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Rare Diseases


exRNA Therapeutics recognizes the urgency in addressing rare diseases. Globally, over 7,000 rare diseases affect millions, with India alone harboring around 70 million sufferers. Often overlooked, these diseases demand attention due to limited treatment options and delayed diagnoses. Our mission is to bridge this gap by leveraging cutting-edge research and innovation to develop targeted therapies. With the advent of genomics, there's unprecedented potential to revolutionize rare disease treatment. By collaborating with experts and stakeholders, we're committed to driving forward the development of life-changing cures, offering hope to patients worldwide. AntiSense Oligonucleotide  therapy is a promising approach for rare disorders as it alters RNA processing, potentially restoring protein function. G1 is in preclinical stage, it holds potential for halting disease progression and improving disease symptoms of Autism Spectrum Disorder.

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Muscular Dystrophy


Muscular dystrophy encompasses genetic diseases causing progressive muscle weakness and degeneration. Common features include muscle wasting, weakness, and mobility difficulties, alongside potential cardiac and respiratory complications. Molecularly, mutations in genes encoding muscle proteins disrupt muscle fiber structure and function. In Duchenne muscular dystrophy, dystrophin deficiency compromises muscle membrane integrity, leading to increased vulnerability to damage, inflammation, and secondary cellular processes. Various forms of muscular dystrophy involve mutations in different genes, impacting diverse aspects of muscle physiology. Understanding these molecular mechanisms is vital for developing targeted therapies to mitigate disease progression and improve quality of life. 

Ongoing Studies on Muscular Dystrophies

Congenital muscular dystrophy, Fukuyama type,FKTN


Congenital muscular dystrophy, Fukuyama type (FCMD), represents a rare subtype characterized by its occurrence predominantly in Japan and among individuals of Japanese descent. Symptoms typically manifest early in infancy and include muscle weakness, hypotonia, joint contractures, and cognitive impairment. Complications may involve respiratory insufficiency, feeding difficulties, and cardiac anomalies. Molecularly, FCMD arises from mutations in the Fukutin (FKTN) gene, crucial for glycosylation processes essential for muscle and brain development. This mutation prevalence is notably higher in the Japanese population compared to other ethnic groups. Globally, FCMD is exceedingly rare, with estimates suggesting an incidence of 1 in 100,000 births. Its rarity and unique clinical presentation underscore the importance of genetic screening and specialized care for affected individuals, emphasizing the need for global collaboration to better understand and manage this condition.

Laminin subunit alpha 2- related congenital muscular dystrophy, LAMA2


Laminin subunit alpha 2-related congenital muscular dystrophy, or LAMA2, is a rare genetic disorder characterized by muscle weakness and wasting. It affects approximately 1 in 100,000 individuals worldwide. Symptoms typically manifest in infancy or early childhood and may include hypotonia, delayed motor development, joint contractures, and respiratory difficulties. Currently, there is no cure for LAMA2, and treatment primarily focuses on managing symptoms and improving quality of life. The disease occurs due to mutations in the LAMA2 gene, which encodes a protein essential for maintaining the structural integrity of muscle fibers and nerve cells. These mutations disrupt the function of laminin-α2 protein, leading to muscle degeneration and weakness.

Telethonin-related limb-girdle muscular dystrophy R7, TCAP


Telethonin-related limb-girdle muscular dystrophy R7 (LGMD R7) is a rare genetic disorder with an unknown precise prevalence, but it is significantly less common than other forms of LGMD. The disease typically manifests in late childhood to early adulthood, presenting with progressive weakness and wasting of the proximal muscles of the hips and shoulders (limb-girdle region). Symptoms include difficulty walking, climbing stairs, and lifting objects. LGMD R7 is caused by mutations in the TCAP gene, which encodes telethonin, a protein crucial for muscle integrity. These mutations disrupt muscle function and lead to progressive muscle degeneration. Current treatments focus on managing symptoms through physical therapy, orthopedic devices, and respiratory support. No cure exists, but research into gene therapies is ongoing.



TRIM32-related limb-girdle muscular dystrophy R8, TRIM32


TRIM32-related limb-girdle muscular dystrophy R8 (LGMDR8) is a rare genetic disorder caused by mutations in the TRIM32 gene. It is characterized by progressive muscle weakness and wasting primarily affecting the muscles around the shoulders and hips. LGMDR8 is estimated to affect fewer than 1 in 1,000,000 individuals worldwide. Symptoms typically manifest in late childhood or early adulthood and may include difficulty climbing stairs, lifting objects, and standing from a seated position. Currently, there is no cure for LGMDR8, and treatment focuses on managing symptoms and improving quality of life through physical therapy and supportive care. The TRIM32 gene encodes a protein involved in muscle development and regeneration. Mutations in this gene disrupt protein function, leading to muscle degeneration and weakness in individuals with LGMDR8. Understanding the molecular mechanisms underlying TRIM32-related LGMDR8 is essential for developing potential therapeutic interventions to alleviate symptoms and improve patient outcomes.

Calpain-3-related limb-girdle muscular dystrophy R1, CAPN3


Calpain-3-related limb-girdle muscular dystrophy R1 (LGMDR1) is a rare genetic disorder caused by mutations in the CAPN3 gene. It affects approximately 1 in 100,000 individuals worldwide. LGMDR1 is characterized by progressive muscle weakness and wasting, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Symptoms usually emerge in late childhood or early adulthood and may include difficulty rising from a seated position, walking, and climbing stairs. Currently, there is no cure for LGMDR1, and treatment focuses on managing symptoms and improving quality of life through physical therapy and supportive care. The CAPN3 gene encodes the calpain-3 protein, which plays a crucial role in muscle fiber remodeling and repair. Mutations in this gene disrupt protein function, leading to impaired muscle regeneration and the characteristic muscle weakness seen in individuals with LGMDR1. Understanding the molecular mechanisms underlying CAPN3-related LGMDR1 is vital for developing potential therapeutic strategies to alleviate symptoms and improve patient outcomes.

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Amyotrophic lateral sclerosis (ALS)


Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord. With a prevalence of approximately 4 to 6 cases per 100,000 people worldwide, ALS commonly manifests with muscle weakness, twitching, and eventually paralysis. The disease's molecular mechanism involves the gradual degeneration of motor neurons, disrupting communication between the brain and voluntary muscles. This results in progressive muscle atrophy and loss of function. ALS severity varies, but it typically leads to significant disability and shortened life expectancy, often due to respiratory failure within a few years of diagnosis. Currently, there is no cure for ALS. We are at experimental stage of developing the drug formulation for ALS.

FUS (Fused in Sarcoma): Involved in RNA splicing and transport. Mutations in FUS are associated with approximately 4% of familial ALS cases and are known to cause a particularly aggressive form of the disease.

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Autism Spectrum Disorder (ASD)


Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by challenges in social interaction, communication, and repetitive behaviors. Its prevalence has increased, affecting approximately 1 in 54 children in the US. In India ASD is prevalent in 1-2% of population however, due to social stigma, the cases are underreported. The precise molecular mechanisms are complex and multifactorial, involving genetic and environmental influences. Symptoms vary widely, including difficulties in socializing, repetitive behaviors, sensory sensitivities, and speech delays. Current therapies focus on early intervention, behavioral therapy, speech therapy, and medication for co-occurring conditions like anxiety or ADHD. While there's no cure, interventions aim to improve quality of life and functioning, highlighting the importance of tailored support and understanding. Several genetic factors are associated with the disease. We are under experimental stage of formulating drug which has potential to treat ASD by Antisense oligonucleotide therapy.