#leukoencephalopathy

COVID-19 associated with leukoencephalopathy on brain MRI

Credit: Pixabay/CC0 Public Domain According to an open-access article in ARRS’ American Journal of Roentgenology (AJR), COVID-19-related disseminated leukoencephalopathy (CRDL) represents an important—albeit uncommon—differential consideration in patients with neurologic manifestations of coronavirus disease (COVID-19). “Increasingly,” wrote Colbey W. Freeman and colleagues from the University…

New Story has been published on https://enzaime.com/diagnose-correctly-treat/

Diagnose Correctly, Then Treat

For decades, medicine offered little hope to patients with rare genetic diseases like torsion dystonia and adrenoleukodystrophy.

There were too few patients with any one rare disease to be able to study it thoroughly, and it wasn’t always possible to tell what disease a patient had. But this was just the sort of challenge for Dr. S. Ali Fatemi and members of Kennedy Krieger’s neurogenetics research team to take on.

As genetic testing became cheaper, faster and more accurate, Dr. Fatemi, a pediatric neurologist, saw it as the key to solving his patients’ medical mysteries.

“If we can nail a disease down to its molecular problem”—at the DNA level—“we can treat patients in a better, more precise way than if we were trying to treat something nonspecific, like a disability,” says Dr. Fatemi, who directs Kennedy Krieger Institute’s Division of Neurogenetics and Moser Center for Leukodystrophies.

Leukodystrophies are genetic diseases affecting the brain, spinal cord and, often, peripheral nerves. Each type of leukodystrophy is caused by a specific gene mutation leading to abnormal development or destruction of the myelin sheath—a protective layer of fat that insulates nerve fibers. The children Dr. Fatemi sees have sometimes gone for years without a correct diagnosis.

Their parents wonder if there’s any hope. Dr. Fatemi and his colleagues don’t just hold out hope. They study their patients’ DNA and find out what’s going on.

“When you look at the genes, you’ll discover the disease,” he says. “Maybe it’ll be one we know of, and then maybe we can treat it. Or, maybe it’ll be a new one,” and he and his colleagues will work on finding a treatment. In the last five years, they’ve discovered six new diseases by looking at DNA.

AndreaDiagnose Correctly, Then Treat

Five and a half years ago, Andrea, now a teenager, landed in Dr. Fatemi’s clinic with what she’d been told by another neurologist was a conversion disorder.

For the previous two years, her ability to walk had progressively worsened, her left leg bowing outward because her left foot wouldn’t rest flat on the floor. She’d been advised against medical treatment because, she was told by her doctor at the time, the condition was all in her head, her mother says.

Unconvinced, Andrea’s mother took her to Kennedy Krieger. There, they met with Dr. Fatemi and Julie Cohen, a genetic counselor with Kennedy Krieger’s Division of Neurogenetics.

Cohen and Dr. Fatemi took into consideration Andrea’s age, symptoms and ancestry, and suspected that a heritable DNA mutation was the real cause of her mobility difficulties. The mutation, which can be traced back more than 300 years to the central European Jewish community, causes a type of torsion dystonia called DYT1, usually treatable if caught early. A DNA test confirmed the diagnosis.

By narrowing down the possibilities, focusing on the DNA and getting to the bottom of Andrea’s situation,” Dr. Fatemi explains, “we were able to identify the correct treatment for her.

Patients with DYT1 improve dramatically with deep brain stimulation, a surgical procedure. Other forms of dystonia don’t respond to this type of intervention. Just days after undergoing the procedure, Andrea was walking again. Within a few months, she was running, stand-up paddleboarding and—her favorite activity—horseback riding.

She occasionally sees doctors at Kennedy Krieger for follow-up. “I know Dr. Fatemi sees my daughter as his patient for life, because whenever she needs him, he is very supportive and is always there to help her with her medical condition,” Andrea’s mother says. “Dr. Fatemi never gives up on her.”

ALD as a Model for Treating Rare Diseases

Not much used to be known about adrenoleukodystrophy, also known as ALD. But thanks to the work of Kennedy Krieger neurology research associate Ann Moser, her late husband Dr. Hugo W. Moser, and the current Moser Center team, the center has become a mecca for ALD research, housing the world’s largest clinical database and biorepository for ALD. Now, of all the rare genetic diseases we know about, Dr. Fatemi says, ALD is one of the best-studied.

In the coming year, Kennedy Krieger will participate in three trials for new drugs targeting ALD, and it will be “a prominent—possibly a lead—site for these trials,” thanks to the Moser Center’s extensive experience in working with ALD. For patients with rare diseases, trials are often the only way to receive any sort of treatment.

AndreaThe ALD model—studying a disease in depth through basic laboratory and clinical research, collecting a vast repository of information and biological specimens, sharing information with other research centers across the country and around the world, and participating in clinical trials for new drugs—is one that Dr. Fatemi wants to see applied to other rare diseases, like fragile X and Rett syndromes. Only a few other research hospitals in the world follow this approach because it requires a lot of resources, he says.

Dr. Fatemi currently focuses on ALD and LBSL—short for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. LBSL is a newly discovered leukodystrophy not currently studied by any other center in the world. “We decided to study it since it is a potentially treatable disorder,” Dr. Fatemi has found.

As for ALD, “It’s the most common type of leukodystrophy, and perhaps the most devastating one,” he explains.

“Imagine a perfectly healthy boy who dies within two years of diagnosis. It is hard not to cry every single time we have a conversation with the family of a newly-diagnosed child,” he says. “It is heartbreaking.”

AndreaGo Big and Conquer

Identifying a rare disease and determining potential treatments for it is painstaking work, but it means everything—life itself—to Dr. Fatemi’s patients. Sometimes, the treatments they and other rare disease researchers find for one disease turn out to be useful in treating other diseases—both rare and common—like cerebral palsy, Dr. Fatemi says.

The trick, he points out, is that you need to have a lot of patients to study—more than he can find in just the mid-Atlantic area. Collaborating with centers around the world to have a larger sample size to study and using mobile, wearable technologies to collect information about patients living far away from clinics is “the next new thing,” he says.

His vision is a worldwide network of doctors and researchers for every rare disease, like ALD Connect—a global ALD consortium he helped found a few years ago between Kennedy Krieger and several research universities across the world to share information on ALD.

New Story has been published on https://enzaime.com/rare-disease-day-feb-28/

Rare Disease Day Is Feb. 28

With Rare Disease Day just around the corner—on February 28—let’s take a look at two of the hundreds of rare diseases Kennedy Krieger is tackling right now: LBSL and SYNGAP1-related non-syndromic intellectual disability.Providers and family LBSL

LBSL is short for leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation. It is a rare, progressive disorder that affects the brain and spinal cord. Its exact prevalence is unknown—worldwide, only about 100 cases have been reported.

Symptoms of LBSL include abnormal muscle stiffness, difficulty with coordination and walking, and problems with movement and sensation. Some patients require a wheelchair for mobility, some have epilepsy, and some have speech and learning difficulties. Because an individual with LBSL will tend to have a high level of lactate in his or her white brain matter, LBSL can be diagnosed using MRI technology.

This April 18 and 19, Kennedy Krieger will hold a two-day conference, “Help for Today, Hope for Tomorrow,” with the aim of helping families with a child with LBSL better manage the symptoms and progression of the disease.

The conference will provide attendees with opportunities to meet and network with one another, and will feature presentations by clinical experts on topics such as disease management, genetics, nutrition, physical therapy and exercise strategies, overcoming social challenges, updates on clinical and pre-clinical research, and the different faces of LBSL.

Register Now

One of the conference’s sponsors is the foundation “A Cure for Ellie.” Click here to read about Ellie, who was diagnosed with LBSL as a little girl and is being treated for her symptoms at Kennedy Krieger with supplements chosen to boost the functioning of her mitochondria. SYNGAP1-Related Non-Syndromic Intellectual Disability

Last November, the Institute hosted a two-day conference on SYNGAP1-related non-syndromic intellectual disability, a form of cognitive impairment evident in early childhood. Symptoms of SYNGAP1 disorders can include weak muscle tone (hypotonia) and delayed development of speech and motor skills. Seizures (epilepsy) and diagnoses of hyperactivity and autism are common among individuals with the disability.

These symptoms result from mutations in the SYNGAP1 gene, which provides instructions for making the SynGAP protein found at the junctures between nerve cells in the brain. The mutation is usually a spontaneous one—typically, it is neither inherited from a parent nor caused by environmental factors. However, if one parent contributes an abnormal SYNGAP1 gene, a child can develop symptoms. The Genetic Testing Registry, at the U.S. National Library of Medicine’s National Center for Biotechnology Information, provides information about genetic tests for this condition.

This disability is estimated to account for 1 to 2 percent of intellectual disability cases, making it a rare diagnosis, with only about 1 million individuals affected worldwide. The condition appears to be equally prevalent in men and women.

Diagnosis can be challenging, as brain imaging techniques such as MRIs don’t usually show any specific neural abnormalities. Physicians often begin the diagnosis process with a genome-wide test to identify gene mutations.

There are no known disease-altering treatments for SYNGAP1-related non-syndromic intellectual disability. Treatment plans are based on the signs and symptoms present in each person.

Albany, New York, August 10, 2017: Market Research Hub (MRH) has recently announced the addition of a fresh report, titled “Progressive Multifocal Leukoencephalopathy -Pipeline Insight, 2017” to its report offerings. The report provides a complete understanding of the pipeline activities covering all clinical, pre-clinical and discovery stage products.

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The report provides comprehensive insights of the ongoing therapeutic research and development across Progressive Multifocal Leukoencephalopathy. The report provides a complete understanding of the pipeline activities covering all clinical, pre-clinical and discovery stage products. A comparative pipeline therapeutics assessment of Progressive Multifocal Leukoencephalopathy by development stage, therapy type, route of administration and molecule type is also covered in the report. It also has a special feature on the inactive pipeline products in this area. Secondary sources information and data has been collected from various printable and non-printable sources like search engines, News websites, Government Websites, Trade Journals, White papers, Magazines, Trade associations, Books, Industry Portals, Industry Associations and access to available databases. Scope of the report The report provides a snapshot of the pipeline development for the Progressive Multifocal Leukoencephalopathy The report covers pipeline activity across the complete product development cycle i.e. clinical, pre-clinical and discovery stages for the Progressive Multifocal Leukoencephalopathy The report provides pipeline product profiles which includes product description, developmental activities, licensors & collaborators and chemical information Provides pipeline assessment by monotherapy and combination therapy products, stage of development, route of administration, and molecule type for Progressive Multifocal Leukoencephalopathy The report also covers the dormant and discontinued pipeline projects related to the Progressive Multifocal Leukoencephalopathy Reasons to Buy Establish comprehensive understanding of the pipeline activity across this Progressive Multifocal Leukoencephalopathy to formulate effective R&D strategies Gather information of the emerging competitors having potentially lucrative portfolio in this space and create effective counter strategies to gain competitive advantage Identify the relationship between the drugs and use it for target finding, drug repurposing, and precision medicine Plot corrective measures for pipeline projects by understanding the pipeline depth and focus of Progressive Multifocal Leukoencephalopathy therapeutics Devise in licensing and out licensing strategies by identifying prospective partners with the most attractive projects to enhance and expand business potential and scope Modify the therapeutic portfolio by identifying inactive projects and understanding the factors that might have halted their progress

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Table of Contents:

Report Introduction 2. Progressive Multifocal Leukoencephalopathy Overview 3. Pipeline Therapeutics An Overview of Pipeline Products for Progressive Multifocal Leukoencephalopathy 4. Comparative Analysis 5. Products in Clinical Stage 5.1 Drug Name : Company Name Product Description Research and Development Product Development Activities 6. Products in Pre-Clinical and Discovery Stage 6.1 Drug Name : Company Name Product Description Research and Development Product Development Activities 7. Therapeutic Assessment Assessment by Route of Administration Assessment by Stage and Route of Administration Assessment by Molecule Type Assessment by Stage and Molecule Type 8. Inactive Products 8.1 Drug Name : Company Name Product Description Research and Development

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