Date: Fri, 28 Jul 95 00:54:59 -0400 From: Bob Broedel To: als@huey.met.fsu.edu Subject: ALSD204 ALS-ON-LINE =============================================================== == == == ----------- ALS Interest Group ----------- == == ALS Digest (#204, 27 July 1995) == == == == ------ Amyotrophic Lateral Sclerosis (ALS) == == ------ Motor Neurone Disease (MND) == == ------ Lou Gehrig's disease == == ------ maladie de Charcot == == == == This e-mail list has been set up to serve the world-wide == == ALS community. That is, ALS patients, ALS researchers, == == ALS support/discussion groups, ALS clinics, etc. Others == == are welcome (and invited) to join. The ALS Digest is == == published (approximately) weekly. Currently there are == == 850+ subscribers. == == == == To subscribe, to unsubscribe, to contribute notes, == == etc. to ALS Digest, please send e-mail to: == == bro@huey.met.fsu.edu (Bob Broedel) == == Sorry, but this is *not* a LISTSERV setup. == == == == Bob Broedel; P.O. Box 20049; Tallahassee, FL 32316 USA == =============================================================== CONTENTS OF THIS ISSUE: 1 .. Neurofilament Mutations 2 .. X-ray treatment for excessive spittle A.L.S. Patients 3 .. ALS DIAGNOSIS 4 .. Living a normal life with mechanical ventilation 5 .. many questions from Brazil 6 .. ALS Question 7 .. Question 8 .. APPEL ALS Rating Scale 9 .. Multifocal Motor Neuropathy 10 . Thalidomide 11 . ALS & DHEA 12 . Helix: A Directory of DNA Diagnostic Laboratories 13 . Rilutek (Riluzole) Early Access Program (1) ===== Neurofilament Mutations ========== Date : Mon, 24 Jul 1995 14:04:37 +0100 >From : spgtbjg@ucl.ac.uk (Barry Gibb) Subject: Neurofilament Mutations Scientist at McGill University in Montreal studied mice that were genetically engineered to produce extra neurofilaments. Writing in the latest issue of the British journal Nature, the researchers observed that proteins and other materials didn't move as well in the nerve cells of the genetically engineered mice as in nerve cells from normal mice. The parts of the cell that didn't receive the normal supply of components degenerated, similar to the nerve cells of people with the disease. The work mentioned above is of obvious interest and benefit to researchers working on ALS. It should, however, be born in mind that recent work by the likes of Don Cleveland and Elaine Fuchs have convincingly shown that point mutations in the family of proteins known as intermediate filaments (eg neurofilaments, keratins) are capable of producing quite drastic effects within the the cells in which they reside. Is there any work going on to find point mutations within the neurofilament genes of ALS patients? (2) ===== X-ray treatment for excessive spittle A.L.S. patients ========== Date : Mon, 24 Jul 1995 21:43:33 +0200 >From : aad@educ.uva.nl (Aad Nienhuis) Subject: X-ray treatment for excessive spittle A.L.S. patients I am being x-rayed for my excessive spittle. A healthy person simply swallows it. But because for A.L.S.-patients swallowing becomes increasingly difficult,the spittle just comes out of your mouth. It is not only a physical problem ( the chin becoming lean ) but especially a mental problem. In England already much A.L.S. -patients were being treated, in Holland I was the second patient. In my case the x-ray treatment took two times two minutes, within a week. I was x-rayed on both cheeks. The taste and smell are not affected by the treatment. The x-ray treatment is always final, you can't undo it. But if you are not satisfied with the results, it is possible to have another treatment. Hans Krotje (you can reach Hans by email via: aad@educ.uva.nl) NETHERLANDS (3) ===== ALS DIAGNOSIS ========== Date : Wed, 26 Jul 95 16:43:07 MST >From : r5es_pafo.gis@mail.fws.gov To : bro@huey.met.fsu.edu Cc : 71062.1406@compuserve.com Subject: ALS DIAGNOSIS My father has developed a condition which he believes is ALS, although 1,000,000 worth of tests ranging from Arteriograms to MRI to electroshock tests have failed to produce a diagnosis from a MD. They are willing (and planning) to run more tests. His symptoms started two or more years ago. The first symptom was slurred speech following one or two drinks in the evening. At first it was irregular, later it happened frequently. It progressed to slurred speech, problems with the leg muscles, difficulty swallowing, and night cramps. Now the symptoms usually occur shortly after eating breakfast and again later in the afternoon. Stress and fatigue accelerate the onset of symptoms. Sudden stress can bring them on instantly. My mother forgot her purse in a restaurant, and when she told my father the symptoms appeared instantly. When the symptoms pass normal gait and speech returns. The frequency and intensity of the symptoms increased around the first of January 1995. Several Doctors have stated that ALS does not come and go as in my fathers case. Anyone have any thing to offer regarding this set of symptoms. Thank you, Dave Putnam R.D. #1, Box 182-A Centre Hall, PA 16828 814-364-1091 (4) ===== Living a normal life with mechanical ventilation ========== Date : Tue, 25 Jul 95 15:19:33 EDT >From : ecksteinn@alpha.montclair.edu Subject: Living a normal life with mechanical ventilation Our father was diagnosed with having bulbar-onset ALS on November 5, 1993. Regrettably and pitifully, we were in a stage of denial how ALS would impact our father's day-to-day functioning. Within nine months after the diagnosis, our father had problems with swallowing and breathing. Our father's determination to live resulted in his decision to opt for a feeding tube inserted in his stomach and mechanical ventialtion. Many people would wonder how can you live a "normal" life when there is a collection of durable medical medical equipment in your house. For example, we have two ventilators, two suction machines a feeding pump, and a back-up oxygen tank. Naturally, the more we hear how our father's life is sustained by machines, we feel partially guilty for allowing our father to live. However, we have not yet totally succumbed to a life where one of our parents is a "machine". Instead, we have encouraged our father to speak with his natural voice by connecting a Passy-muir valve to his disposable cuffed fenestrated tracheotomy tube. In addition, we built a ramp outside our house which is accessible to the front door entrance so our father can participate in family excursions. We would not have been successful in motivating our father to face the outside world if he had decided to fully accept the sometimes pessimistic attitude associated with mechanical ventilation. Our father is a champion for overcoming these adversaries. Our mother welcomes phone or mail correspondences at 201-478-1730 or at the following residential address: Mrs. Lydia Eckstein 169 Day Street Clifton, NJ 07011-2525 Craig and Norman Eckstein (5) ===== many questions from Brazil ========== >From : arcadia@io.com (Luiz Claudio Duarte) Subject: ALS Digest: many questions from Brazil Date : Wed, 26 Jul 1995 11:52:48 +0300 Recently, my wife and I have faced a difficult decision. Her father died from ALS ten years ago (he was about fifty). Now, we are thinking about having children and, when we went to a geneticist, she told us that there is about a 50% chance that any one of our children will be affected -- as well as a high chance that my wife is affected, too. Since we as yet have almost no information on this disease, I would like to know if someone can answer the following questions (whether to the Digest or by private e-mail, it doesn't matter): 1. Is there more than one type of ALS? If so, how can they be differentiated? 2. Can ALS be genetically transmitted? If so, what are the chances of transmitting it to a descendent? 3. Is there any way to determine if one is affected with ALS before its onset? Is there any precocious treatment? Luiz Claudio Duarte arcadia@io.com Brasilia, Brazil (6) ===== ALS Question ========== Date : Wed, 12 Jul 95 08:55:31 EST >From : "PAPPAS, ROSEANN" Subject: ALS Question If ALS symptoms begin with weakness in the limbs, will it eventually progress to the bulbar area. I would appreciate any information related to this question. Thank you, Roseann Pappas rapappas@sherwin.com (7) ===== Question ========== Date : Thu, 13 Jul 1995 15:47:00 EST >From : "Dianne Granger (803) 250-8135" Subject: Question I am curious about the relationship between intelligence and the incidence of ALS. My husband was an electrical engineer. In our support group we had a professor, command pilot, designer, and professional engineer. I also know of a minister that had ALS. Thanks! Dianne Granger Morris (8) ===== APPEL ALS Rating Scale ========== Date : Sun, 16 Jul 1995 19:28:23 -0400 >From : rbm@hookup.net (Robert Macdonald) Subject: for ALS ON LINE please APPEL ALS Rating Scale I want to recommend that an ongoing A.L.S. rating survey be implimented in our area. Do any of you know how I can get a copy of the "Appel ALS rating scale"? I read about the Appel Scale in the Myotrophin article in ALSD198. Thank you for any help you can give me. Robert Macdonald, email rbm@hookup.net Fax 905-278-6873. Robert Macdonald rbm@hookup.net (9) ===== Multifocal Motor Neuropathy ========== Listname: "Muscular Dystrophy - Patients, Family, & Friends" : >From : Date : Mon, 17 Jul 1995 21:30:49 -0400 >From : PRICEZRITE@aol.com Subject : Multifocal Motor Neuropathy I'm helping someone find information on Multifocal Motor Neuropathy and the recommended treatment, Intravenous Gammaglobulin, IVIG. If anyone has any help or info, please let me know! June Price (10) ===== Thalidomide ========== Date : Tue, 25 Jul 1995 12:08:26 -0400 >From : Joemogul@aol.com Subject: Thalidomide Does anyone have information on what effect (if any) thalidomide is supposed to have on ALS symptoms? Thanks. (11) ===== ALS & DHEA ========== Date : 18 Jul 95 22:14:29 EDT >From : WILLARD TODNEM <76264.536@compuserve.com> Subject: ALS & DHEA Under "UCSD MEDICINE NEWS" below is a copy of information which I just received in the U.S. mail. I thought you might want to post it in ALS Digest qsince it indicates that DHEA, in addition to its other benefits, is a significant source of IGF-1 the growth factor provided by Cephalon in (Myotrophin). Immediately below is my request for permission to include it in the Digest and his reply. Willard Todnem Dear Dr. Yen: The following is what I propose to send for inclusion in the ALS Digest. I would appreciate your permission to do so. If you feel it should be changed in any way please let me know. I will make the changes or you can edit it and send it back the way you want it sent. Thank you again for your help. Willard Todnem >From : Date : Mon, 17 Jul 1995 13:14:00 -0700 To : 76264.536@compuserve.com Subject: DHEA & ALS Mr. Todnem: We are not doing any research on DHEA & ALS nor do we foresee doing this in the future. You may post the information in the ALS Digest but please indicate that we are not doing research at this time and please do not contact our office. I am unable to prescribe DHEA as the FDA has only approved it for research purposes. Sincerely, Samuel S.C. Yen, M.D., D.Sc. UCSD MEDICINE NEWS DHEA and Aging Background Information Investigator: Samuel S.C. Yen, M.D. W.R. Persons Professor of Reproductive Medicine, UCSD School of Medicine and Medical Center Summary: Our preliminary results using DHEA replacement in well- controlled human trials suggest that DHEA replacement has both psychological and physiological benefits for the aging population. DHEA replacement may, at a future date, be applicable for clinical use in the aging population. Our research does not show that DHEA replacement extends the human lifespan, nor that it has any direct effect on diseases related to aging. In addition, we recommend that longer-term safety studies and larger clinical trials be conducted. Dr. Samuel S.C. Yen Most Recent DHEA Replacement Study In 1993, a double-blind, placebo controlled one-year study was initiated which involved eight men and eight women over age 50. Each patient took either a 100 mg dose of DHEA or a placebo for the first six months, and then crossed-over to take the opposite for the second six months. The goal of this study was to measure DHEAs affect on several biological endpoints. Feelings of well-being were also measured through a daily questionnaire. The preliminary, unpublished results of the 1993 trial will be presented at the DHEA and Aging meeting sponsored by the New York Academy of Sciences on June 18 in Washington, D.C. Preliminary Results of the 1993 Trial Include: Physical and psychological well-being Sixty-seven (67) percent of men and 84 percent of women reported an increase in perceived psychological and physical well-being and in ability to cope with stress. Biochemical Changes DHEA blood levels were restored to those found in young adults within two weeks of DHEA replacement. Blood levels of IGF-1 (insulin-like growth factor) increased significantly in both women and men. This growth factor declines with age and has a multifunctional role in the regulation of cell metabolism and the immune system; thus, it helps regulate cellular well-being. Blood levels of IGFBP-1 decreased. IGFBP-1 is a protein that binds with and inhibits IGF-1. Therefore a decrease in IGFBP-1 results in greater IGF-1 activity. Muscle mass and muscle strength increased. Immune function in men improved, with a significant increase in function of natural killer cells (immune system cells that fight viruses). This change was not observed in women. No Change Insulin sensitivity, which is involved in diabetes, did not change. Percent body fat was not altered. There was no change in libido. Study History: DHEA Replacement In 1985, Dr. Yen began studying the mechanism of DHEA decline in aging women. Yens group found that an enzyme (17,20 desmolase) essential for synthesis of DHEA is functionally reduced with aging. Since it was not possible to activate or replace the enzyme, Yen turned to replacement therapy for DHEA. To determine the right dose, Yen conducted a pharmacokinetics study in postmenopausal women. These studies led to the formulation of a 50 mg daily replacement dose of DHEA. This is a synthetic powder form of DHEA in a capsule to be taken orally before bedtime. Levels of DHEA in the body naturally increase at night. In 1990, a six-month, double-blind, placebo controlled study was conducted with 13 men and 17 women, aged 40 to 70. Each patient took either a 50 mg dose of DHEA or a placebo for the first three months, and then crossed-over to take the opposite for the second three months. The researchers measured patients feelings of well-being through a daily questionnaire. The researchers also measured levels of the growth factor IGF-1. The results of this study were published in the June 1994 issue of the Journal of Clinical Endocrinology and Metabolism, 1994, 78:1360-1367. Results of 1990 Study As published in the Journal of Clinical Endocrinology and Metabolism, results of the 1990, six-month study included: Physical and psychological well-being (as reported by patients through questionnaires) * increased ability to cope with stress * increased physical mobility * improved quality of sleep * decreased joint pain * no change in libido Biochemical Change (as measured in the lab from blood samples) Increased IGF-I (insulin growth factor). This growth factor declines with age and has a multifunctional role in the regulation of cell metabolism and the immune system; thus, it helps regulate cellular well-being. Definition of DHEA: DHEA is a quasi-steroid hormone secreted by the adrenal gland in amounts exceeding all other steroid hormones by the endocrine glands. DHEA secretion increases dramatically at the time of early puberty, reaching a peak at ages 25 to 30. DHEA has been called a marker of aging because after age 30 it declines progressively to 10 percent of young adult levels by age 70. Apart from inducing early pubertal development, the biological function of DHEA is elusive. Animal studies suggest DHEA has numerous protective effects in body function and diseases. It is a multifunctional hormone with an important role in the regulation of the immune system and general cellular well-being. UCSD School of Medicine Collaborators: Omid Khorram, M.D., Arlene Morales, M.D., John Nolan, M.D., Jerry Nelson, M.D. (12) ===== Helix: A Directory of DNA Diagnostic Laboratories ========== Date : Fri, 21 Jul 1995 14:08:04 MET-DST Sender : Human Molecular Genetics >From : Carlo Gambacorti Subject: Helix: A Directory of DNA Diagnostic Laboratories Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section I wanted to call the attention of the readers of this service to Helix: A Directory of DNA Diagnostic Laboratories which is a resource for clinicians who are trying to identify a laboratory that can perform either diagnostic testing or research-related testing for their patients. It is free and is accessible by telephone (206-528-2689) and by fax (206-528-2687). Users are limited to health professionals and must be registered (a simple process that can be handled over the phone). We currently have over 275 diseases listed in Helix with testing performed by about 210 laboratories. Laboratories are listed by disease. Research laboratories are listed as such in Helix with the understanding of users that research laboratories will not be providing results of their studies. Helix is funded by the National Center for Biotechnology Information of the National Library of Medicine through the National Network of Libraries of Medicine of the University of Washington and it is located at Children's Hospital and Medical Center in Seattle, Washington. We welcome inquiries about our service. Roberta A. Pagon, MD Medical Director Maxine Covington Directory Manager Telephone: 206-528-2689 Fax: 206-528-2687 (13) ===== Rilutek (Riluzole) Early Access Program ========== 1,250 PEOPLE WITH ALS TO RECEIVE RILUTEK(R) (RILUZOLE) IN FIRST PHASE OF EARLY ACCESS PROGRAM Over 6,000 Telephone Inquiries Requesting Registration in Program NEW FAIRFIELD, Conn., July 25 /PRNewswire/ -- The National Organization for Rare Disorders (NORD) announced today that 1,250 people with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, were selected for participation in the initial phase of the Rilutek(R) (riluzole) Early Access Program. All patients were selected through a computerized random selection process supervised by NORD. Due to the high volume of inquiries, a second selection has already been scheduled for August 24, 1995. NORD expects that at least 1,000 additional people will be selected at that time. The Rilutek Early Access Program was allowed to proceed by the U.S. Food and Drug Administration (FDA) on June 22, 1995. The program allows a limited number of people with ALS to receive Rilutek free of charge prior to its commercial availability. Rilutek is the first compound to extend survival in people with ALS. "NORD is proud to administer the first access program for a group of patients who have no other treatment option," said Abbey Meyers, President of NORD. "We are also pleased that Rhone-Poulenc Rorer has made such a strong commitment to an orphan disease through its clinical development and support services. And, we are working with the Muscular Dystrophy Association and ALS Association centers which are crucial to the program's success." Future Selections Patients not selected in the initial drawing, as well as newly diagnosed patients and those unable to apply previously, may participate in subsequent selections. Previously submitted enrollment forms will be automatically re- entered into the upcoming selections. First time callers may obtain an official enrollment package by calling 1-800 RX TRIAL (1-800 798-7425). "This selection marks an exciting stride forward in providing ALS patients with access to a viable treatment. The program, the first for the ALS community, gives people with ALS a reason to be optimistic and keep hope alive," said Michael Havlicek, President and Chief Executive Officer of the Amyotrophic Lateral Sclerosis Association (ALSA), a national non-profit health organization dedicated solely to ALS. How the Program Works Patients were selected from a computerized random selection process administered by NORD. All participants will be notified by mail if they have been selected or if their name will be made available for the next random selection process. Selected patients must have a confirmed ALS diagnosis from a designated Diagnostic Confirmation Center (DCC). Participating centers will be available to assist selected patients in at least 66 cities throughout the U.S. and in Puerto Rico. ALS is a fatal neuromuscular disease affecting approximately 30,000 people in the United States and 70,000 people worldwide. It attacks nerve cells in the brain and spinal cord, resulting in muscle paralysis and respiratory failure. Patients generally survive three to five years after diagnosis. NORD is a federation of voluntary health organizations dedicated to serving people with rare (orphan) diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. CONTACT: Abbey Meyers National Organization for Rare Disorders TEL 203-746-6518 === end of als 204 ===