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Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (IPANEMA)

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The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease. It is most common within the African American population, with an incidence of 1 in 14,000. In the U.S. more broadly speaking, the combined incidence of all three variants of the disease is 1 in 40,000. These estimates relied on the frequencies of three mutations in the gene acid alpha-glucosidase (GAA), leading to variants of the disease. Criteria for inclusion in the studies were often non-selective; in many cases, molecular genetic screening was done at birth. With such a high prevalence of Pompe disease reported, it is expected that large university medical centers specializing in neuromuscular diseases would see a higher incidence of Pompe disease among their patients. From a comparable Italian multicenter study, it appears that Pompe disease accounts for 3% of all patients presenting with proximal weakness with or without CK elevation.

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Natural History Study of Spinal Muscular Atrophy (SMA)

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Spinal Muscular Atrophy (SMA) is the leading genetic cause of death in infancy. It is a devastating disease that leads to progressive loss of those nerve cells that control our muscle bulk and movement. Patients develop increasing weakness in all muscles, eventually including those needed for breathing. In more than half of patients, SMA starts in infancy and typically leads to death within the first 2 years of life. In others, the disease begins in childhood and leads to significant disability.

SMA is caused by a defect in the “Survival of Motor Neurons” (SMN1) gene. Researchers are hopeful to find a cure, because nature has provided humans with a second gene, almost an identical copy of the SMN1 gene. Normally, the second gene does not contribute much, but researchers think that its function can be increased by medications.

To find out whether these medications help patients with SMA, we have to conduct clinical trials. Here, we propose to prepare for clinical trials. We will invite SMApatients to join our research effort. We will examine them regularly to better understand their disease. The visits will include questions, physical exam, blood drawing, and sometimes X-rays and a skin biopsy. We will use modern computer methods to process the information. While we are doing this, we will plan a clinical trial. Once the clinical trial begins, we will offer SMA patients participation if they meet the criteria for that trial.

We will make sure that the participants’ privacy is maintained and that the study risks are as low as possible.

Identifying an effective SMA treatment is very important because there is currently none. Clinical trials are the only way to decide whether a new treatment works in SMA patients or not.

Sponsor: Columbia University

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Ascorbic Acid Treatment of Charco-Marie Tooth Type 1A (CMT)

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This study will look at the impact of ascorbic acid (Vitamin C) on the progression of disease in people with CMT1A as compared to volunteers receiving a placebo. This study will assess whether is it futile to proceed with a larger, longer-term, placebo-controlled study.

Sponsor: Wayne State University

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Dichlorphenamide vs. Placebo for the Treatment of Patients with Hyperkalemic or Hypokalemic Periodic Paralysis (HYP-HOP)

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The purpose of this study is to compare Dichlorphenamide with placebo (an inactive substance) for prevention of episodes and for improvement of strength in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis. This study will also look at the long-term effects of Dichlorphenamide in periodic paralysis.

Sponsor: University of Rochester
This trial no longer recruiting.

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Methotrexate in Myasthenia Gravis (Methotrexate)

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Myasthenia gravis is a rare neuromuscular disorder characterized by weakness and fatigability of ocular, bulbar, and extremity musculature. The specific aim of this study is to determine if oral methotrexate is an effective therapy for myasthenia gravis (MG) patients who are prednisone dependent. Patients will be randomized to receive either methotrexate or placebo and those who are entered onto this trial will have symptoms and signs of the disease while on prednisone therapy. The hypothesis is that adding methotrexate therapy in these patients will improve the MG manifestations so that the prednisone dose can be reduced and clinical measures of MG severity will improve.

Sponsor: University of Kansas Medical Center

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Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find the Optimum Steroid Regimen (FOR-DMD)

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The Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. Using the results of this study, the investigators aim to provide patients and families with clearer information about the best way to take these drugs.

Contact: Kimberly Hart
585-275-3767
kim_hart@urmc.rochester.edu

Sponsor: University of Rochester