Trials
Past, Current and Upcoming Trials at Rare Disease Research
Current Trials
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A genetic disorder causing developmental disabilities and nerve-related symptoms.
Angelman syndrome usually isn't detected until developmental delays become noticeable, usually when a baby is about six to 12 months old.
Symptoms include lack of crawling or babbling, minimal speech, and frequent smiling and laughter. Inability to walk, move, or balance well (ataxia) can also be symptoms.
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Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. In some cases, heart involvement (cardiomyopathy) is the first sign. BMD is caused by a genetic change in the DMD gene and is inherited in an X-linked recessive manner. BMD is very similar to Duchenne muscular dystrophy, except that in BMD, symptoms begin later and progress at a slower rate.
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An inherited disorder of progressive muscular weakness, typically in boys. Many people with muscular dystrophy have Duchenne syndrome. Girls can be carriers and mildly affected, but the disease typically affects boys. Symptoms include frequent falls, trouble getting up or running, waddling gait, big calves, and learning disabilities.
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Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness.
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Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child's face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy).
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A genetic condition causing mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms. Symptoms include delays in talking, anxiety, and hyperactive behavior. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet.
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Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is also part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.
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Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of the body, depending on the specific type.
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Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body.
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MCT8-specific thyroid hormone cell transporter deficiency (MCT8 deficiency) is a genetic disorder characterized by severe intellectual disability, an impaired ability to speak, low muscle tone (hypotonia), disorganized movements and specific thyroid test abnormalities.
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Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by genetic changes in the ARSA and PSAP genes.
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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare maternally inherited mitochondrial disorder that predominantly affects the nervous system and muscles. MELAS typically appears in childhood after a period of normal early development. This condition manifests with recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits in children or young adults, usually between the ages of 2 and 15.
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. Stroke-like episodes with temporary muscle weakness on one side of the body (hemiparesis) may also occur and this can lead to altered consciousness, vision and hearing loss, loss of motor skills and intellectual disability.
The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting.
MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1.
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Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting your body's involuntary (autonomic) functions, including blood pressure, and motor control.
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Myotonic dystrophy type 1 (DM1) is the chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation.
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A headache of varying intensity, often accompanied by nausea and sensitivity to light and sound. Migraine headaches are sometimes preceded by warning symptoms. Triggers include hormonal changes, certain foods and drinks, stress, and exercise. Migraine headaches can cause throbbing in one particular area that can vary in intensity. Nausea and sensitivity to light and sound are also common symptoms.
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Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Loss-of-function mutations in PAH, the rate-limiting enzyme in phenylalanine (Phe) catabolism, lead to the neurotoxic accumulation of Phe. Toxic Phe concentrations cause intellectual disability (in children), cognitive impairment, psychiatric disease, attention deficit disorders, epilepsy, depression, anxiety, and behavioral problems (de Groot 2009).
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A genetic disorder that causes obesity, intellectual disability, and shortness in height. Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15 passed down by the father. The most common symptoms of Prader-Willi syndrome are behavior problems, intellectual disability, and short stature. Hormonal symptoms include delayed puberty and constant hunger leading to obesity.
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Mitochondrial diseases are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. A typical human cell relies on hundreds of mitochondria to meet its energy needs. Because muscle and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. Other frequent complications include impaired vision, abnormal heartbeat, diabetes, and stunted growth. Usually, a person with a mitochondrial disease has two or more of these conditions, some of which occur together so regularly that they are grouped into syndromes.
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Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons — nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity, such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching.
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A nervous system disorder involving repetitive movements or unwanted sounds. Tourette syndrome starts in childhood. It involves uncontrollable repetitive movements or unwanted sounds (tics), such as repeatedly blinking the eyes, shrugging shoulders, or blurting out offensive words.
Upcoming Trials
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A genetic disorder causing developmental disabilities and nerve-related symptoms.
Angelman syndrome usually isn't detected until developmental delays become noticeable, usually when a baby is about six to 12 months old.
Symptoms include lack of crawling or babbling, minimal speech, and frequent smiling and laughter. Inability to walk, move, or balance well (ataxia) can also be symptoms.
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Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that affects the muscles of your child's face, shoulders, upper arms, and lower legs. These muscles weaken and shrink (atrophy).
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Myotonic dystrophy type 1 (DM1) is the chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation.
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A genetic disorder that causes obesity, intellectual disability, and shortness in height. Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15 passed down by the father. The most common symptoms of Prader-Willi syndrome are behavior problems, intellectual disability, and short stature. Hormonal symptoms include delayed puberty and constant hunger leading to obesity.
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A nervous system disorder involving repetitive movements or unwanted sounds. Tourette syndrome starts in childhood. It involves uncontrollable repetitive movements or unwanted sounds (tics), such as repeatedly blinking the eyes, shrugging shoulders, or blurting out offensive words.
Past Trials
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An inherited disorder of progressive muscular weakness, typically in boys. Many people with muscular dystrophy have Duchenne syndrome. Girls can be carriers and mildly affected, but the disease typically affects boys. Symptoms include frequent falls, trouble getting up or running, waddling gait, big calves, and learning disabilities.
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Dyskinetic CP (also called athetoid CP) is one type of cerebral palsy. Children with dyskinetic CP have trouble controlling muscle movement. They have twisting, abrupt movements.
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COVID-19 is caused by a coronavirus called SARS-CoV-2. Older adults and people who have severe underlying medical conditions like heart or lung disease or diabetes seem to be at higher risk for developing more serious complications from COVID-19 illness.
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Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe. Children with Dravet syndrome initially show focal (confined to one area) or generalized (throughout the brain) convulsive seizures that start before 15 months of age (often before age one). These initial seizures are often prolonged and involve half of the body, with subsequent seizures that may switch to the other side of the body. These initial seizures are frequently provoked by seizures or exposure to increased temperatures or temperature changes, such as getting out of a bath. Other seizure types emerge after 12 months of age and can be quite varied. Status epilepticus – a state of continuous seizure requiring emergency medical care – may occur frequently in these children, particularly in the first five years of life.
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Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. There are at least 20 different types of Limb-girdle muscular dystrophy.
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A weakness and rapid fatigue of muscles under voluntary control. The condition is caused by a breakdown in communication between nerves and muscles. Symptoms include weakness in the arm and leg muscles, double vision, and difficulties with speech and chewing.
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Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs. People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.
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A disorder in which nerve cell activity in the brain is disturbed, causing seizures. Epilepsy may occur as a result of a genetic disorder or an acquired brain injury, such as a trauma or stroke. During a seizure, a person experiences abnormal behavior, symptoms, and sensations, sometimes including loss of consciousness. There are few symptoms between seizures.
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A genetic disorder that causes obesity, intellectual disability, and shortness in height. Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15 passed down by the father. The most common symptoms of Prader-Willi syndrome are behavior problems, intellectual disability, and short stature. Hormonal symptoms include delayed puberty and constant hunger leading to obesity.
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Mitochondrial diseases are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. A typical human cell relies on hundreds of mitochondria to meet its energy needs. Because muscle and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. Other frequent complications include impaired vision, abnormal heartbeat, diabetes, and stunted growth. Usually, a person with a mitochondrial disease has two or more of these conditions, some of which occur together so regularly that they are grouped into syndromes.
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A nervous system disorder involving repetitive movements or unwanted sounds. Tourette syndrome starts in childhood. It involves uncontrollable repetitive movements or unwanted sounds (tics), such as repeatedly blinking the eyes, shrugging shoulders, or blurting out offensive words.
We’re looking for volunteers to participate in clinical studies for a number of rare conditions.
Contact us to learn more. If you might be a good fit for a clinical study, our team will reach out to you as soon as possible.