NRC - Arizona Neuromuscular Research Center

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At the Neuromuscular Research Center, we participate in planning and carrying out research that may benefit patients that we typically see. We also do our best to stay informed about the research that other physicians and organizations are conducting so that we can provide our patients with as many treatment options as possible

We currently have studies enrolling or soon to be enrolling for the following diseases and/or complications of these diseases. Please call the research coordinator at 480-314-1026 for more information.

Bibliography

1. Sivakumar K, Dalakas MC. Autoimmune syndrome induced by omeprazole. Lancet 1994;344:619-20.

2. Isaacson SH, Sivakumar K, Pomeroy K, Asher DM, Ramos-Alvarez M, Gibbs CJ Jr. Gajdusek DC, Dalakas MC. Cellular localization of poliovirus in the spinal cord during acute poliomyelitis. Ann N Y Acad Sci 1995;753:194-198.

3. Sivakumar K, Sinnwell T, Yildiz, McLaughlin A, Dalakas MC. Study of Fatigue in muscles of patients with Post-Polio Syndrome by in vivo 31P Magnetic Resonance Spectroscopy: A metabolic cause for fatigue. Ann N Y Acad Sci 1995;753:397-402.

4. Luciano CA, Sivakumar K, Spector SA, Dalakas MC. Reinnervation in clinically unaffected muscles of patients with prior paralytic poliomyelitis: correlation between macro-EMG and histology. Ann N Y Acad Sci 1995;753:394-396.

5. Spector SA, Gordon PL, Yildiz E, Sivakumar K, Hurley BF, Dalakas MC. Methodological consideration in evaluating the effect of strength training in patients with post-polio syndrome. Ann N Y Acad Sci 1995;753:402-405.

6. Sivakumar K, Cervenkova L, Dalakas MC, Leon-Monzon M, Isaacson SI, Nagle JW, Vasconcelos O, Goldfarb LG. Exons 16 and 17 of the amyloid β-precursor protein gene in familial inclusion body myopathy. Ann Neurol 1995;38:267-269.

7. Sinnwell TM, Sivakumar K, Soueidan S, Jay C, Frank JA, McLaughlin AC, Dalakas MC. Abnormal energy metabolism of muscle in AZT treated patients observed by 31P Magnetic Resonance Spectroscopy. J Clin Invest 1995;96:126-131.

8. Sivakumar K, Shienart C, Lidov M, Cohen B. Symptomatic epidural lipomatosis in a patient with pituitary Cushing's syndrome. Neurology 1995;45:2281-2283.

9. Sivakumar K, Vasconcelos O, Goldfarb LG, Dalakas MC. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria and absence of the common exon 5/intron 5 junction point mutation. Neurology 1996;46:1337-1342.

10. Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Monzon M, Dubnick M, Gajdusek CD, Goldfarb LG. Nonsense mutation in the phosphophructokinase muscle subunit gene associated with retention of intron 10 in one of isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Proc Natl Acad Sci USA 1995;92:10322-10326.

11. Molinari SP, Sivakumar K, Corbin D, Yahr MD. Central neurocytoma: an unusual intraventricular tumor. Mt Sinai J Med 1995;62:436-438.

12. Poretsky L, Rubio SI, Naha KK, Sivakumar K, Dalakas MC. Co-existence of diabetes and phosphofructokinase deficiency. Endocrine Practice 1996;2:100-102.

13. Spector SA, Gordon PL, Yildiz E, Sivakumar K, Hurley BF, Dalakas MC. Strength gains without muscle injury after strength training in patients with postpolio muscular atrophy. Muscle Nerve 1996;19:1282-1290.

14. Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and description of a quadriceps sparing phenotype in non-Iranian Jews. Neurology 1996; 47:977-984.

15. Cervenkova L, Sivakumar K, Nagle JW, Dalakas MC, Goldfarb LG. Is hereditary inclusion body myopathy a "familial prion disease"? Ann Neurol 1996; 40:128.

16. Dalakas MC, Sivakumar K. The immunopathological and inflammatory differences between dermatomyositis, polymyositis and sporadic inclusion body myositis. Curr Opin Neurol Neurosurg 1996;9;235-239.

17. Luciano CA, Sivakumar K, Spector SA, Dalakas MC. Electrophysiologic studies and histologic studies in clinically unaffected muscles of patients with prior paralytic poliomyelitis. Muscle Nerve 1996;19:1413-1420

18. Dalakas MC, Sonies B, Dambrosia JM, Sekul EL, Cupler EJ, Sivakumar K: The efficacy of high-dose intravenous immunoglobulin in patients with inclusion body myositis. Neurology 1997;48:712-716.

19. Sivakumar K, Semino-Mora C, Dalakas MC. An inflammatory inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis: studies in 3 families. Brain 1997;120:653-661.

20. Spector SA, Sivakumar K. The post-polio syndrome: current concepts and treatment. Infectious Diseases in Medicine 1997;14:462-478

21. Sivakumar K, Vasconcelos O, Goldfarb LG, Dalakas MC. Weakness and phosphofructokinase deficiency. Neurology 1997;49:899.

22. Sivakumar K, Dalakas MC. Inclusion body myositis and myopathies. Curr Opin Neurol Neurosurg 1997;10:413-420.

23. Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC. HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol 1998;84:139-142

24. Goldfarb LG, Park K, Cervenakova, Lee H, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in Desmin associated with familial cardiac and skeletal myopathy. Nature genetics 1998;19:402-403.

25. Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998;26;161:23-8.

26. Sivakumar K, Sambuughin N, Selenge B, Hagle JW, Baasanjav D, Hudson LD, Goldfarb LG. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. Ann Neurol 1999;45:680-3.

27. Dalakas MC, Park K, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy: a distinct, distal-onset skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med. 2000;342:770-780.

28. Dalakas MC, Koffman BD, Fujii M, Spector S, Sivakumar K, Cupler E. A controlled study of intravenous immunoglobulin combined with prednisone. Neurology 2001;56:323-327.

29. Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG. (2001). Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord 2001 Sep;11(6-7):530-7

30. De Bantel A, McWilliams S, Auysh D, Echols C, Sambuughin N, Sivakumar K. Novel mutation of the spastin gene in Familial Spastic Paraplegia. Clin Genet. 2001; 59:364-365.

31. Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 2001;69:204-208.

32. Sambuughin N, De Bantel A, McWilliams S, Sivakumar K. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003; 60:506-508.

33. Dalakas MC, Dagvadorj A, Goudeau B, Park K, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG . Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscular Disorders 2003;13:252-258.

34. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin S, Jordanova A, Kremensky I, Funalot B, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA Synthetase Mutations are Responsible for Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. American Journal of Human Genetic 2003;72(5):1293-9

35. Okuda D, Flaster M, Frey J, Sivakumar K. Arterial thrombosis induced by intravenous immunoglobulin and their therapy with t-PA. Neurology 2003; 60(11): 1825-6.

36. Mai A, Karis J, Sivakumar K. Meningioma with pneumosinus dilatans. Neurology 2003; 60(11): 1861.

37. Aho TR, Wallace RC, Pitt AM, Sivakumar K. Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. Am J Neuroradiol. 2004 Mar;25(3):494-7.

Frequently Asked Questions

1. Will it cost me anything?

Answer: Generally it does not cost the patient anything to participate in a research study. Most costs are covered by the company sponsoring the study or by a grant from other sources. Any costs that will not be covered will be discussed before you give your consent to participate in the study.

2. Is it safe for me to participate in this study?

Answer: Your health is always our first concern at NRC. If you meet all the requirements for the study and we feel that your participation will benefit you then we will recommend that you do the study. If for any reason we feel that your medical condition would put your safety at risk in this study, we will not recommend you participate.

While you are enrolled in the study you will be asked to report any unusual medical events and to complete laboratory tests and periodic visits so that the doctor can monitor you. The doctor will make you aware of any events that have occurred that may affect your decision about continued participation. You are always free to discontinue the study. If you choose to discontinue the study, your standard of care and relationship with your doctor will not be affected.

3. If the medication being tested helps me feel better, will I be able to keep taking it after the study is over?

Answer: It is possible that you may be able to continue the medication if it is already marketed, however, you would be responsible for the cost of the medication. If the medication being tested is not currently available at your local pharmacy, it is unlikely that you will be able to continue it after your participation has ended. Your physician will let you know about the results of the study and when the medication becomes available by prescription as the manufacturer allows.

4. Do I give up any of my confidentiality rights when I become a study participant?

Answer: When study results are published, there are no names or other identifying information included. You study records will be regularly reviewed by the doctor, clinical research coordinator, and study monitor. It is also possible that regulatory agencies and the institutional review board may review your records.

5. What is a consent form and an Institutional Review Board (IRB)?

Answer: Before you participate in any research study, you will be given an informed consent form. This form will tell you about the study, why it is being done, what the risks and benefits are, your obligations, who you can contact, how your private health information will be handled, and your rights as a research participant. Do not sign this form until all of your questions about the study have been answered to you satisfaction.

An Institutional Review Board will review the study protocol (a document describing the study and how it will be carried out) and the informed consent form. The primary purpose of an IRB is to protect you, the study participant. The IRB will make sure that the consent form has all the important information in it that you need to be aware of. If new safety information becomes available during the study an amended consent form will be created, and reviewed by the IRB. You will be asked to read and sign this new consent form. If you ever think that your rights have been violated as a research subject, immediately contact the IRB listed in your consent form.

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)