & Immunology)
    When: November 10-14, 2022
    Where: Louisville, KY
    Highlights: non-Th2 asthma management, new approvals in biologics treatments, immunodeficiency beyond immunoglobulin replacement.
    Bonus: the Food Allergy Symposium will be happening parallel to ACAAI meeting.
  1. ASH (American Society of Hematology) Annual Meeting
    When: December 10-13, 2022
    Where: New Orleans, LA
    Highlights: latest scientific developments, late-breaking drug approvals, precision medicine in the hematology space.

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