X-linked adrenoleukodystrophy (X-ALD) is an inherited condition that affects the brain, nervous system, and adrenal glands due to a variant in the ABCD1 gene. People with X-ALD have problems metabolizing certain type of fats called very long chain fatty acids (VLCFAs).
Newborn screening detects potential X-ALD patients by looking for elevations of VLCFAs in the blood sample. If positive, the child will likely then go on for genetic confirmation of the disease. Newborn screening for X-ALD is being conducted in 38 states and the District of Columbia in the US.
What is the Program?
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to qualifying patients to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) and other disorders within the states offering X-linked adrenoleukodystrophy (X-ALD) newborn screening programs.
Testing will be offered to children who screened positive for X-ALD on initial state newborn screen but negative for disease after further laboratory testing.
Patients must meet ONE of the criteria below:
Order the test and collect a blood specimen and ship them to the lab.
Program Information
This program is designed to identify peroxisomal disorders, including Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD), especially in children who initially screened positive for X-ALD in state newborn screening programs but were negative upon further testing.
Eligibility includes children who screened positive for elevated VLCFAs (very long-chain fatty acids) during X-ALD newborn screening but were negative for X-ALD upon subsequent testing, and their blood relatives.
The test includes a panel of genes associated with peroxisomal disorders, focusing on comprehensive genetic analysis to provide a clear diagnosis, enhancing understanding and management of the condition.
The testing strategy offers high clinical sensitivity, with the sequencing panel predicted to detect over 95% of DNA substitutions and pathogenic variants, offering reliable insights into peroxisomal disorders.
Healthcare providers can order blood collection kits directly from the program’s webpage, collect samples from eligible individuals, and send them to PreventionGenetics for analysis.
Results are sent back to the ordering healthcare provider approximately three weeks after the laboratory receives the specimens, allowing for timely consultation and discussion with the patient or caregiver about potential treatment and management strategies.
Mirum Pharmaceuticals, Inc. is a biopharmaceutical company dedicated to transforming the treatment of rare diseases affecting children and adults. Mirum has three approved medications: LIVMARLI® (maralixibat) oral solution, Cholbam® (cholic acid) capsules, and Chenodal® (chenodiol) tablets.
LIVMARLI, an IBAT inhibitor, is approved for the treatment of cholestatic pruritus in patients with Alagille syndrome in the U.S. (three months and older), in Europe (two months and older), and in Canada. Mirum has also submitted LIVMARLI for approval in the U.S. in cholestatic pruritus in PFIC patients three months of age and older and in Europe in PFIC for patients two months of age and older. Cholbam is FDA-approved for the treatment of bile acid synthesis disorders due to single enzyme defects and adjunctive treatment of peroxisomal disorders in patients who show signs or symptoms or liver disease. Chenodal has received medical necessity recognition by the FDA to treat patients with cerebrotendinous xanthomatosis (CTX).
Mirum’s late-stage pipeline includes two investigational treatments for debilitating liver diseases. Volixibat, an IBAT inhibitor, is being evaluated in two potentially registrational studies including the Phase 2b VISTAS study for primary sclerosing cholangitis and Phase 2b VANTAGE study for primary biliary cholangitis. Lastly, Chenodal, has been evaluated in a Phase 3 clinical study, RESTORE, to treat patients with CTX, with positive topline results reported in 2023.
To learn more about Mirum, visit mirumpharma.com and follow Mirum on Facebook, LinkedIn, Instagram and Twitter.
