About ALD (Adrenoleukodystrophy)
“ALD is a neurodegenerative disease.”
ALD is an abbreviation for adrenoleukodystrophy.
ALD is a progressive disease with dysfunction in cerebral white matter and the adrenal gland, which is a small organ on the kidney. There is the possibility that ALD could occur at any age. The progression of the disease considerably varies from person to person. Even though a baby is born alive and kicking, and grows up healthy, he may develop ALD along with the accompanying symptoms of academic decline, loss of visual acuity, difficulty in speaking, and gait impairment. The boy will become bedridden or will die less than one year after symptom onset of ALD, in cases of rapid progress of the disease.
“ALD is a genetic disease that develops mainly in men.”
ALD occurs by mutation of a gene constituting the blueprint of the human body. It is said that a person has on average more than 10 gene mutations that are responsible for severe diseases. However, as almost all genes exist as pairs (one gene being derived from the father and the other from the mother), symptoms will not be produced unless both genes mutate. In the case of ALD, the responsible gene exists on the X-chromosome composing the sex chromosome. The mutation in the ALD gene is profound for males because the male has only one X-chromosome. On the other hand, in the case of females, mutation of the one gene does not cause the disease since the female has two X-chromosomes. The female with one mutated gene is called a carrier.
“Early detection of ALD leads to a significant therapeutic effect.”
There are effective treatments, but the treatments are only effective for patients in the early stages. If the treatments are not provided immediately after onset of the disease, the patient develops disabilities which result in death. Now, there is significant progress in the research about diagnostic techniques (screening examination) for ALD before the onset. Neonatal screening for ALD has started in some states in the U.S.
“Open up a bright future for people with ALD by your help.”
There is currently no system to discover ALD patients in an early stage in most countries including Japan. Therefore, most patients can only be diagnosed with ALD after the disease progresses to a certain extent. Even though a baby is born alive and kicking, and grows up healthy, he may develop ALD along with several other problems. ALD patients are sometimes looked at with a jaundiced eye. Their life with problems is inconvenient, but they can all have a bright future by a better understanding of their disease and problems, and a little bit of your help.
・ Study session
・ Screening session
・ Exchange meeting
・ Lecture meeting
・ Telephone support
This association, commonly called “A-Future,” “The Association for Shaping the Future of People with ALD” makes efforts to navigate the future for patients suffering from ALD. It is a specified Non-profit Organization (NPO), and was incorporated in April 2012 after ten years’ of activity as the voluntary group, “The Association for Parents of Children with ALD.”
We contribute to improve QOL of patients with rare inherited metabolic diseases including ALD and lysosome storage diseases together with analysis of their pathogenesis and the development of a therapeutic procedure through (1) collection and supply of information to improve QOL of the patients and their families, (2) various supports including care support and psychological care, (3) educational activities for government, medical institutions and companies, (4) exchange of information and building of a network association for research. We support patients and their families based on the following six action plans.
・ Collection and delivery of information about inherited metabolic diseases including ALD and lysosome storage diseases
Schedule for study sessions and exchange meetings, participation in academic meetings and seminars, etc.
・ Support of patients with inherited metabolic diseases including ALD and lysosome storage diseases
Questionnaire to understand the situations of patients’ families Listening to patients and their families by telephone and mail
・ Educational activities to increase public awareness of ALD
Distribution of the leaflets, installation of donation boxes, providing information through web pages, our blog and Facebook
・ Support of Research Association and Medical Institutes which conduct research activities to elucidate the exact nature of inherited metabolic diseases including ALD and lysosome storage diseases, and construction of a new comprehensive network
A-Future cooperates with the Japanese Society for Inherited Metabolic Diseases in the registration of patients with inherited metabolic diseases, including ALD, using the system called JaSMIn in order to investigate the questions below. (“JaSMin” is the abbreviation for the Japan Registration System for Metabolic and Inherited Diseases run by the society above.)
How and where does the patient live?
What are the problems with therapeutics at present?
What kinds of care and medical treatments are needed?
This system was developed by Dr. Torayuki Okuyama from National Center for Children Health and Development as a project of Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan. At present, the system cooperates with Japanese Society for Inherited Metabolic Diseases.
Please visit our web site, Japanese Society for Inherited Metabolic Diseases, for more information.
・ Publishing books about inherited metabolic diseases including ALD and lysosome storage diseases
・ Additionally, we participate in required activities to achieve our goal
Director of Lysosome Disease Center and Department of Clinical Laboratory Medicine, National Center for Children Health and Development/Vice President of Japanese Society for Inherited Metabolic Diseases
Professor and Principle Investigator of Department of Genetics and Genome Science, The Jikei University School of Medicine/Director of Research Center for Asian Lysosome Disease, Advanced Clinical Research Center, Institute of Neurological Disorders
Professor of Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine
Hospital director of Tokyo Metropolitan Tobu Medical Center for Children/Adults with Developmental Disabilities
Professor of Department of Health Science, Child Healthcare and Genetic Science, Osaka University Graduate School of Medicine
Professor of Division of Genomics Research, Life Science Research Center, Gifu University
Professor of Tutorial Division, Medical Education Development Center, Gifu University
Specially Appointed Professor of Department of Neurology, Graduate School of Medicine, The University of Tokyo
Special Advisor of Tokyo Pediatric Rehabilitation Hospital
Professor of Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine
2000 Inauguration of “The Association of Parents of Children with ALD” based on the list of patients called “Network of Lorenzo’s Oil”
2006 First exchange meeting with adviser doctors and five patients’ families from all over the country in Nagoya
2007 First study session with 20 patients’ families in The Jikei University School of Medicine. Following this, the holding of a study session with patients’ families in every summer
2010 10th anniversary of “The Association of Parents of Children with ALD”
Preparation to establish a non-profit organization (NPO)
2011 Inauguration of a preparatory committee to establish the NPO
2012 April Establishment of the specified NPO “The Association for Shaping the Future of People with ALD” commonly called “A-Future.” Holding of the first study session as the NPO with The Jikei University School of Medicine. Following this, the yearly holding of regular study sessions across the country (Tokyo, Osaka, Nagoya, Gifu, Kagoshima, Hokkaido) and the screening of “Lorenzo’s Oil”
Present Offering the open study sessions to the public.
We actively deliver a series of lectures and seminars at medical institutes, and medical departments in universities nationwide. In addition, we have various activities, including the edification of victims of ALD, raising awareness of needs for care, and the cultivation of medical professions.
A-Future/the Association for Shaping the Future of People with ALD
specified Non-profit Organization(NPO)
2-8-34 Kitamachi, Nishitokyo-shi,Tokyo 202-0003, Japan
Phone Number: +81-42-449-1980