SADDLE, Study Assessment of Disease Progression of X-Linked ALD in Male Children, is a study to evaluate disease status in children who have been diagnosed with X-ALD. The study aims to define disease status and factors affecting the disease progression over time. This will help future studies testing investigational drugs or procedures that may affect X-ALD.
Participants in the study will be informed of any new study NeuroVia is planning to conduct in the future. The data obtained from this study will be used to advance the understanding of X-ALD.
The study will involve the collection of medical information relevant to X-ALD. This includes medical records from visits to the doctor, lab test results, and brain imaging results. Most of the information collected will already be completed by a standard-of-care visit to the doctor. There are some procedures that may be unique to this study and are collected every 6 months. These include blood tests and brain imaging tests (if not already conducted at a regular doctor’s visit). The study requires visits to the doctor every 6 months.
If you agree to participate in this study, medical information about your disease will be collected. You will also be asked to have the following procedures completed every 6 months:
- Have blood samples collected
- Have brain Magnetic Resonance Imaging (MRI)
- Have brain Magnetic Resonance Spectroscopy (MRS) performed
- Have tests of your heart function and vital signs (blood pressure, heart rate, and breathing rate)
- Have neurological and eye exams performed
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that can damage the nervous system and adrenal glands.
X-ALD is a genetic disease caused by the mutation of a gene located on the X chromosome. Since males carry only one copy of the X-chromosome, mutation of genes on the X-chromosome may have a much greater impact in males compared with females who have two X-chromosomes and may therefore have a normal copy of the gene maintaining at least some degree of functionality.
The affected gene is called the ABCD1 gene and its function is to facilitate the breakdown (metabolism) of certain fatty acids known as very long chain fatty acids (VLCFA). When the gene is not working, abnormal accumulation of VLCFA happens in cells, especially in adrenal glands and the nervous system, and causes damage.
The red box in the image below indicates patients targeted for the SADDLE study (NV1205-008).
CCALD: Childhood Cerebral Adrenoleukodystrophy
HSC: Hematopoietic stem cell
Male subjects between 2-13 years of age with a confirmed diagnosis of X-ALD and meet one of the following criteria may participate:
Patients without neurological symptoms whose MRIs do not show cerebral involvement
Patients with MRIs showing cerebral involvement (Loes score of at least 0.5), with or without neurological symptoms
Patients who have received a hematopoietic stem cell transplant in the last three months
How Long Will the Study Last?
Your participation in the study will last for as long as you are willing to participate, or if your doctor does not think it is in your best interest to continue in the study. There are other appropriate reasons for stopping the study that your study doctor can discuss with you.
You may not directly benefit from taking part in this study. Your participation in this study may benefit you, your family, the community, scientists, and doctors by providing increased knowledge and information about the treatment and progression of your disease.
The risks of this study include the standard risks involved for blood draws and performing MRI. Since this study does not offer a treatment, there are no safety concerns due to receiving an investigational drug.
For more information on the study visit:
If you or someone you know would like more information about this study please contact
Current Planned Study Locations
Various locations in the United States of America
This website contains information related to general medical conditions and is provided for educational purposes only. It is not intended to replace discussions with a healthcare provider. All decisions regarding patient care must be made with a healthcare provider, considering the unique characteristics of the patient.
The study described here investigates treatments or outcomes that have not received regulatory approval from a health authority. The information presented here is not meant to convey conclusions of safety or effectiveness. There is no guarantee that the outcome of this trial will result in approval by a regulatory authority.