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Noemi’s Story: Filamin C Myopathy and the Race Against Time

by Assunta Ginanneschi

This blog post tells the story of Noemi B.* and Filamin C myopathy. Noemi is a friend I met via a social networking site. Though we originally met to get practice speaking each other’s language, we soon became good friends.  We met quite regularly for travels around Europe or just shopping and a cup of coffee. It never occurred to me that she had a rare disease, let alone a debilitating one. Then, one day while hiking in the mountains, she suddenly got very tired. I couldn’t imagine how she could get so tired so quickly. That was when she told me she has a rare disease: Filamin C myopathy. I never heard of it before and actually it’s so rare that it wasn’t yet in the Checkorphan database, though thanks to Noemi it is now.

Filamin C myopathy is one of several types of myofibrillar myopathies, a class of muscular dystrophies that affects muscle function and causes weakness, as explained in this video.

In Noemi’s case, the genetic mutation causes a dominant and autosomal disordermeaning that the gene in question is located on one of the numbered, or non-sex, chromosomes, and that a single copy of the disease-associated mutation is enough to cause the disease.


Filamin C is a type of muscle protein found in skeletal and cardiac muscle tissue. Filamin C myopathy therefore primarily affects skeletal muscles, the muscles that the body uses for movement.


Muscle weakness begins the furthest from the heart, slowly progressing to the inability to walk or grasp things, then to respiratory weakness due to inability to expand the lungs, and cardiac abnormalities. For a more detailed, scientific description, click here.


Filamin C myopathy is a very rare disease indeed. There are just a few a dozen cases in the medical literature, and it was just recently that the symptoms were directly related to a genetic cause.

Interestingly, distribution appears random, occurring in many different ethnicities and population distributions. For example, cases have been found in a large German family, in 18 members of a single Macedonian family, and in three members of a Chinese family. It has been found also in a large Australian family and a smaller Italian one.

My friend’s father has also been affected, and the disease has progressed to the point where he is in a wheelchair. Since filamin C myopathy is hereditary, it was important that Noemi got tested, understood potential life-threatening circumstances and got appropriate counseling to make necessary preparations. Diagnosis is made through a genetic testUnfortunately, Noemi’s test came back positive. And that was when her race against time began.


At the moment, her therapy is limited to symptomatic treatment. The physicians recommend that she perform regular aerobic training and to try creatine supplementation, since this has proven to be safe and beneficial in various muscle diseases.


Besides creatine, I wonder what else she could try, maybe some other empowerment drugs or biochemicals (like EPO or L-Carnitine)?


Noemi gave me a nice article to read, that explains the matter in detail. Dr. Kley suggests a new therapeutic strategy: prevent the protein aggregation via early induction of chaperones or specific E3 ligases. Put in other words, the muscle degradation occurs only in the fibers harboring protein aggregates, so the idea is to hinder the aggregations using specific enzymes. What do the experts think about that?

Also, work has begun on stem cell therapy in the treatment of myopathies and Duchenne muscular dystrophy . The question now is which approaches (pharmacological, stem cell, etc.) show the most promise for effective therapies? Why?


The Filamin C myopathy is so rare that currently there are no specific advocacy organizations, but the patients can address muscular dystrophy associations.

I know I’ve got a lot of questions, but if we could get answers just to one of them it would be great for Noemi! At the time of writing, my friend is in her early 30s, so there is some time left to do something. Thanks guys, also on Noemi’s behalf.


*Name changed to protect the patient’s identity.


Filamin C-related myopathies: pathology and mechanisms, Acta Neuropathologica 2013 Jan;125(1):33-46. 

Myofibrillar myopathy by NORD National Organization for Rare Disorders

Luca’s Story: Living with Favism (G6PD deficiency)

They are called “rare diseases”, but experience shows they are not that rare at all!

Personally, I know at least three people affected by rare diseases. In fact, on average, one of  every 10 to 12 people you know has a rare disease. As Jessie J might say, “Nobody’s  perfect”.

Which is to say, everybody has some peculiarity, or if you wish, everybody is rare!

This blog post will concern favism, also known as glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency). Let’s start with the story of my good friend Luca T.* I still remember his wedding…what a wonderful day!

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OPKO’s GeneDx Study of More Than 10,000 Individuals Tested with Multigene NGS Hereditary Cancer Panel Reveals New Risks

MIAMI – OPKO Health, Inc., through its subsidiary GeneDx, today announced results from the largest published study to date of patients who received hereditary genetic testing with Next Generation Sequencing (NGS) cancer panels. The study, “Pathogenic and Likely Pathogenic Variant Prevalence among the First 10,000 Patients Referred for Next Generation Cancer Panel Testing,” was published in the December 2015 issue of Genetics in Medicine. GeneDx’s analysis of the data generated from the first 10,030 patients highlights the clinical utility of testing for multiple cancer genes to identify variants that would not have been identified through previously used testing methods. The patients, who were referred for testing between August, 2013 and October, 2014, underwent genetic testing for panels of genes associated with hereditary cancer.

While many patients were found to carry pathogenic or likely pathogenic variants in well-established, high-risk cancer genes, approximately half of the pathogenic variants identified were in genes with moderate risk and in recently identified cancer genes. Notably, among women with breast cancer, 50% of positive findings were in genes other than BRCA1 or BRCA2. Additionally, several individuals had pathogenic variants in high-risk genes that were somewhat unexpected, so clinical presentation alone might not have prompted testing for these genes

“We believe that molecular diagnostic testing for panels containing multiple genes are significantly more accurate in determine the heritable factors which increase the risk of cancer, and may permit more tailored treatment for cancer patients and screening for their family members,” said Sherri Bale, PhD, FACMG, Co-Founder and Managing Director of GeneDx. “Our experience, based on a large database of patients, demonstrates that multi-gene panels have the potential to identify pathogenic variants in genes that would not typically have been tested and most likely would have been missed. This study provides important empirical data for clinical decision-making when choosing between single genes and NGS cancer panel testing for a variety of cancers.”

About OPKO Health, Inc.:

OPKO Health, Inc. is a diversified healthcare company that seeks to establish industry-leading positions in large, rapidly growing markets. Our diagnostics business includes Bio-Reference Laboratories, the nation’s third-largest clinical laboratory with a core genetic testing business and a 420-person sales force to drive growth and leverage new products, including the 4Kscore® prostate cancer test and the Claros®1 in-office immunoassay platform. Our pharmaceutical business features Reade™, a treatment for SHPT in stage 3-4 CKD patients with vitamin D insufficiency (March 29, 2016 PDUFA date) and VARUBI™ for chemotherapy-induced nausea and vomiting (oral formulation launched by partner Tesaro, IV formulation in Phase 3). Our biologics business includes hGH-CTP, a once-weekly human growth hormone injection (in Phase 3 and partnered with Pfizer), and a long-acting Factor VIIa drug for hemophilia (entering Phase 2a). We also have production and distribution assets worldwide, multiple strategic investments and an active business development strategy. More information is available at http://www.opko.com.

GeneDx and its parent company BioReference Laboratories Inc. are members of the OPKO Health, Inc. (NYSE: OPK) group of companies. GeneDx is a world leader in Genomics with an acknowledged expertise in rare and ultra rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx performs more clinical Whole Exome Sequencing tests than any other diagnostic lab in the world. The GeneDx mission is to make clinical testing affordable and available to people with rare genetic conditions and their families. GeneDx provides testing to patients and their families in more than 55 countries. To learn more, please visit http://www.genedx.com.


OPKO Health, Inc.
Carly Erickson, 202-600-4558
Tara Mackay, 305-575-4100
Investor Relations
Rooney & Associates
Terry Rooney, 212-223-0689
Marion Janic, 212-223-4017
Anne Marie Fields, 212-838-3777
Bruce Voss, 310-691-7100

Nanotech drug delivery shows promise for improved melanoma treatment

PORTLAND, Ore. – Researchers have developed a new three-drug delivery system for cancer treatment, especially metastatic melanoma, the deadliest form of skin cancer – and shown that the system may have particular value with cancers like this that often spread through the lymphatic system.

The new technology takes advantage of nanoparticles that can migrate to, and increase the effectiveness of an attack on cancer cells in the body’s lymph nodes. This can also reduce the development of drug resistance and the broader toxicity often associated with this type of chemotherapy.

The findings were made with laboratory animals, and just published in the Journal of Controlled Release by researchers from the College of Pharmacy at Oregon State University. The work was supported by an OSU startup fund, and a provisional patent has been granted for this technology.

“Melanoma can be a very difficult cancer to treat because it often metastasizes and travels through the lymphatic system,” said Adam Alani, an assistant professor in the Oregon State University/Oregon Health & Science University College of Pharmacy, and lead author on this research.

“Melanoma has a high mortality rate because the lymph nodes tend to act as a haven for cancer cells, and allow them to resist treatment through chemotherapy,” he said.

The new OSU research, however, was able to combine three anti-cancer drugs at the same time into a nanoparticle delivery system. After injection, these nanoparticles primarily migrated to lymph nodes, acted in a synergistic manner that was more powerful than any one drug could be separately, and were able to maximize their impact in those locations while minimizing the development of drug resistance and overall toxicity.

Laboratory mice treated with this approach all survived. The therapy caused no apparent negative effects, and at least one type of the nanoparticles migrated effectively to distant lymph nodes, where the drugs significantly reduced the number of melanoma cells.

More research with animals, experiments with more aggressive forms of cancer, and eventually human clinical trials will still be needed for any treatment is available for use.

This could become an important advance in the treatment of any type of cancer that tends to move through the lymphatic system, Alani said. This includes melanoma, but also breast, head and neck, prostate, pancreatic, lung and gastric cancers.

Up to 80 percent of melanomas metastasize through the lymphatic system, the researchers said in their report, and the tumor cells even secrete growth factors to further streamline their progress. The enlarged lymphatic vessels “act as a freeway for the metastatic cells to gain access and spread to distal lymph nodes and organs,” they wrote in the study.

The major drawback of existing therapies, they said, is the inability to deliver therapeutic concentrations of drugs to the lymphatic system without creating systemic toxicity. Use of drugs one at a time also tends to breed resistance to them.

The nanoparticles used to carry these cancer drugs are stable, increase the drug circulation time, and can deliver multiple drugs in a single step to the desired target, the research showed. They offer a novel therapeutic option for effective melanoma treatment, the scientists wrote in their conclusion.

Other collaborators on this research included Kingston University in London and Pacific University in Hillsboro, Ore.

Adam Alani

Waving White Flag, Celladon Merges With Rare Disease Co. Eiger Bio

Xconomy San Diego — A slew of companies have gone public amidst gene therapy’s recent renaissance, and technological advances have gotten these types of treatments closer than they’ve ever been to impacting healthcare in the U.S.

But today, Celladon offered a reminder of how quickly it can all go wrong in gene therapy. The San Diego biotech and its once promising treatment for a genetic form of heart failure will now effectively disappear, thanks to a merger with a privately held company called Eiger BioPharmaceuticals.

Celladon (NASDAQ: CLDN) has agreed to a deal with Eiger that, if approved by shareholders, would see Eiger’s stockholders become the majority owners of the combined company. The entity would carry forward the Eiger name, and the Palto Alto, CA-based company’s strategic plan to develop treatments for a variety of rare diseases like lymphedema, pulmonary arterial hypertension, and hepatitis D. All of Celladon’s directors and executives will resign from their current positions once the deal is done. The new company will be run by Eiger’s team, which is lead by president and CEO David Cory, and be based in the Bay Area.

This is the type of deal that often happens after a publicly held biotech waves the white flag. In January, for instance, Regado Biosciences of Basking Ridge, NJ, merged with Tobira Therapeutics after safety concerns doomed its potential anticoagulant drug. The combined company is known as Tobira, is one third owned by Regado’s old shareholders, and is now developing drugs for inflammatory and liver diseases. A few years ago, a pain drug developer called Zalicus failed a big trial, and merged with a biosimilars company called Epirus Biopharmaceuticals. Targacept, after a string of clinical failures, merged with Catalyst Biosciences in August. These deals give shareholders of the failed biotech a chance to recoup some value after things go wrong—and a quick way for a private company to tap into the public markets.

Now here’s Celladon, which was a high-flying gene therapy company not too long ago. For those unfamiliar, gene therapy is a way of shuttling genetic instructions into the body via a virus, offering the potential for a long-lasting or even permanent fix for a genetic disease. That promise has tantalized scientists for decades, but as with any new science, the field has gone through a number of ups and downs trying to figure out the best way to safely and effectively deliver these treatments.

The progress of companies like UniQure (NASDAQ: QURE), which has the only approved gene therapy in the world, Spark Therapeutics (NASDAQ: ONCE), which could become the first to win FDA approval of a gene therapy next year, and Bluebird Bio (NASDAQ: BLUE)—not to mention academic groups pursuing treatments for hemophilia and other diseases—has helped bring gene therapy back from the depths. A number of gene therapy companies have gone public over the past few years, and Celladon was one of them. It had the financial support of a number of corporate venture arms, like Pfizer Ventures and Novartis Venture Funds, became the first company to win a “breakthrough therapy” designation from the FDA for a gene therapy, and raised $44 million in an IPO in January 2014.

But despite the progress, there have been some setbacks in gene therapy as well, and Celladon unfortunately became one of the prime examples. Its gene therapy, Mydicar, a proposed treatment for patients with severe heart failure, failed miserably in a mid-stage study in April. Shares immediately plummeted 80 percent, and Celladon was forced to begin layoffs and search for strategic alternatives. Celladon’s shares had closed as high as $27.26 apiece in March, leading up to the data release. They’ve been worth just over $1 over the past several months during the trial fallout.

Those shares roughly doubled this morning following the announcement of the Eiger deal. Through it, a syndicate of investors new to Eiger—RA Capital Management, Sabby Management, Sphera Global Healthcare, Perceptive Advisors, and Monashee Capital Partners—-has teamed with longtime Eiger backers ViVo Capital and InterWest Partners to put $39.5 million into the new company. Eiger will have over $60 million in cash after the merger is completed, though the deal has to be approved by Celladon’s shareholders first. The cash should be enough to get Eiger through Phase 2 trials for at least two of its four programs by late 2016.

The company’s lead drug, lonafarnib (Sarasar), was originally developed by Schering Plough (now owned by Merck) and tested for a variety of cancers. Eiger licensed the drug from Merck, and is now developing it as a treatment for hepatitis D.

Celladon will issue about 85 million new shares to Eiger shareholders and the investors providing the financing. That’ll leave the new syndicate with 33 percent of the company, Eiger stockholders with 45 percent, and current Celladon equity holders with 22 percent.

Less effective antimalarial therapies can help fight malaria better

Oxford University scientists have found that the more effective way to beat malaria is to use less effective drugs some of the time.

The current drug of choice for malaria – artemisinin – is extremely effective at saving lives from the disease, but artemisinin-resistant malaria parasites are spreading as the drug is used more and more. A computer simulation study now suggests that treating malaria in a population by simultaneously using a non-artemisinin therapy amongst more effective artemisinin-based combinations is the best way to combat the disease, while still reducing the spread of drug-resistant malaria. Writing in the Lancet Global Health, scientists at the Nuffield Department of Clinical Medicine at Oxford University found that this combination worked best even when the non-artemisinin drug was only effective 85% of the time in treating malaria.

Currently, to stop the spread of artemisinin-resistant parasites, the World Health Organization (WHO) encourages the use of the drug in combination with other anti-malarials; the malaria parasite would have to become simultaneously resistant to both the drugs in order to survive this two-hit artemisinin combination therapy.

However, malaria parasites in South-East Asia have begun to acquire characteristics to help evade even this double hit, and these resistant strains are likely to spread over the next decade as the use of artemisinin combination therapies becomes more widespread.

Health policy makers are therefore in bind, having to decide whether to safeguard artemisinin effectiveness (by avoiding its overuse), or to encourage the use of artemisinin wherever possible to save people’s lives.

Professor Maciej Boni and his colleagues ran computer simulations to find out if there was an optimal strategy that could stop the spread of drug-resistant malaria parasites across populations, while still effectively treating malaria in individual patients. They found that simultaneously dosing a population with several artemisinin-combination therapies – say, by prescribing artemisinin in combination with different partner drugs on different days of the week – was more effective than either cycling between different artemisinin combination therapies, or by sticking to one specific combination until the combination started failing.

The simulation also found that if this simultaneous dosing also included a combination without artemisinin, malaria parasites that were resistant to artemisinin were slower to emerge, and slower to spread. Including this potentially less effective treatment option didn’t necessarily mean that many more people would not recover from malaria: in the worst case scenario of the non-artemisinin treatment being only 75% as effective as artemisinin combination therapy, fewer than 7% of malaria patients would still have post-treatment malaria parasites in their blood as a result of not being prescribed an artemisinin drug.

Professor Boni said, ‘For this subgroup of patients, second-line treatment with an artemisinin combination therapy would be recommended. The ethical implications of such a treatment policy will need to weighed against the benefit of delaying and slowing down the spread of artemisinin resistance.

‘But the nightmare we all want to avoid is the establishment of artemisinin resistance in Africa, where hundreds of millions of individuals rely on artemisinin-based therapies as their first-line antimalarial treatment. By deploying different antimalarial therapies simultaneously – including non-artemisinin-based therapies – national malaria control programs in Africa should be able to slow down the spread of artemisinin-resistant parasites when they are imported into the continent.’

Tom Calver

Top 10 Costliest Medical Drugs in the World

Top 10 Costliest Medical Drugs in the World

There are some of the pharmaceutical drugs that are very costly and are used to cure some of the rare diseases that may happen to the human beings. There drugs are so much expensive that it requires a very large amount of money if you are in a need of these drugs for medication purpose. We hope that no one requires these drugs ever. So here is the list of the top ten costliest drugs in the world.

10. Aldurazyme

Aldurazyme Top 10 Costliest Medical Drugs in the World

Our list starts with the drug Aldurazyme which is at the number tenth spot in our list of the top ten costliest drugs in the world. The name of the company that produces this drug is Genzyme and BioMarin Pharmaceutical. The annual cost of this life saving drug is 200,000 US dollars. This drug is also named as the Laronidase. This drug was approved in May 2003 for sale in different parts of the world. This pharmaceutical drug is used for the treatment of Mucopolysaccharidosi I. This medicine is given to the patients who has age between 5 & 65 and suffer with the Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I.

9. Cerezyme

Cerezyme Top 10 Costliest Medical Drugs in the World

The next pharmaceutical drug in our list is named as Cerezyme. To get this life saving drug one will have to pay 200,000 US dollar annually. This drug is manufactured by the pharmaceutical company named as Genzyme. The main ingredient of this drug  is Imiglucerase and it was first approved by the FDA on 23rd May 1994 and from then on the commercial sale of this drug got started.  This medicine is used for the treatment of a disease which is named as Gaucher. This medicine is actually the recombinant DNA which is produced as the analogue of human glucocerebrosidase. This medicine is sold in the market in the bottles of 200 units/vial and 400 units/vial.

8. Fabrazyme 

Fabrazyme Top 10 Costliest Medical Drugs in the World

Fabrazyme is the next drug in our list of the top ten costliest drugs in the world. This drug is manufactured by the pharmaceutical company named as Genzyme. The man ingredient of this drug is Agalsidase Beta. This drug was approved by the FDA for sale in the market on 24th April 2003. This drug which is one of the costliest in the market is used for the treatment of the disease called as Fabry. This drug is available in the form of injections of 35mg and 5mg. It is also sold in the form of Vial which are of 35mg/vial and 5mg/vial.

7. Arcalyst

Arcalyst Top 10 Costliest Medical Drugs in the World

The next medicine which is costliest in the world and is in our list is named as Arcalyst. This drug is manufactured by the pharmaceutical company named as Renege Pharmaceuticals. The other names of this drug are Rilonacept and IL-1 Trap. This medicine is used for the treatment of disease named as the Cryopyrin and its associated periodic syndromes. And also for the treatment of Muckle-Wells syndrome, familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease. If you are in need of this drug then you will have to pay 250,000 US dollars per year which is too much for a common man. This drug has been named as the Orphan Drug by the United States Food and Drug Administration. This drug was approved by the FDA on 8th May 2012.

6. Myozyme

Myozyme Top 10 Costliest Medical Drugs in the World

Myozyme is the next drug that we have in our list of the top ten costliest drugs in the world. The scientific name of this life saving drug is Alglucosidase alfa. Again Genzyme is the pharmaceutical company that manufactures this drug for sale in different parts of the world. This drug is actually an enzyme replacement therapy orphan drug which is used by the people who suffer from a deadly disease named as Pompe. Pompe is a disease which causes the rare lysosomal storage disorder. This drug is a type of substitute given to the human body so as to compensate the deficiency of enzyme which causes Pompe. For this drug you will have to pay 300,000 US dollars per year.

5. Cinryze

Cinryze Top 10 Costliest Medical Drugs in the World

Cinryze is the next drug in our list of the top ten costliest drugs in the world. For this drug one will have to pay 350,000 US dollars per year which is too much. This drug is manufactured by the pharmaceutical companies named as ViroPharma and Lev Pharmaceutical. This life saving drug was approved by the FDA in October 2008 and since then it is available in the market for sale. This drug is used in case of angioedema attacks in adolescents and also for the adults with Hereditary Angioedema. The area where this drug affects is the immune system and the paediatrics. For this drug one has to pay 350,000 US dollars every year.

4. Folotyn

Folotyn Top 10 Costliest Medical Drugs in the World

Pralatrexate is the drug that we have at the number forth spot in our list of the top ten costliest drugs in the world. This drug is sold by the brand name if Folotyn all over the world. If you are in a need of this drug then you will have to pay 360,000 US dollars annually. This is a drug which is used in the anti-cancer therapy. This drug is also used for the treatment of the refractory peripheral T-cell lymphoma disease. This drug was approved by the United States Food and Drug Administration in September 2009 and since then the commercial sale of this drug started.

3. Naglazyme

Naglazyme Top 10 Costliest Medical Drugs in the World

Naglazyme is the drug that we have at the number third spot in our list. This drug is manufactured by the BioMarin Pharmaceutical named company. For this drug one will have to pay 365,000 US dollars per year and so it becomes the third costliest drug in the whole world. The FDA approved this drug in May 2005 for sale in various parts of the world. This drug is used for the treatment of a disease named as Mucopolysaccharidosis VI and it affects the musculoskeletal part of the human body. This drug is also used for the Maroteaux-Lamy syndrome condition that may happen in any human beings.

2. Elaprase

Elaprase Top 10 Costliest Medical Drugs in the World

Idursulfase is the costliest drug that we have at the number second spot in our list. This drug is sold throughout the world by the brand name of Elaprase. For this life saving drug one will have to pay 375,000 US dollars per year. This drug is manufactured by the pharmaceutical company named as Shire Pharmaceuticals. This drug is used for the treatment of the disease named as Hunter syndrome which is also known as the Mucopolysaccharoidosis II.

1. Soliris

Soliris Top 10 Costliest Medical Drugs in the World

The costliest drug which is manufactured in any part of the world is undoubtedly Soliris. Eculizumab is the actual name of this life saving drug and it is traded by the name of Soliris throughout the world. This drug is actually a monoclonal antibody which is directed against the protein named as C5. This drug is manufactured by the pharmaceutical company named as Alexion Pharmaceuticals. If you are in need of this drug then you will have to pay 409,500 US dollars every year which is far more than any other drug in the whole world. This drug helps in the treatment of diseases such as hemolytic uremic syndrome and paroxysmal nocturnal hemoglobinuria.