NEWS & LINKS

October 2024 | First Child to be Treated | The first child living with H-abc/Tubb4A was treated in September 2024 using an individualized ASO developed by Nlorem. Follow our Blog for updates!

9 May 2022 | FDA Patient Listening Session | Six families met with the FDA to share their experience caring for a child living with H-ABC. This session helps the FDA understand what is important to patients, caregivers and advocates. It helps inform regulatory decision-making, provide a starting point to inform early stage research and development, educate the FDA about the disease and helps the patient community to understand the FDA’s mission and work. A summary of the session is available on the FDA website for global public access.

15 October 2021 | Business Innovation Magazine | Oxford Biotech Firm SynaptixBio Launched to Develop ‘Revolutionary’ Treatment for One of World’s Rarest Diseases | SynaptixBio is working to develop the world’s first treatment for TUBB4a leukodystrophy, including H-ABC – a debilitating and potentially life-limiting neurodegenerative condition.

28 July 2021 | Yale School of Medicine | H-ABC, it’s…not as easy as 1-2-3 | An interview with our founder and director Michele, and how Yale Pediatric research can help.

25 April 2021 | USA TODAY | Choosing Hope | An experimental gene therapy was little Alissa's only hope. Now, instead of certain death, she faces an uncertain future.

13 October 2020 | H-ABC.org Press Release | Foundation to Fight H-ABC announces sponsor research agreement with University of Massachusetts in collaboration with Yale University to pursue AAV Gene Therapy for H-ABC.

11 August 2020 | The Sun | MUM'S FIGHT | My girl, 11, can’t walk after a rare disease robbed her of her future – now I’ve helped raise £75k to help find a cure. The Sun profiles the founders of our sister organization in the U.K.

23 July 2020 | H-ABC.org Press Release | Penn Plaza, NYC - Very excited to have our foundation featured all day on an electronic billboard in Penn Plaza, thanks to our friends at Adquick.

07 July 2020 | New York Times | ‘It Will Consume Your Life’ 4 Families Take On Rare Diseases | The NYT profiles four different approaches to finding treatment for rare diseases.

04 June 2020 | Washington Post | The coronavirus pandemic claims another victim: Medical research for deadly rare diseases | The WP highlights the difficulties of medical research during the pandemic.

LINKS TO ADDITIONAL INFORMATIOn

RARE X - A collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.

ULF - United Leukodystrophy Foundation provides Resources to patients, families, caregivers, medical professionals, list of physicians treating leukodystrophies, and even financial assistance.

NORD - National Organization for Rare Disorders

Global Genes - Allies in Rare Diseases

H-ABC Foundation UK

UMASS Chan Medical School - Horae Gene Therapy Center

UMASS - Dr. Guangping Gao, PhD

CHOP - Children’s Hospital of Philadelphia

CHOP - H-ABC information page

CHOP - Dr. Adeline Vanderver

GLI-CTN - Global Leukodystrophy Initiative - Clinical Trial Network

GLI - 2018 H-ABC Family Conference, 27 Oct 2018

Vrije Universiteit Amsterdam - Dr. Marjo Van Der Knaap

Yaya Foundation - Foundation for 4H Leukodystrophy

Research Articles