Clinical Trials
Clinical Investigation of Neurologic Channelopathies (CINCH)
Natural History Study of Spinal Muscular Atrophy (SMA)
Ascorbic Acid Treatment of Charcot-Marie Tooth Type 1A (CMT)
Acetazolamide vs. Dichlorphenamide vs. placebo for the treatment of patients with Hyperkalemic or Hypokalemic Periodic Paralysis (HYP-HOP)
Pilot trial of Etanercept for the treatment of Dermatomyositis
Clinical Investigation of Neurologic Channelopathies (CINCH)
Neurologic channelopathies are caused by a genetic mutation that affects the function of ion channels in cell membranes. Andersen-Tawil syndrome, the non-dystrophic myotonias, and the episodic ataxias are all rare forms of neurologic channelopathies. The underlying causes of these conditions are only partly understood and there are no established treatments. The diseases are characterized by episodes of muscle weakness, stiffness, and/or incoordination.
CINCH is a collaborative effort of doctors, patient organizations, and federal health agencies that want to learn more about these diseases so that ultimately they can offer better treatments to patients.
Visit the CINCH Web Site for more information
Natural History Study of Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) is a genetic condition in which the muscles throughout the body are weakened because the cells in the spinal cord and motor nerves do not work properly. Approximately 10-16 people out of every 100,000 children are born with this condition. SMA is characterized by muscle weakness and decreased muscle tone. This weakness affects legs more than arms and proximal muscles (those closest to the body like hips and shoulders) more than distal muscles (those farthest from the body like fingers and toes). This weakness tends to be equal between the right and left sides of the body. In addition to the muscles we have in our arms and our legs, we also have muscles in our chest which help us with breathing. In many cases of SMA these muscles are also affected, leading to some breathing problems.
The Pediatric Neuromuscular Clinical Research (PNCR) Network is a consortium of:
- Columbia University Medical Center (New York City)
- Children's Hospital (Boston)
- The Children’s Hospital of Philadelphia