The road to cure a rare disease
Charlie's Genetic Journey
The road to cure a rare disease
About Charlie's Genetic Journey
Charlie's rare disease
Charlie's rare disease
Charlie's rare disease
Charlie has a rare gene mutation on one copy of the RHOBTB2 gene. At age 7, it caused the onset of a severe movement disorder that resulted in him losing control of his movements and all ability to eat, talk, or walk. Through extensive inpatient and outpatient rehabilitation therapy and medications, he regained some function, but still ha
Charlie has a rare gene mutation on one copy of the RHOBTB2 gene. At age 7, it caused the onset of a severe movement disorder that resulted in him losing control of his movements and all ability to eat, talk, or walk. Through extensive inpatient and outpatient rehabilitation therapy and medications, he regained some function, but still has no use of his right hand, has mixed tone in his right leg that affects his gait and requires him to wear braces to walk, has reduced intelligibility to his speech, and requires a gtube for supplementation as he fatigues when eating.
Why we need a cure
Charlie's rare disease
Charlie's rare disease
There isn’t a known progression of RHOBTB2 symptoms since it is so rare. When it onsets, Charlie loses all functionality, and the length of an episode varies from the longest being multiple weeks, to the shortest being about 30 minutes and very painful. Doctors do not know if there’s a possibility he won’t recover from an episode or will
There isn’t a known progression of RHOBTB2 symptoms since it is so rare. When it onsets, Charlie loses all functionality, and the length of an episode varies from the longest being multiple weeks, to the shortest being about 30 minutes and very painful. Doctors do not know if there’s a possibility he won’t recover from an episode or will lose more function. Also, the longer his right side is locked up, the harder it may become for him to regain use.
Goals for his future
Charlie's rare disease
Goals for his future
Charlie's gene mutation looks like it will benefit from an antisense oligonucleotides (ASO) knockdown. NLorem amazingly has taken on developing an ASO for Charlie, including the cost of development of around $2 million. However, we will need to cover the cost of injection at a hospital, which is projected to be around $100k yearly, and po
Charlie's gene mutation looks like it will benefit from an antisense oligonucleotides (ASO) knockdown. NLorem amazingly has taken on developing an ASO for Charlie, including the cost of development of around $2 million. However, we will need to cover the cost of injection at a hospital, which is projected to be around $100k yearly, and potentially for the rest of his life. We're eager to raise this money to get him this treatment, and to pave a path for treatment for other kids with nano-rare diseases.
Donate to Cure Charlie
An ASO knockdown is promising to treatment for Charlie, but may cost around $100k yearly for the rest of his life. If you would like to donate to help Charlie, please use the link below. Your donation is tax deductible.
Medical Steps Taken Toward the ASO Knockdown
Connecting with Research Labs
Connecting with Research Labs
Connecting with Research Labs
We've connected with three labs that agree an ASO knockdown approach seems like it would work for Charlie's gene mutation. Stanford is currently doing a lot of research on RHOBTB2, and if someone you know has RHOBTB2, please email Dr. LaRocca at tlarocca@stanford.edu to join the RHOBTB2 patient registry.
Whole genome sequencing
Connecting with Research Labs
Connecting with Research Labs
Whole genome sequencing was ran in October 2023, and later through NLorem so that it can be analyzed to understand the true number of mutations within Charlie's RHOBTB2 gene. This is the first test of the viability of an ASO knockdown for Charlie's exact mutation.
IPSC generation
NLorem ASO development
NLorem ASO development
Induced pluripotent stem cells (IPSC) will be used to create stems cells (more specifically brain cells) that can then be tested to see if an ASO knockdown or other treatment works against his actual misfiring cells. We had a blood draw for this at Cedars-Sinai in December 2023 and they were able to yield 40 million cells to attempt reprogramming into IPSC.
NLorem ASO development
NLorem ASO development
NLorem ASO development
NLorem has graciously agreed to develop the ASO knockdown for Charlie. They are currently in the in-vitro cell-based screening for good drug candidates as part of the ASO discovery stage. We are hopeful for a treatment by the end of 2026 or early 2027.
Contact Us
For all inquiries, please email us.
Charlie's Genetic Journey
