Research for Rare Diseases
Gene Therapy Research Fundraising
There are approximately 7,000 known rare diseases in the United States, with an estimated 25-30 million total Americans living with rare genetic diseases. While specific conditions can be isolated, the total number of people with an orphan disease is overwhelming.
With a variety of causes, rare diseases can stem from a genetic origin and can be a direct cause of changes in genes or chromosomes. Some believe these diseases can be passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. With so many rare diseases and few affected with each, there is no government funding. The cost of just one disease can run in the millions of dollars.
How are we supposed to raise that kind of money?
The Missing Piece:
Gene Replacement Therapy is the answer and the cure for many children and adults living with an orphan disease in the United States. They are so close to having therapy for every rare disease. What slows up the process is money and politics. The pharmaceutical companies must charge enormous amounts to the patient because it is a one and done cure.
Meet Some Faces of Rare Disease
Gene Therapy Replacement Therapy
Gene Replacement Therapy is the cure and requires approximately $3 million dollars to take any therapy into a clinical trial. We are passionate about leading funding for children nationwide. Every diagnosis has different costs and factors but on average you can expect at least $1 million per participant in a gene therapy trial.
Gene therapies aim to correct or replace dysfunctional genes that are the cause of many diseases. Approximately 85 percent of rare diseases are caused by a genetic mutation, making them ideal targets for gene therapy. Key to bringing gene therapies to market is a comprehensive understanding of clinical trial design and execution, and the regulatory landscape surrounding rare diseases.
In the clinic, gene therapies are often administered using a viral vector, the most common being an adeno-associated virus (AAV). To administer this gene therapy, a healthy sequence of DNA is incorporated into the vector then the vector is injected into a patient. From there, the vector infects the patient’s cells just as a typical virus does, depositing the DNA sequence into the cell’s nucleus. This form of gene therapy, also called gene transduction, effectively causes “infected” cells to produce a functional protein.
One of the greatest success stories in rare ocular diseases is the development of gene therapy for the treatment of biallelic RPE65 mutation-associated retinal dystrophy. The RPE65 gene encodes for the RPE65 protein which is involved in vitamin A metabolism and the conversion of retinol in the vision cycle. Mutations in this gene can lead to functional loss or even death of retinal pigmented epithelial cells, resulting in early vision loss and blindness. In total, approximately 1,000-2,000 people in the US are affected by this form of hereditary retinal dystrophy. Spark Therapeutics developed LuxturnaTM, a gene therapy containing a wild-type copy of the RPE65 gene delivered in an AAV vector. Their pivotal phase III clinical trial provided sufficient efficacy data to earn them FDA approval for the treatment of RPE65 mutation-associated retinal dystrophy in 2017. Patients with hereditary blood disorder, hemophilia B, have also seen significant progress made in gene therapy treatments. Individuals with hemophilia B either lack or possess a non-functional clotting factor IX (FIX) that may lead to spontaneous bleeding. Managing severe disease involves expensive frequent prophylactic infusions of recombinant FIX, thus a huge burden for patients and society. Several gene therapies including AMT-060 and 061 and SPK-9001 deliver functional wild type copies of mutated variants of FIX using AAV vectors. Trial data shows recipients of such gene therapies no longer experience spontaneous bleeding or require FIX infusions, and even some patients achieve near-normal levels of FIX. “These results are, in my view, a breakthrough in the treatment of hemophilia, as treatment can be considered even curative in some patients as they now have FIX levels within the normal range without any need for FIX prophylaxis and [are not experiencing] spontaneous bleedings,” says Dr. Tangelder. Behind these success stories are years of R&D, designing and executing clinical trials, conducting long-term followup visits, and working with regulatory authorities to bring these drugs to market. Clinical trials require significant organization, time, and money to complete, but are critical in the drug development process.
Since January 2019, the Lucas John Foundation has been Raising Awareness for Rare Disease and Gene Therapy – and the foundation is in continual fundraising mode for the cure
Our mission is to raise 100 million dollars to fund gene therapy research across the United States.
The family of Brandon and Chancee Culp in Mesa, Arizona, is fighting for the life of their two-year-old son, Lucas John Culp. He was born in 2018 with a rare disease, Non-ketotic hyperglycinemia (NKH).
NKH is an inborn metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. This creates neurological conditions, including seizures, vision damage, and lack of muscle control.
A rare disease is also known as an orphan disease because drug companies have not taken an interest in developing treatments for them, due to the lower rate of occurrence. Lucas experiences daily seizures that require 24-hour care, and he is fortunate to have six family members assisting around the clock to keep him safe and comfortable.
In the search for a cure, the Culp family took the matter into their own hands and started a foundation to help Lucas and many other families across the nation.
be a lifesaver
Other Ways to Fundraise During Covid-19
With Covid-19, fundraising has been impacted deeply. Determined to keep research alive for the cure, the Culp family created a virtual website platform to host walkathons for nonprofits to use.
Visit Zoomwalkathon.com where we host Zoom the Room for NKH online campaigns fundraisers. Zoom technology allows for a virtual fundraiser while honoring social distancing requirements in every state.
This fundraiser is global with people signed up all over the United States and the United Kingdom with over 100 in attendance.
Since January 2019, the Lucas John Foundation has been Raising Awareness for Rare Disease and Gene Therapy research– and the foundation is in continual fundraising mode for the cure. Due to the rarity of the condition, all the funding for research falls into the laps of the families of these babies.
At the core of the foundation are these essentials
• Fundraising for rare disease research.
• Fundraising for gene replacement therapy.
• Offer scholarships for families
• Care kits for NICU at Phoenix Children’s Hospital.
• Offer financial support to families with children diagnosed with rare diseases.
• A variety of alternative therapy support on the Lucas John Foundation website.
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