=============================================================== == == == ----------- ALS INTEREST GROUP ----------- == == ALS Digest (#70, 25 November 1993) == == == == ----- amyotrophic lateral sclerosis (ALS) == == ----- motor neurone disease (MND) == == ----- Lou Gehrig's disease == == ----- == == 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. Currently there are == == 170+ subscribers. == == == == To subscribe, to unsubscribe, to contribute notes, == == etc. to ALS Digest, please send e-mail to: == == bro@huey.met.fsu.edu (Bob Broedel) == == == == All interested people may "broadcast" messages to == == ALS Digest subscribers by sending to: == == als@huey.met.fsu.edu == == == == Bob Broedel; P.O. Box 20049; Tallahassee, FL 32310 USA == =============================================================== (1) ===== re: Prodding for new drugs ========== Date : Mon, 22 Nov 93 21:23:19 -0500 >From : cj466@cleveland.Freenet.Edu (Janeth H. Sperry) Subject: possible input for the ALS interest group Dear Bob, Appended is a portion of a letter I sent to Dr. Jim Davis in response to his article in the latest ALS Digest. You may include it or not in the digest as you see fit. You may also edit spelling/grammar etc. ----- I am responding to your letter to the ALS interest group on the internet regarding "Prodding for new drugs". My father has primary lateral sclerosis which is progressing fairly rapidly. I have cystic fibrosis. I am writing because I find your letter while well intended, both simplistic and misguided. Yes, there is a good rationale behind the FDA program of clinical research. However, it is too slow and it is unfair to people with endstage terminal diseases and/or rapidly debilitating diseases. It takes an average of eight years for a drug to make it from discovery to the production plant too slow. People with severe diseases are not "courageously volunteering to be guinea pigs" when they take part in an experimental protocol. These individuals are desperate and for good reason. They have very little to lose, and they do know the risks. Individuals with endstage disease should be able to enter experimental protocols with the assurance that they will get the real drug, not a placebo. Protocols with placebos may be used for less severely ill individuals. The majority of drugs that ill patients want to get their hands on are drugs that have already been through years of trials and are now in phase II or phase III studies. By definition, it has been proven that these drugs are not toxic in the short term and that there is substantial reason to believe they may have therapeutic value. It is not, as your "EXPERIMENTAL" and "BAD" suggest, just some chemical pulled out of thin air. These medicines have already been through many trials in animals which, while not proving therapeutic value and non-toxicity for humans, certainly suggest its possibility. Many severely ill people are quite willing, and should have the right, to risk severe side effects, including death, for the chance to take an experimental drug that has not yet completed phase II and III clinical trials. Yes, the FDA saves lives by keeping drugs off the market that have the potential to harm people. But I believe the FDA also kills many sick people by preventing them from having access to potentially helpful pharmaceuticals at a crucial point in their illnesses. Critically ill people should not have their deaths dictated by FDA bureaucrats and doctors who enjoy the power of with-holding these medicines under the lofty guise of "scientific protocol". I do understand the need for the scientific method and hence placebos. I have no problem with that in people who are not end- stage. I will continue to lobby our congression reps for access to experimental medicines for the severely ill. (2) ===== excerpts from the Rare Disease Database (via CompuServe) ========== Welcome to NORD Services/Rare Disease Database. The National Organization for Rare Disorders (NORD) is a non-profit, voluntary health agency dedicated to the identification, control and cure of rare "Orphan Diseases." The Rare Disease Database, developed and maintained by NORD, is funded by the Generic Pharmaceutical Industry Association (GPIA) with additional aid from the Pharmaceutical Manufacturers Association (PMA), REVCO Drug Stores Foundation, the Robert Leet and Clara Guthrie Patterson Trust, March of Dimes Birth Defects Foundation, and the Hugh J. Anderson Foundation. NORD also wishes to gratefully acknowledge the invaluable assistance provided by PaperChase (MEDLINE). Every effort has been made to keep the database up- to-date and accurate. However, new scientific information about rare disorders is developing rapidly, particularly in genetic sciences. Therefore, it is essential that you refer to the "Resources" section of each disease entry to obtain the names and addresses of other agencies, organizations or clinics who can provide further in-depth assistance to people with each rare disorder. Under no circumstances should this be used as a diagnostic database. For further information about the Rare Disease Database or other NORD services, please leave a message in feedback (RDB 6) or contact: The National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812, (203) 746-6518 NORD Services 1 National Organization for Rare Disorders (NORD) 2 Rare Disease Database 3 Newsletters 4 Prevalent Health Conditions/Concerns 5 AIDS Update 6 Orphan Drug Database 7 PaperChase (MEDLINE) 8 Networking Permission Form Synonyms -------- ALS Lou Gehrig's Disease Gehrig's Disease Motor Neuron Disease Amyotrophic Lateral Sclerosis-Polyglucosan Bodies Motor System Disease (Focal and Slow) Aran-Duchenne Muscular Atrophy DISORDER SUBDIVISIONS: Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy (Kugelberg-Welander Disease) Progressive Bulbar Palsy Benign Focal Amyotrophy Primary Lateral Sclerosis (Upper Motor Neuron Disease) Infantile Spinal Muscular Atrophy (Werdnig-Hoffman Disease, Wohlfart- Disease Kugelberg-Welander Disease and Floppy Infant Syndrome) Information on the following diseases can be found in the Related Disorders section of this report: Primary Lateral Sclerosis Kugelberg-Welander Syndrome Focal Motor Neuron Disease Progressive Bulbar Palsy Progressive Muscular Atrophy Pseudobulbar Palsy Benign Focal Amyotrophy Amyotrophic Lateral Sclerosis (ALS) is a disease of the skeletal muscle nerve cells (motor neurons). This disorder generally affects both upper and lower motor neurons resulting in muscular weakness and the progressive wasting of muscles that have lost their nerve supply. There are a number of different forms of Amyotrophic Lateral Sclerosis and other motor neuron diseases with similar symptoms. These include: Slow Motor Neuron Disease, Focal Motor Neuron Disease, Spinal Muscular Atrophy (Kugelberg-Welander Disease and Juvenile Spinal Muscular Atrophy), Progressive Bulbar Palsy, Benign Focal Amyotrophy, Primary Lateral Sclerosis, Infantile Spinal Muscular Atrophy (Werdnig-Hoffmann Disease), Wohlfart- Kugelberg-Welander Disease, and Floppy Infant Syndrome. (For more information on these disorders, choose "Motor Neuron," "Primary Lateral Sclerosis," "Werdnig-Hoffman," and "Kugelberg- Welander" as your search terms in the Rare Disease Database.) Therapies: Standard -------------------- The treatment of Amyotrophic Lateral Sclerosis generally requires a team approach and may include physicians, physical therapists, speech pathologists, pulmonary therapists, medical social workers, and nurses. Several drugs are used to alleviate the symptoms of Amyotrophic Lateral Sclerosis. Baclofen may reduce muscle spasms in some patients. Patients troubled by leg cramps may benefit from quinine compounds. The uncontrolled twitching of small muscles (fasciculations), which may interfere with sleep, may respond to the administration of muscle relaxant drugs such as diazepem. Some ALS patients, who have a defect in the transmission of nerve impulses in the area where nerves and muscles meet (neuromuscular junction), may temporarily feel stronger while taking pyridostigmine. It is essential that people with Amyotrophic Lateral Sclerosis maintain proper nutrition. It has been shown that vitamin therapy does not affect the course of Amyotrophic Lateral Sclerosis. Soft foods should be carefully chosen for patients who have difficulty swallowing (dysphagia). Physical therapy is very important and should consist of daily range-of-motion exercises. These exercises can help maintain the flexibility of affected joints and prevent the fixation of muscles (contractures). Communication devices can be useful for patients with Amyotrophic Lateral Sclerosis who have difficulty speaking (dysarthria); these devices may include the use of codes involving eye movement (extraocular). For those patients who are able to use their hands, the use of written messages, typing, or the use of small computers with artificial speech articulation may help to combat feelings of isolation. Respiratory aids are often needed in advanced stages of Amyotrophic Lateral Sclerosis. Portable breathing machines can be attached to wheelchairs to help patients maintain mobility. Therapies: Investigational --------------------------- There is extensive ongoing research on the cause and treatment of Amyotrophic Lateral Sclerosis. This research is in the areas of nerve growth factors, axonal transport, androgen receptors in motor neurons, alterations in DNA and RNA, and metabolic studies of the neuromuscular junction. Some evidence suggests that defective metabolism of the amino acid, glutamate, may be responsible for degeneration of the nerve cells in the muscles of patients with Amyotrophic Lateral Sclerosis. Scientists are studying the "building blocks of proteins" (amino acids) to determine if they can prevent the toxic effects of glutamate. The amino acids that are being studied include L-leucine, L-isoleucine, and L-valine. Other scientists are studying the orphan drug L-threonine (Threostat), which may increase the amino acid glycine (an inhibitory neurotransmitter); this might "neutralize" the excess glutamate found in patients with Amyotrophic Lateral Sclerosis. The long term safety and effectiveness of these experimental treatments must be assessed before they are recommended for Amyotrophic Lateral Sclerosis patients. In 1990 Dr. Rup Tandan of the University of Vermont, Burlington, VT, received a grant award from the FDA's Office of Orphan Product Development for his work on L-threonine and Branched Chain Amino Acids in Amyotrophic Lateral Sclerosis. The orphan drug Insulin-Like Growth Factor-1 (Myotrophin) is being investigated as a treatment for patients with Amyotrophic Lateral Sclerosis. The drug is made by Cephalon, Inc., 145 Brandywine Parkway, West Chester, PA, 19380. More study is needed to determine the longterm safety and effectiveness of this drug as a treatment for this disorder. The orphan drug Human Ciliary Neurotrophic Factor is also being tested as a treatment for people with Amyotrophic Lateral Sclerosis. The drug is manufactured by Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY, 10591. Clinical studies are underway to determine the safety and effectiveness of this drug. Genetic research is underway on the hereditary form of Amyotrophic Lateral Sclerosis (ALS) to determine the role of the gene that causes this disorder. Once scientists understand the substance that this gene is supposed to manufacture, research on new treatments may be possible. The orphan drug Riluzole is being tested for the treatment of ALS. The drug is sponsored by Rhone-Poulenc Rorer Pharm. of Collegeville, PA. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources --------- For more information on Amyotrophic Lateral Sclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Amyotrophic Lateral Sclerosis Society 21021 Ventura Blvd., Suite 321 Woodland Hills, CA 91364 (818) 340-7500 For the childhood forms of Motor Neuron disease: Families of Spinal Muscular Atrophy P.O. Box 1465 Highland Park, IL 60035 (708) 432-5551 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References ---------- THE MERCK MANUAL 16th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1992. P. 1512. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 71-72. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2141-2142. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor- In-Chief; Blackwell Scientific Publications, 1990. Pp. 110-111. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 935-935, 953-954. AMYOTROPHIC LATERAL SCLEROSIS: H. Mitsumoto; Arch Neurol (Feb. 1988; 45). Pp. 189-202. MOTOR NEURON DISEASE (AMYOTROPHIC LATERAL SCLEROSIS). D.B. Williams; Mayo Clin Proc (Jan. 1991; 66(1)). Pp. 54-82. L-THREONINE AS A SYMPTOMATIC TREATMENT FOR AMYOTROPHIC LATERAL SCLEROSIS (ALS). J.B. Roufs; Med Hypotheses (Jan. 1991; 34(1)). Pp. 20-23. Please consult PaperChase, the MEDLINE database of references to the biomedical literature, to search for the most recent information on Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease). PaperChase may be accessed by keying GO PCH at any prompt in the Information Services or off the NORD Services Menu. == end of als 70 ==