ADX-629 for Sjogren-Larsson Syndrome
Recruiting in Palo Alto (17 mi)
Overseen byWilliam B Rizzo, MD
Age: < 65
Sex: Any
Travel: May Be Covered
Time Reimbursement: Varies
Trial Phase: Phase 1 & 2
Waitlist Available
Sponsor: William Rizzo, MD
Must not be taking: Immunosuppressants, Corticosteroids, others
Disqualifiers: Malignancy, HIV, Cardiovascular, Renal, others
No Placebo Group
Trial Summary
What is the purpose of this trial?This trial tests if ADX-629, a medicine taken by mouth, is safe and effective for people with Sjögren-Larsson syndrome (SLS). SLS is a rare genetic disorder that causes harmful fats to build up in the body. ADX-629 helps remove these harmful fats, which may reduce symptoms in the skin, brain, and eyes.
Will I have to stop taking my current medications?
The trial requires participants to stop using all topical creams 7 days before the study and any experimental drugs 1 month before the study. If you are on immunosuppressive therapy or certain systemic or topical medications, you must be willing to stop them 2 weeks before and during the study.
Eligibility Criteria
Adults aged 18-50 with Sjogren-Larsson Syndrome (SLS), weighing at least 35 kg, able to swallow pills and follow the study plan. Participants must have ichthyosis, spasticity, a genetic confirmation of SLS, and agree to contraception if sexually active. Excluded are those in other studies, with certain health conditions or treatments that could affect results or safety.Inclusion Criteria
Subject is able to swallow oral tablet medication and is willing to adhere to the study regimen.
Subject or subject's guardian is willing to provide written informed consent prior to the initiation of any study procedures. Assent will be solicited from subjects intellectually capable of providing assent.
Subject is willing to comply with all study procedures and availability for the duration of the study
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Exclusion Criteria
Subject is currently participating in any other therapeutic clinical study.
Subject has a history of any other condition that, in the opinion of the Investigator, would compromise the subject's ability to comply with the protocol or that might compromise the subject's safety or the interpretation of the study results.
You had cancer within the last 5 years, except for certain types of skin or cervical cancer that have been treated with no sign of coming back.
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Trial Timeline
Screening
Participants are screened for eligibility to participate in the trial
2-4 weeks
Treatment
Participants receive oral ADX-629 treatment for 12 weeks to assess safety and biochemical efficacy
12 weeks
Weekly contact for adverse events, monthly in-person visits for safety monitoring
Follow-up
Participants are monitored for safety and effectiveness after treatment
4 weeks
Participant Groups
The trial is testing ADX-629's safety and effectiveness for treating SLS when taken orally for 12 weeks. It aims to reduce harmful fatty aldehydes believed to cause symptoms by trapping these molecules. The drug's impact on skin, neurological function, and eye health will also be explored.
1Treatment groups
Experimental Treatment
Group I: ADX-629 treatmentExperimental Treatment1 Intervention
Open label treatment with ADX-629
Find a Clinic Near You
Research Locations NearbySelect from list below to view details:
University of Nebraska Medical CenterOmaha, NE
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Who Is Running the Clinical Trial?
William Rizzo, MDLead Sponsor
University of NebraskaLead Sponsor
References
A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation. [2021]Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. [2020]Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States families, three Egyptian families, and one Israeli Arab family were investigated for linkage of the SLS gene to a region of chromosome 17. Pairwise and multipoint linkage analysis with nine markers mapped the SLS gene to the same region of the genome as that reported in Swedish SLS pedigrees. Examination of recombinants by haplotype analysis showed that the gene lies in the region containing the markers D17S953, D17S805, D17S689, and D17S842. D17S805 is pericentromeric on 17p. Patients in two consanguineous Egyptian families were homozygous at the nine marker loci tested, and another patient from a third family was homozygous for eight of the nine, suggesting that within each of these families the region of chromosome 17 carrying the SLS gene is identical by descent. Linkage of the SLS gene to chromosome 17p in families of Arabic, mixed European, Native American, and Swedish descent provides evidence for a single SLS locus and should prove useful for diagnosis and carrier detection in worldwide cases.
Fundus autofluorescence changes in two cases of Sjögren-Larsson syndrome. [2018]Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder characterized by the triad of intellectual disability, spastic diplegia or tetraplegia, and congenital ichthyosis with associated ocular features, which include macular glistening dots. Herein, two cases of SLS are presented and their fundus autofluorescence changes, which have not been reported so far, are described.
Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis. [2019]The Sjögren-Larsson syndrome is a rare condition characterized by ichthyosis, spasticity, and mental retardation. Patients have deficient activity of the aldehyde portion of the fatty alcohol:nicotinamide adenine denucleotide (NAD+) oxidoreductase complex.
Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder. [2012]Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS, one of whom was born from a dizygotic twin pregnancy (with an apparently normal sister), and they focus on the variability of the clinical findings of the syndrome even among siblings and twins.