Friedreich’s Ataxia Research Pipeline
Friedreich Ataxia Research Alliance
Friedreich Ataxia Research Alliance in short form is known as (FARA). Friedreich Ataxia can be described as a progressive autosomal recessive disease, and a genetic condition that causes initial damage to person’s nervous system & movement problems. It is established in 1998 and supports clinical trials & scientific conferences, biotech/ drug development and basic & transitional research. It conquered a dialogue between public and scientific community worldwide and promotes the exchange of information that enforces medical advances.
It is a non – profit organization proposed to curing Friedreich ataxia and related ataxia’s. Sometimes patients develop the symptoms of poor co – ordination such as gait disturbance (abnormality), scoliosis (curving of spine to one side), heart diseases and diabetes, speech becomes hesitant & jerky and sometimes it affects hearing & vision loss. It does not affect reasoning and thinking ability. (Cognitive functions).
Diagnosis of Freidreich Ataxia
A diagnosis of Friedreich ataxia requires a careful examination, which includes a medical history, absence of reflexes, through physical exam, in particular looking for joint sensation, balance difficulty, and other neurological problems. A diagnosis can be carefully done by reviewing the symptoms of co – ordination, history of neuromuscular disorders in family.
Other tests may help in the diagnosis of Friedrich ataxia, which includes:
- Electromyogram – that checks the health of muscles & nerves.
- Electrocardiogram –gives a graphic representation of the beat pattern of the heart.
- Holder monitor –portable device that continually watches the heart beat for 24 to 48 hours.
- Magnetic resonance imaging- It checks the brain & spinal cord by using powerful magnetic & radio waves.
A conclusive diagnosis of Friedreich’s ataxia can only be made through genetic testing.
Friedreich Ataxia Pipeline
Friedreich ataxia pipeline can be of two types: vertical axis and horizontal axis.
In vertical axis of pipeline indicates that the lead candidates are grouped based on mechanism of action or approach to treatment. It is a visual tool used for communicating the progress of research and development of therapeutic candidates. It also involves where or how each drug might work in a cell.
Horizontal axis of pipeline reviews the key players involved in the therapeutic development for Friedreich ataxia and features for dormant and discontinued pipeline. It indicates the stage of research, where the candidate is in development. It also focuses on improving the quality of life of patients, so that they can perform routine activities by themselves.
Research of Friedreich Ataxia
Research helps us better understand diseases. Healthcare professionals take care about person’s medical history & other neurological problems.
National Institute of Neurological Disorders and Stroke (NINDS) is one of the supporters of Friedreich ataxia that seeks fundamental knowledge about brain and nervous system & to use that knowledge to reduce the burden of neurological disease. NINDS is a component of the National Institute of Health (NIH), which operates as a support system for biomedical research in the world.
Rehabilitative therapy and physical therapy which includes meditation, balancing exercises and so on, those help individuals to become as functionally independent as possible. Many support groups helps us to connect with other patients and their care takers, and they provide us with valuable services. Patient centered information that is developed operates as a driving force behind research for better cures and treatments. In addition to this organizations have an expert that serves as a medical advisor or provide us with a list of doctors or clinics.