According to a press release from late July 2021, LX1004, a treatment for patients with CLN2 Batten disease, received both Orphan Drug and Rare Pediatric Disease designations from the…
In a news release from June 29, 2021, biotechnology company Neurogene Inc. shared that its adeno-associated virus (AAV) encoding a codon-optimized human CLN5 transgene (hCLN5) received Orphan Drug designation from…
Mike Jackson's young daughter Evelyn was diagnosed with Batten disease after a neurologist suggested a genetic test which the family could take for free. John Barclay's daughter River passed away…
As originally reported in the BBC; In Leyland, Lancashire, Mother Melanie Moffatt describes feeling miserable on Christmas. She was spending it alone with her 10 year old daughter Matilda who…
In recent years, there have been huge progressions in the field of gene therapy. At its core, gene therapy addresses genetic disorders by using genes to directly treat or…
There are multiple forms of Batten disease, each with their own distinct genetic cause. One of these forms is caused by a mutated CNL6 gene, but researchers were unsure as…
According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to…
How will this affect my child? Will this diagnosis change the way my child can receive medical treatment? If an emergency arises, do I have the knowledge needed to…
As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…
Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…
The Carroll family recently welcomed their daughter Renesmee into the world. They immediately checked for symptoms of Batten disease, a rare, fatal nervous system disorder, as two of Renesmee's siblings…
Neurogene, which works to provide treatments for rare neurological disorders, has recently joined with Behind the Seizure. Behind the Seizure was established by two other companies, BioMarin and Invitae, with…
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All parents have fears for their children, but few of them expect their child to be diagnosed with a disease so rare there are only 2-4 diagnoses for every 100,000…
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A guest speaker at the 2019 Rare Disease Forum recently held at the North Carolina Biotechnology Center acknowledged that screening is necessary to justify the need for a particular…
According to a story from Technology Review, the story of Mila Makovec shows the potential impact that personalized medicine could have on patients while also revealing some of its limitations.…
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Mila Makovec began her life as a normal, healthy infant, and according to a recent article in Science Magazine, she continued along this path until reaching the age of…
According to a story from derbytelegraph.co.uk, four year old Michal Myslicki, who was born with Batten disease, will soon get access to a critical treatment that will prolong his life.…
According to a recent publication from Express Digest, England's National Health Service (NHS) has reversed its earlier position on a rare disease drug after lengthy public debate, now agreeing to…
According to a publication from Fabry Disease News, Amicus Therapeutics has as many as 14 investigational drugs currently in development for the treatment of rare diseases including Fabry, Pompe, and…
According to a story from globenewswire.com, gene therapy, a current hot topic in the medical field, is continuing to make headlines. The drug company Amicus Therapeutics recently announced that a…
Are we ready for our close-up? The second annual Selections from DISORDER: The Rare Disease Film Festival at Biotech Week Boston will be held at the Takeda Auditorium in Cambridge,…
According to a story from the St. Helens Star, Claire Riley, the mother of Kaycee Bradshaw, said in a recent statement that she would not hesitate to move out of…
According to a story from Market Screener, the biopharmaceutical company Theranexus and the Beyond Batten Disease Foundation (BBDF) have recently signed an agreement to work towards the continued development of…
Researchers are studying gene replacement therapy in rare diseases at UT Southwestern Medical Center. Many rare diseases are caused from a defect in a single gene, so replacing the defective…
According to a story from globenewswire.com, the gene and cell therapy company Abeona Therapeutics, Inc. has recently announced that its experimental gene therapy ABO-202 has earned Fast Track designation from…
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