Top 5 Rare Disease News of the Week—September 23, 2018

SEPTEMBER 29, 2018
Rare Disease Report® Editorial Staff

#5: Hartmann Wellhoefer, MD, on Challenges Faced & Advances Made in Fight Against MPS

In a recent interview with Rare Disease Report®, Hartmann Wellhoefer, MD, vice president of medical affairs, Rare Diseases and Internal Medicine, at Shire, discussed the biggest challenges faced and advances being made in the fight against mucopolysaccharidosis (MPS), a group of rare, hereditary, and incurable conditions for which only a handful of treatments are available.

Dr. Wellhoefer also highlights key takeaways from the 15th International Symposium on MPS and Related Diseases (ISMPS) which was held from August 2-4, 2018 in San Diego, California. Through the symposium, the MPS community was provided with an opportunity to learn more about the latest research being conducted in the field as well as share personal experiences to boost awareness and improve patient care.

Rare Disease Report ®:  You recently attended the 2018 International Symposium on Mucopolysaccharidosis (MPS) and Related Diseases. Can you tell me about this conference?

Dr. Wellhoefer:  The ISMPS is one of the most unique congresses I’ve ever attended because of the presence of patient advocacy groups, patients, their families, and caregivers, as well as physicians and industry representatives. You actually hear children chatting and laughing in the hallways of the Congress, and more importantly, in the scientific sessions. It is these sounds that remind you it is all about the patient. This mix gives the event a very different atmosphere—almost a lightness, despite the fact that we’re talking about very serious and often life-threatening diseases.

At this Congress, there is also a tangible sense of hunger for new information. You walk the hallways and you see a global medical expert speaking with a patient and/or caregiver, having earnest conversations about MPS and sharing their perspectives.

The experience of attending and participating in this conference reinforces some of the major challenges of working in rare diseases, like MPS. Each of the MPS diseases—7 in total—are all very different in terms of the onset and type of symptoms. At ISMPS, because of the patient presence, you are able to see the individuality in each patient—or, to put it in medical terminology—the different phenotypes within each of the MPS diseases. This high level of variability within the same disease is the very challenge we have across almost all of the 7,000 or so rare diseases, some of which have treatments, most of which do not. This reminds us that there is much work to be done and that we have our work cut out for us—as an industry, and as a leader in rare diseases.

Read the full interview with Hartmann Wellhoefer, MD, on challenges faced and advances made in the fight against MPS.

#4: Children with Acute Lymphoblastic Leukemia May Be Immunologically Disparate at Birth

Investigators in Denmark have found new evidence suggesting that children who develop acute lymphoblastic leukemia may be predisposed from birth, and their immune responses to early childhood infections may offer clues to how the disease develops.

Childhood acute lymphloblastic leukemia (ALL) is a cancer of the blood and bone marrow originating in the T and B lymphoblasts in the bone marrow. In children with ALL, the bone marrow makes too many immature lymphocytes, and the immune system weakens. With a decrease in healthy red blood cells, white blood cells, and platelets, children can experience infections and anemia and may bleed easily. According to the National Cancer Institute, rates of childhood ALL have been on the rise along with other childhood cancers since 1975. It is the most commonly diagnosed cancer in children, making up about 25% of all cancer diagnoses in children under the age of 15 years.

With remission rates of about 98% and a 90% survival rate at 5 years, children with ALL today benefit from advances in treatment. Many symtpoms of ALL are similar to other conditions and can include aches in the arms and legs, unexplained bruising, enlarged lymph nodes, unexplained fever, tiredness, unexplained weight loss, and prolonged bleeding from minor injuries. Risk factors for children developing ALL include prenatal exposure to x-rays, post-natal exposure to high levels of radiation, chemotherapy treatment, inherited genetic variants, and genetic conditions including Down syndrome.

In a new study published in the journal Cancer Research, a research team led by scientists at the Statens Serum Institut in Copenhagen, Denmark, explored the hypothesis that children with ALL are born with a dysregulated immune function that together with postnatal environmental exposures causes the development of the disease in childhood. Previous studies had indicated that children could develop ALL due to an overreaction to childhood infections.

Read more about how children with acute lymphoblastic leukemia may be immunologically disparate at birth.  

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