Raising Awareness for Rare Diseases

This month we want to raise awareness for rare diseases. A rare disease is any condition that affects a small percentage (roughly 4.6%) of the population. Most rare diseases are genetic while others come from viral or bacterial infections. 70% of rare genetic disorders start in childhood.


The biggest challenge with rare diseases today is the lack of information and knowledge in treating and getting a correct diagnosis. Rare diseases are so uncommon that researchers and clinicians must stay connected when conducting international research. Multinational clinical trials can also help patients with research advancements.


Here are some facts on rare diseases:

  • 1:10 people suffer from a rare disease.
  • 50% affected are children.
  • There are approximately 7,000 rare diseases.
  • One of the most uncommon conditions is called: fibrodysplasia ossificans progressiva – this condition causes bones to form where they are not supposed to 80% of rare diseases are inherited.
Source: WHO, NORD  

FDA Approves New Drug for Diffuse
Large B-Cell Lymphoma

FDA Approves New Drug for Diffuse Large B-Cell Lymphoma

A novel drug, tafasitamab-cxix (Monjuvi, MorphoSys US Inc), has been approved by the US Food and Drug Administration (FDA) for the treatment of adult patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL).

The product is a humanized Fc-modified cytolytic CD19 targeting monoclonal antibody. It mediates B-cell lysis through apoptosis and immune effector mechanism, including antibody-dependent cell-mediated cytotoxicity (ADCC) and antibody-dependent cellular phagocytosis (ADCP).

It is indicated for use in combination with lenalidomide for adult patients with relapsed/refractory DLBCL that is not otherwise specified, including DLBCL arising from low grade lymphoma, and in patients who are not eligible for autologous stem cell transplant (ASCT).

Tafasitamab-cxix in combination with lenalidomide is the first treatment that approved by the FDA for second-line use for patients with relapsed or refractory DLBCL, notes the manufacturer.

The approval “brings a new treatment option to patients in dire need across the United States,” said Gilles Salles, MD, chair of the clinical hematology department at the University of Lyon, France, and lead investigator of the L-MIND study.

The FDA granted an accelerated approval on the basis of overall response rate (ORR) from an open-label single-arm phase 2 trial in 81 patients (known as L-MIND). Further trials are underway to confirm clinical benefit.

The L-MIND trial was conducted in patients with relapsed or refractory DLBCL who had received at least one, but no more than three, prior lines of therapy, including an anti-CD20 targeting therapy (eg, rituximab), who were not eligible for high-dose chemotherapy or who refused subsequent ASCT.

All patients received tafasitamab-cxix 12 mg/kg intravenously with lenalidomide (25 mg orally on days 1 to 21 of each 28-day cycle) for a maximum of 12 cycles, followed by tafasitamab-cxix as monotherapy.

The best ORR (defined as complete and partial responders) in 71 patients with a diagnosis of DLBCL confirmed by central pathology was 55%, with complete responses in 37% and partial responses in 18% of patients. The median response duration was 21.7 months (range: 0, 24).

The most common adverse reactions (≥20%) were neutropenia, fatigue, anemia, diarrhea, thrombocytopenia, cough, fever, peripheral edema, respiratory tract infection, and decreased appetite.

Precautions and warnings include infusion-related reactions (6%), serious or severe myelosuppression (including neutropenia [50%], thrombocytopenia [18%], and anemia [7%]), infections (73%), and embryo-fetal toxicity.

DLBCL is the most common type of non-Hodgkin lymphoma in adults worldwide, characterized by rapidly growing masses of malignant B-cells in the lymph nodes, spleen, liver, bone marrow or other organs. It is an aggressive disease with about 1 in 3 patients not responding to initial therapy or relapsing thereafter, notes the manufacturer. In the US each year approximately 10,000 patients who are not eligible for ASCT are diagnosed with relapsed or refractory DLBCL.


Source: medspace


Apert’s Syndrome: Why Kids Of Older Dads Are More Likely To Have Some Genetic Disorders

Apert's Syndrome: Why Kids Of Older Dads Are More Likely To Have Some Genetic Disorders

In a cruel irony, testis cells carrying the mutation that causes Apert’s syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

The research, to be published in the Proceedings of the National Academy of Sciences Online Early Edition during the week of July 14-18, can explain why the syndrome is unexpectedly common, and why sperm from older men carry the mutation more frequently than expected.

The likelihood that a child from an older father inherits this and similar genetic diseases is approximately 10- to 20-fold greater than that of a younger father, yet the molecular reasons behind it have been elusive, said USC biologist Norman Arnheim, who co-led the study with USC’s Peter Calabrese.

Calabrese, Arnheim and two other USC colleagues found the strongest evidence yet that testis cells carrying the mutant gene causing Apert’s syndrome have a survival advantage over non-mutant cells. This means that as a man ages, the number of mutant cells rises exponentially, as does the sperm descended from them.

Because so much DNA is constantly being copied, small errors often occur. Apert’s syndrome is caused by one of two simple switches on a gene located in a man’s sperm.

But geneticists have puzzled over why Apert’s syndrome occurs 100 to 1000 times more often than would be expected from random, spontaneous copy errors.

Thanks to a method developed by Arnheim’s lab that divides the testis into about 200 units, the scientists observed that cells with mutated DNA are clustered in specific areas, rather than distributed evenly, as would be expected if the copy errors simply occurred more frequently.

While the researchers have seen this before, this study is the first to test both Apert’s syndrome mutations in testes from both young and old individuals in this way.

Comparing computer models with observed data, the scientists were able to demonstrate that the high frequency of the disease is not due to an increased chance of a mistake being made when the gene is copied, as has been widely proposed in the past.

Instead, the concentrated areas observed in the testes could be explained by a selective advantage of the mutant cells over non-mutant ones, meaning that mutant lineages would grow in number over time, thus increasing the chances that more sperm will contain mutant genetic material.

This seems counter-intuitive, since when we think of natural selection, we often think of beneficial traits, like a mutant butterfly with camouflaged wings, which escapes predators and passes this advantageous color to its offspring.

But in the case of Apert’s syndrome, the gene switches end up making the mutant testis cell fitter, while this is not the case in the humans who develop from the resulting sperm.

“It just seems so odd that the testis that causes such a harmful disease for the kid apparently has an advantage over cells without the mutation,” Calabrese said. While theories have been suggested, it’s not yet known what this advantage is for sure, he added.

This evolutionary explanation, which has been proposed but rarely tested, may hold true for other genetic disorders such as achondroplasia, the most common form of dwarfism, as that condition is also linked to a single gene substitution.

“I think it raises the possibility that there might be a larger class of genetic diseases that are the result of a selective advantage when the mutation occurs,” Arnheim said.

If scientists are able to pin down the molecular mechanism that enables this advantage, there could in theory be ways to counteract it, although such thinking is highly speculative, he added.

The study is also of interest since some mutations in the same genes involved in Apert’s syndrome and achondroplasia (FGFR2 and FGFR3) appear to be involved in some types of cancer. While little is known about the mechanisms behind those mutations, such information might eventually help explain the molecular basis for the advantage in the testis.

The paper’s other authors were Soo-Kyung Choi and Song-Ro Yoon. The research was funded in part by grants from the National Institute of General Medical Sciences and the Ellison Medical Research Foundation.

Source: ScienceDaily


Dysarthria in MG Linked to Changes in Breathing, Other Motor Bases of Speech

Dysarthria in MG Linked to Changes in Breathing, Other Motor Bases of Speech

In people with myasthenia gravis (MG), slow or slurred speech, called dysarthria, is associated with changes in three motor bases of speech — breathing, phonation, and articulation — according to a small study from Brazil.

These findings support dysarthria as a common symptom of MG and highlight the importance of referring MG patients for speech therapy evaluation, the researchers said.

Of note, phonation is the ability to produce sounds through the vibration of the vocal cords, while articulation refers to the coordinated movements of the lips, tongue, teeth, and lungs to produce speech sounds, both in isolation and within words and sentences. Both are impaired in people with MG.

The researchers also found that speech difficulties were not associated with MG disease severity or duration. Further, a self-perception speech questionnaire was unable to distinguish different levels of speech impairment among the patients — meaning people with the neuromuscular condition may not be fully aware of the degree of their speech disabilities.

Based on this data, the investigators recommend a “proactive approach” to speech therapy, regardless of patient perceptions of their speech abilities.


In MG patients, the immune system mistakenly attacks the connection between nerves and muscles, resulting in muscle weakness and fatigue. This often affects patients’ oral muscles and their ability to chew and swallow (dysphagia) and speak (dysarthria).

Dysarthria is estimated to be the first symptom in 2–27% of MG patients and to affect 60% of patients with disease progression. It is characterized by excessive nasal tone, high-pitched sounds, vocal fatigue, breathy voice, and intermittent voice loss. Incomplete closure of vocal cords when producing sounds (phonating), impaired articulation, and changes in verbal fluency are other common symptoms of dysarthria.

However, there are limited data on the speech patterns of this patient population.

Now, researchers in Brazil set out to address this knowledge gap and to analyze potential associations with clinical aspects of MG.

The study involved 38 MG patients — 26 women and 12 men, with an average age of 50.2 years — and 18 age- and sex-matched healthy individuals, used as controls. Those with MG, who had been living with the disease for an average of 14.2 years, were followed at a single outpatient clinic for neuromuscular diseases.

All participants were asked to perform specific speech tasks, which were recorded and analyzed. These tasks included sustaining the sound of a vowel, repeating diphthongs and syllables, and counting numbers. Of note, a diphthong is a sound formed by the combination of two vowels in a single syllable.

The analyses used distinct speech parameters to assess the five motor bases of speech: breathing, phonation, articulation, resonance, and prosody. Prosody is the intonation, stress, and rhythm of speech, while resonance is the way speech sounds as it passes through the throat, mouth, and nose.

The MG patients also completed a number of validated questionnaires assessing disease severity, daytime sleepiness, depression, quality of life, and self-perception of speech.

The results showed that 18 (47.4%) participants had mild dysarthria, while four (10.5%) had moderate speech impairments.

An auditory-perceptual analysis indicated that a greater proportion of MG patients showed changes in phonation (71% vs. 6.3%) and breathing (52.6% vs. 6.3%), compared with healthy individuals. In fact, speech-related breathing was significantly worse in patients than in controls.

In addition, an acoustic analysis detected significant changes between the groups in terms of phonation and articulation.

Taken together, these results highlighted that people with MG often show speech difficulties associated with changes in breathing, phonation, and articulation, all motor bases of speech.

Notably, the self-perception questionnaire “was not sensitive to differentiate patients with greater and lesser speech impairment,” the researchers wrote, adding that these findings were consistent with previous reports in other neurological diseases.

Since patients may not be fully aware of the degree of their speech disabilities, it is important that health teams have a “proactive approach, referring them to speech therapy clinical evaluation independently of patients’ complaints, based not only on self-perception questionnaires,” the team wrote.

The data did not show a significant association between speech impairment and disease severity or duration, which indicates the importance of speech assessment in this patient population regardless of disease parameters, the investigators added.

The team also said that future studies with a speech analysis tailored for the MG patient population are needed to fully understan

 Source: Myasthenia Gravis News


National Handwashing Awareness Week

National Handwashing Awareness

From December 1st – 7th we are celebrating National Handwashing Awareness Week. Now more than ever washing your hands for 20 seconds is very important to keep viruses and bacteria away from you. If you do not have a timer you can sing the “Happy Birthday” song twice!  

When should you wash your hands: 


  • Before, during and after food preparation
  • Before eating 
  • Before and after caring for sick person 
  • After using the toilet 
  • After touching garbage 
  • After sneezing or coughing 


The best way to clean your hands is with soap and water, if they are not available you can use hand sanitizer that contains at least 60% alcohol.  Just keep in mind hand sanitizers do not get rid of all types of germs!

Source: CDC