Jansen's Metaphyseal Chondrodysplasia

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Jansen's Metaphyseal Chondrodysplasia
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    Dr. Neena Nizar

    5 Things to Know About Jansen’s Metaphyseal Chondrodysplasia

    Jansen’s metaphyseal chondrodysplasia (JMC) is an ultra-rare skeletal disease that affects less than 30 people worldwide. It is an autosomal dominant skeletal dysplasia, meaning only one parent has to carry the gene for their child to inherit it. Interestingly, I never got a diagnosis until my second son, Jahan, was born. JMC causes symptoms such as: Short-limbed short stature Waddling gait Bowed legs Contracture deformities of the joints, caused by the shortening or hardening of tissue Small hands with clubbed fingers Clinodactyly (fingers that curve toward the palm) A prominent upper face and small jaw Chronic parathyroid hormone-independent hypercalcemia, which causes high blood levels of calcium Hypercalciuria, excess calcium in urine Mild hypophosphatemia, low levels of phosphate in the blood In short, JMC affects our daily lives in ways we are still discovering. With not much research out there, I had to really hustle to create a collaborative network of patients and researchers to make the dream of treatment a reality. In 2017, I set up the Jansen’s Foundation to raise awareness for JMC and find better treatments for this debilitating condition. And our efforts are paying off! The foundation is looking at our first-ever clinical trial for Jansen’s disease in 2020. Being a rare disease patient and a mom to two boys who inherited my “bad” genes has been an incredibly challenging road. But I am grateful for the many profound moments of joy and tenderness my boys share with each other. For those interested in learning more about JMC, here are five things you should know. 1. JMC is usually diagnosed during childhood. The condition is diagnosed based on a combination of radiographic and biochemical abnormalities. However, some patients are not diagnosed until adulthood. 2. JMC is the result of a genetic mutation. JMC is caused by a mutation in a gene that encodes for a specific protein (i.e., PTH/PTHrP receptor). This affects your parathyroid hormone which helps regulate the levels of calcium in your blood. 3. Most cases of JMC occur randomly. Most JMC cases are the result of a spontaneous genetic mutation. Inheritance is autosomal dominant, meaning only one parent has to have the gene for you to get it. Currently, there are about 30 patients worldwide with JMC. 4. JMC causes a variety of symptoms. The main symptoms I experience are bending bones, poor mineralization, and metabolic imbalances. Other symptoms include diminished muscle mass and gradual swelling of certain joints, low coordination and sometimes blindness and/or deafness. 5. There are currently no treatments for JMC. There are no known treatments for JMC, however, with the help of the Jansen’s Foundation, researchers at Harvard Medical School have created a peptide to normalize the activity of the abnormal PTH/PTHrP receptor protein present in Jansen patients. This treatment will be tested in humans soon. The ability to test this treatment gives hope to the power of precision medicine and the future of drug development pathways for rare diseases.

    Dr. Neena Nizar

    Having to Stand Up for Yourself As Someone With a Disability

    When you’re the parent of kids with disabilities, some moments are just heart-aching. This is one of them. My two boys, Arshaan and Jahan, live with Jansen’s metaphyseal chondrodysplasia. They are one of eight people in the world diagnosed with this rare condition. A few days ago, they both had the best time playing with their buddy Cade. Cade, along with the boys, are three of only four kids in America living with Jansen’s disease. So whenever they meet up, it’s always tons of fun. But tonight, the little boys were called upon to be more than just buddies. They were forced into an all-too-common situation where they were called out for being different. It all started when a little boy chased after them calling them “weird” and “ugly!” Arshaan, my 10-year-old, kept telling him to “stop” many times, but the jeering and pointing continued. All three of the boys tried to get away, but it was no use. The words came flying with more hate. Jahan, 8, was confused, and slowly becoming filled with anger and pain. But oh, sweet Cade! He was crushed, absolutely head-hung-over distraught. As the boys sat down to dinner, Jahan quickly realized their buddy’s hurt was deep. He slid closer to his friend — and making light of his own feelings, tenderly said: “Don’t worry bro! We’re here for you! We’ve got this.” While Jahan soothed his buddy, Arshaan gallantly walked up to the mother of the boy who upset our evening. “Excuse me,” he politely interrupted. “I want to tell you that your son wasn’t very nice to my brother and our best friend. He called us ‘weird,’ and we are not weird. We are a little different because our bones are shaped differently. It may also seem ‘weirder’ for you to know that there are only eight people in the world with this disease. But guess what? There are four of those people in this restaurant right now. (He points to me — catching me in between paying for my order and secretly listening in on the conversation between my 10-year-old and a shocked open-mouthed adult woman!). My mother is the fourth. That’s not weird. That’s pretty awesome!” Needless to say, the boy’s mother came over with her son and apologized, letting us know, “That is not how we raised him!” It was a “happy” ending and definitely a teaching moment. But honestly, we are not here for everyone’s “teaching moment,” for someone to swoop down and feel good that they did the right thing. We are not here as guides to your moral compass. We just came in to have a meal, to have a nice evening, not to have our little boys deal with feelings way beyond their age. You want to gut special education programs and the Special Olympics because there’s enough philanthropic money to support it? Well this evening is testimony to the fact that we need to build stronger, more inclusive societies. It is testimony to the fact that maybe a lot of adults need to go back to school and get the “Be Kind” 101 course. The battle is far from over and every day there are new scars these children have to heal from. Sure, we are proud of our boys. We’re proud of their courage, their ability to put things in perspective, their strength of character. Yes. Yes. Yes. But let them be kids, even if they don’t look like others. Let them run around and play, even if they don’t run like others. Let them have their burger without having to teach you to “be kind.” So please, get it straight. Kindness starts with you!

    Dr. Neena Nizar

    The 21st Century Cures Act: What to Know

    The U.S. House Energy and Commerce Committee’s 21st Century Cures initiative is a bipartisan effort to help speed the development and delivery of new health care treatments and cures in America. There is much to be excited about! Along with a welcome increase in funding for the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), the bill primarily focuses on efforts to increase strategic investments in medical research and change some aspects of how the FDA executes its regulatory oversight mission with regard to the review and approval of new drugs, biologics, and medical devices. The 21 st Century Cures Act may just be the answer to the 7,000 or more rare or ‘orphan’ diseases out there that represent a significant public health challenge. Needless to say, as a parent of two boys with Jansen’s metaphyseal chondrodysplasia, an “ultra” rare disease that affects roughly 22 people worldwide, I have been keenly tracking the progress of the bill as it moves through congress. While the Orphan Drug Act of 1983 was successful in helping spur development of drugs for rare diseases, leading to 360 approved treatments for 200 conditions, there is still work to do, as there are roughly 6,800 rare diseases with no approved treatments. Due to the low prevalence of individual rare diseases, the development of treatment tends to become tricky. Questions of economic viability and small patient populations affect research and development of new drugs. The small number of patients also reduces the quality of epidemiological evidence, so long-term projections on the safety and efficacy of these drugs is less reliable. Rare disease challenges Currently, legislation demands that potential therapies demonstrate safety and efficacy in the clinic in order to be approved by regulatory authorities. While these expectations are appropriate and realistic for the majority of common diseases, for drugs being investigated for the treatment of rare diseases, these requirements are either very challenging or implausible for technical, practical or ethical reasons. Another challenge is relatively little is known about the pathophysiology orthe natural history of many rare diseases. There are usually only a small number of experienced clinical investigators worldwide, and usually very little scientific literature published. We were fortunate enough to find a researcher in Boston willing to work on a potential cure for Jansen’s  – a genetic mutation of a gene that encodes for a specific protein (PTH/PTHrP receptor). Equally problematic is the small number of patients available for clinical studies. Enrollment of patients into clinical studies in sufficient numbers to generate meaningful comparative data is therefore a major challenge, usually requiring the participation of many sites across multiple geographies, frequently with very few patients enrolled at each site. This of course leads to more delays, more costs, and further uncertainty. Why the 21st Century Cures Act is so important The 21st Century Cures Act “accelerates the discovery, development, and delivery of life-saving and life improving therapies.” It transforms the quest for faster cures by not only removing barriers to collaborative research, which would allow data to be accessed in an easier manner, but also more importantly, incorporate the patent perspective into drug development and regulatory processes. As the single-most powerful advocate for our child, we – the parents – could now contribute personal experiences to modify and improve treatments. The Cures Act would take into account the unique characteristics of rare diseases by utilizing drug development tools such as biomarkers (a characteristic that can be objectively measured and evaluated as an indicator of normal biological processes or pharmacological responses to a therapeutic intervention) to help with early assessment of a particular course of treatment. Modernizing clinical trials is another exciting feature of the proposed bill. The legislation encourages new and creative adaptive trial designs and aims to utilize the most modern statistical and data tools, while keeping unnecessary paperwork at the minimum. Concerns These are exciting times for medical innovation and advancement, and the 21 st Century Cures Act promises much hope to those with rare diseases. However, not everyone is on board. The bill allows anecdotal and easily manipulated sources of health data to be used to approve new drugs. Utilizing a patient’s experience from clinical experience could sometimes be all it takes for a new drug to reach the market. The use of biomarkers, animal studies and inconclusive preliminary data to support approval, rather than proven health benefits, has unsettled many quarters of the health industry. Having the FDA “rely” on observational analyses, which are less rigorous than randomized controlled trials (RCTs), for approval of medical devices could compromise ethical safety standards. The need for safer, cheaper, more effective, and faster treatment options for rare diseases is abundantly clear. Lack of new drugs highlights strategic failures in our system to encourage Research & Development to focus on neglected diseases—not merely failures in our regulatory system. The worry with the proposed bill is that new laws for the FDA may not necessarily accentuate cures, but rather tie them down in more bureaucracy and unsafe practices. More incentives and penalties for longer review times of potential drugs and devices could be a better way to speed up finding cures. The FDA already has strategies in place to safeguard the patient when developing new drugs. The Office of Orphan Products Development (OOPD) within the FDA assists potential sponsors of orphan products by directing the programs like: Orphan Drug Designation Program – qualifies a product for specialfinancial incentives. Orphan Products Grant Program – provides funding for clinicalinvestigations. Pediatric Device Consortia (PDC) Grant Program – facilitates pediatric medical device development. Humanitarian Use Device (HUD) Program – motivates businesses to develop medical devices for rare diseases and conditions. Hopefully, with all the discussion generated by the 21st Century Cures Act, the FDA can dig deep, really look at where it is going wrong and transform itself into a more flexible and creative institution to introduce new ways to speed up lifesaving treatments for patients with rare diseases. While the House overwhelmingly passed the 21st Century Cures Act, the Senate is yet to take up the bill. My hope is that in all the rhetoric that passes between the naysayers and the advocates, there is transparency on how to close the gap between the discovery and delivery of innovative treatments and products. While changes are appropriate and important, nothing should compromise patient safety.