Sisters’ Hope Foundation would like to thank https://www.alspinfo.com/ for their research and for being the source of the information below.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurological disease caused by an autosomal dominant genetic mutation in the CSF1R gene (colony-stimulating factor 1 receptor).
ALSP was previously known as two diseases: hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). After the discovery of the gene mutation, these two diseases have become known as one entity: ALSP.
ALSP is one of a group of adult-onset leukodystrophy disorders. Because it is a rare disease, the actual number of cases are unknown.
Symptoms of ALSP
Everyone’s journey with ALSP is different. ALSP can present with different symptoms within the same family. The course of ALSP can range from 2 to over 30 years.
ALSP is a progressive disease that is characterized by issues with judgment, personality and psychological changes, and problems with movement.
It is important for people with ALSP to build a support system including family, friends, caregivers, advocacy organizations, and medical professionals to help navigate their symptoms and improve their quality of life.
Symptoms often begin with mild psychological changes and eventually develop into loss of movement and overall function. Early signs of ALSP can be very hard to distinguish from other neurological disorders. These symptoms usually include poor judgment, depression, personality changes, and limited movement problems. As ALSP progresses, the disease can lead to mental decline, severe depression, apathy, anxiety, irritability, and dementia.
Other symptoms of advanced ALSP include problems sensing vibration, body position, touch, and pain. Some individuals may also have seizures.
Because ALSP is a progressive disease, movement problems will usually develop over time and include Parkinsonian tremor, rigidity, slow movements, and problems sitting or standing. While rare, some people with ALSP may develop stroke-like symptoms and problems with their bones or eyes.
Final stages of ALSP include loss of speech and voluntary motor movement, development of a vegetative state and death. New experimental treatments may help slow or stop the disease.
ALSP can progress quickly. Many of the initial symptoms can be misdiagnosed as other neurological disorders.
Symptoms of ALSP can overlap with other neurological conditions, and genetic testing for the CSF1R mutation can confirm an ALSP diagnosis. In addition to genetic testing, an MRI can verify lesions in the brain caused by the loss of myelin, a protective layer for brain cells, around neurons (brain cells). CT scans can detect other abnormal areas in the brain.
There are currently no FDA-approved treatments for ALSP. Those who have it experience a wide range of symptoms. Several existing medications are being used off-label to treat ALSP symptoms. The term “off-label” means the medication is being used in a manner not specified in the FDA’s approved packaging label or insert. Some of these medications include anti-depressants, muscle relaxers, anti-epileptic medications for patients with seizures, and antibiotics for patients that develop pneumonia and urinary tract infections.
Physical therapy may be used to help with movement and muscle problems that result from ALSP. For any genetic disease, psychological and genetic counseling are commonly recommended to cope with mental and physical symptoms as well as the potential risk of inheritance of ALSP in other family members.
In some cases, bone marrow transplants are possible. See Clinical Trials for more details.ALSP Statistics
Clinical Trials for ALSP
Observational – Natural History Study
Vigil Neuroscience is conducting an observational natural history study with ALSP patients to better understand the disease and help inform the clinical development of VGL101. For more information visit https://alspstudy.com/ or visit clinical trials.gov HERE.
If you or a loved one would like to learn more about the studies, please email email@example.com.
Bone Marrow Transplant
Masonic Cancer Center, University of Minnesota – Minneapolis, Minnesota https://clinicaltrials.gov/ct2/show/NCT02171104?cond=CSF1R&draw=3&rank=17
Mayo Clinic – Jacksonville, Florida https://clinicaltrials.gov/ct2/show/NCT04503213?cond=CSF1R&draw=2&rank=1
Observational – Patient Registry
What are patient registries and why are they so important in rare disease research?
A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients.
In rare disease research, registries play an important role in the therapy development pathway. In fact, registries can:
• Identify participants for clinical trials.
• Help develop care standards, to help improve the care people receive.
• Support specific research questions.
• Provide information for doctors and scientists to learn more about rare diseases.
• Represent a link between patients and the research community, providing the opportunity for people to receive information directly relevant to their condition (for example, through newsletters).
The Myelin Disorders Biorepository Project: https://clinicaltrials.gov/ct2/show/NCT03047369?cond=POLD&draw=4&rank=9
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
Vigil and the Sisters’ Hope Foundation are proud to announce the launch of the ALSP Registry app. Patients and family members can take action to help researchers learn more about ALSP.
At Sisters’ Hope Foundation, we are encouraging ALSP patients and CSF1R carriers to participate in this registry to enable the scientific community to learn more about ALSP, in the hope that the results will provide information to improve future treatment.
The ALSP Registry is live in the US, UK, Netherlands and Germany. If you are affected by ALSP or a family member of someone who is, please join the study. Information collected may help to develop new treatments for those with ALSP. Join using the QR code for the study app or follow these links;
For Android, please register here: https://bit.ly/3MVpwSC
For Apple, please register here: https://apple.co/39oDy1e