OTL-200 for Metachromatic Leukodystrophy Investigational New Drug Application Gets Approved
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OTL-200 for Metachromatic Leukodystrophy Investigational New Drug Application Gets Approved

  In a recent press release, gene therapy company Orchard Therapeutics ("Orchard") announced that the FDA approved Orchard's Investigational New Drug (IND) application for OTL-200. This gene therapy solution is…

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Natural History Study on Metachromatic Leukodystrophy To Use Innovative Methodology
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Natural History Study on Metachromatic Leukodystrophy To Use Innovative Methodology

As reported in Biospace, the National Organization for Rare Disorders (NORD) has just opened registration for patients to take part in a natural history study on metachromatic leukodystrophy (MLD), a…

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New Reduced-Intensity Conditioning for HSCT Found Beneficial for 20 Rare Diseases

A recent study published in the journal Blood Advances has documented that hematopoietic stem cell transplantation (HSCT) is both safe and effective for children with many different kinds of inherited nonmalignant conditions…

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Defective Immune Cells Cause Rare Childhood Neurological Disorders
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Defective Immune Cells Cause Rare Childhood Neurological Disorders

A recent University of Sheffield news release explores findings which highlight a potential cause of leukodystrophies: immune cells. This group of rare childhood neurological disorders impacts the myelin sheath, the…

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Bone Marrow Transplants and GALC: Learning to Treat Krabbe Disease
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Bone Marrow Transplants and GALC: Learning to Treat Krabbe Disease

A team of researchers recently clarified how cellular mechanisms work in the treatment of Krabbe disease. Previously, researchers believed that bone marrow transplants assisted in providing positive patient outcomes through…

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Community Celebrates 18th Birthday for Alexander Disease Patient
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Community Celebrates 18th Birthday for Alexander Disease Patient

According to a story from koco.com, the community of Ada, Oklahoma, recently held a birthday celebration for a local affected by Alexander disease. Hunter Goodwin recently turned 18 years old,…

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The Rare Disease Institute is Working to Bring Patients Treatments Faster
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The Rare Disease Institute is Working to Bring Patients Treatments Faster

Rare Disease Institute The Rare Disease Institute (RDI) is a new initiative aimed at improving collaboration between rare disease stakeholders. The aim is to facilitate faster diagnosis and better care…

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Miracle Flights has Paid for Over 130,000 Flights to get Rare Disease Patients to Appointments
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Miracle Flights has Paid for Over 130,000 Flights to get Rare Disease Patients to Appointments

When your child receives a rare diagnosis that needs instant care, you don't have time to contemplate finances and plan out your budget. You just have to act. That was…

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Researchers Gain New Insights into Alexander Disease Mortality Based on Protein Analysis
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Researchers Gain New Insights into Alexander Disease Mortality Based on Protein Analysis

By Caitlin Seida from In The Cloud Copy Although it’s already known that the cause of Alexander disease (AxD), a type of leukodystrophy, is a misfolded protein known as GFAP.…

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4-Year-Old With Metachromatic Leukodystrophy Must Seek Out-of-State Treatment
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4-Year-Old With Metachromatic Leukodystrophy Must Seek Out-of-State Treatment

  Finding the correct doctor for treatment can be difficult, especially if one has a rare disease. Because few doctors specialize in rare diseases, they are often spread across the…

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OTL-200 Granted Accelerated Assessment for Treatment of Metachromatic Leukodystrophy (MLD)
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OTL-200 Granted Accelerated Assessment for Treatment of Metachromatic Leukodystrophy (MLD)

  The development of treatments and medicines for diseases can take a long time. These treatments come from many hours of research, studies, trials, and waiting for approval from the…

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2019 United Leukodystrophy Conference Highlights

Patient Worthy had the privilege of attending another United Leukodystrophy Conference. The ULF’s 2019 event took place at the end of June in Illinois and had a record setting number…

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Boy With Leukodystrophy Gets to Pet His Favorite Animals Thanks to the Make-a-Wish Foundation
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Boy With Leukodystrophy Gets to Pet His Favorite Animals Thanks to the Make-a-Wish Foundation

According to a story from CBS Philly, Jackson Guernsey, who is just two years old, was diagnosed with rare leukodystrophy just six months ago. While the disease has been taking…

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Rare Diseases Could Be Diagnosed Earlier with Better Training for GPs to Avoid Years of Misdiagnosis

Although each disease on its own may be rare, a huge number of people are living with a rare disease-- and half of these people are children. About 30 percent of these children…

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Proof of Concept Data Highlights Viability of Gene Therapy for Metachromatic Leukodystrophy
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Proof of Concept Data Highlights Viability of Gene Therapy for Metachromatic Leukodystrophy

According to a story from Market Screener, the genetic medicines company Homology Medicines, Inc., recently announced the presentation of data which revealed that the company's proprietary virus vectors, which are…

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Cute Video of Girl with Rare Disease Goes Viral on Facebook

Meet Ruby, a beautiful 3 year old who was diagnosed with hypomyelination with atrophy of basal ganglia and cerebellum, or H-ABC, shortly after her birth. H-ABC is a type of leukodystrophy…

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Parents Determined to Find a Cure for Rare Leukodystrophy in Memory of their Son
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Parents Determined to Find a Cure for Rare Leukodystrophy in Memory of their Son

According to a story from abc.net.au, ever since Massimo Damiani was first diagnosed with a leukodystrophy, his parents, Sally and Stephen, have been committed to promoting research efforts and new…

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A Treatment for Inherited Metabolic Disorders is Being Trialled in Patients
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A Treatment for Inherited Metabolic Disorders is Being Trialled in Patients

A new treatment under development has produced promising results in patients with blood cancers and is now being tested in inherited metabolic disorders, reports Financial Buzz. Inherited metabolic disorders are…

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