Connor’s Leukodystrophy Story
I remember the day I realized something was wrong, as clearly as if it happened this past weekend. It was a beautiful morning in June. I was taking part in…
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Connor’s Leukodystrophy Story
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Marc Nolan’s Announces Partnership with the United Leukodystrophy Foundation
The United Leukodystrophy Foundation (ULF) is proud and excited to announce a partnership with Marc Nolan, a Chicago-based footwear brand, who is launching a new campaign with us “Celebrating life’s…
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Marc Nolan’s Announces Partnership with the United Leukodystrophy Foundation
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ICYMI: Neuraxpharm and Minoryx’s Special Information Film Raises Leukodystrophy Awareness
Rare Disease Day may be long past in February, but the fight for rare disease awareness continues. Earlier this year, specialty pharmaceutical company Neuraxpharm Group ("Neuraxpharm") and biotechnology company Minoryx…
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ICYMI: Neuraxpharm and Minoryx’s Special Information Film Raises Leukodystrophy Awareness
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Rare Community Profiles: How Two Parents Are Working to Change the Narrative Around CASK Gene Disorder
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
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Rare Community Profiles: How Two Parents Are Working to Change the Narrative Around CASK Gene Disorder
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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change
When you’re a baseball fan, any chance you get to join in and really experience the game is amazing. Seven-year-old Ella McKee has always been fascinated by baseball. She loves…
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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change
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RI-MUHC Team Develops First Mouse Model of 4H Leukodystrophy
During her postdoctoral studies, Dr. Geneviève Bernard first discovered the gene responsible for 4H leukodystrophy (also known as 4H syndrome), a rare disease affecting the central nervous system. Now,…
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RI-MUHC Team Develops First Mouse Model of 4H Leukodystrophy
A Family Raises Tubb4a Leukodystrophy Awareness: Killian’s Story
The journey to a rare disease diagnosis can be long and daunting - and, in some cases, may mean facing a few misdiagnoses first. According to KTVB7, this is what…
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A Family Raises Tubb4a Leukodystrophy Awareness: Killian’s Story
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Mom Raises 4H Syndrome Awareness
24-year-old Georgia Hughes was concerned when she noticed that her son Myles, age 3, had missing teeth. After a number of doctor visits and MRIs, Myles was diagnosed with 4H…
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Mom Raises 4H Syndrome Awareness
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Ahwatukee Family Raises Awareness of Metachromatic Leukodystrophy
Dave and Kendra Riley have a beautiful family: them and their daughters Eva, Kiera, and Olivia. Yet the family has faced some scary and difficult obstacles over the last…
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Ahwatukee Family Raises Awareness of Metachromatic Leukodystrophy
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ION373 Clinical Trial Initiated for Alexander Disease
In a recent press release, RNA-targeted therapeutics company Ionis Pharmaceuticals, Inc. ("Ionis") shared the initiation of a Phase 2/3 clinical trial evaluating ION373 for patients with Alexander disease (AxD). Currently,…
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ION373 Clinical Trial Initiated for Alexander Disease
Forge Biologics Cleared for Clinical Trial of FBX-101, a Krabbe Disease Treatment
The FDA has recently cleared an Investigational New Drug (IND) application for FBX-101, allowing it to move into a Phase 1/2 clinical trial. This gene therapy was developed for the…
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Forge Biologics Cleared for Clinical Trial of FBX-101, a Krabbe Disease Treatment
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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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OTL-200 for Metachromatic Leukodystrophy Investigational New Drug Application Gets Approved
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Krabbe Disease Treatment Receives Orphan Drug Designation
A new treatment for Krabbe disease, PBKR03, has recently been granted the Orphan Drug and Rare Pediatric Disease designations by the FDA, according to an article in GlobeNewswire. These designations…
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Krabbe Disease Treatment Receives Orphan Drug Designation
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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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Natural History Study on Metachromatic Leukodystrophy To Use Innovative Methodology
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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New Reduced-Intensity Conditioning for HSCT Found Beneficial for 20 Rare Diseases
More EU Newborn Screenings Needed for Genetic Disorders
During the 10th European Conference on Rare Diseases & Orphan Products, hosted by Eurodis, many people advocated for improved newborn screening panels. In particular, these panels should include more testing…
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More EU Newborn Screenings Needed for Genetic Disorders
New Study Discovers Impacts of Leukodystrophy Begin Before Birth
As reported in PressReleasePoint, Researchers at the University of Sheffield have found a clue to the cause of a set of rare neurological disorders known as leukodystrophies- an issue with…
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New Study Discovers Impacts of Leukodystrophy Begin Before Birth
Aloneness – a Note from the LRRO’s Bob Wyborn
This was originally published as the Seventh Newsletter for the Leukodystrophy Resource Research Organisation (LRRO) on April 19th 2020. You can read more from their newsletter here. To state the blatantly…
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Aloneness – a Note from the LRRO’s Bob Wyborn
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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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Defective Immune Cells Cause Rare Childhood Neurological Disorders
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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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Bone Marrow Transplants and GALC: Learning to Treat Krabbe Disease
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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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Community Celebrates 18th Birthday for Alexander Disease Patient
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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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The Rare Disease Institute is Working to Bring Patients Treatments Faster
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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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Miracle Flights has Paid for Over 130,000 Flights to get Rare Disease Patients to Appointments
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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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Researchers Gain New Insights into Alexander Disease Mortality Based on Protein Analysis
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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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4-Year-Old With Metachromatic Leukodystrophy Must Seek Out-of-State Treatment
