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Also known as:inborn error of thyroid hormone metabolic processinborn thyroid hormone metabolic process disorderinherited disorder of thyroid metabolism
Overview
An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.
Diagnosis
Biomarker and diagnostic research for inherited thyroid metabolism disease has been reported in the published literature.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for inherited thyroid metabolism disease.
68 publications have been identified in PubMed for inherited thyroid metabolism disease. Kisho has analyzed 43 by research type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (19%).
Research Type
Count
% of Total
Research summaries
14
33%
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
The U.S. Food and Drug Administration ... a novel gene therapy developed by Ultragenyx Pharmaceutical Inc. designed to combat Sanfilippo syndrome type A, a devastating rare neurological disorder. Sanfilippo syndrome type A, also known as mucopolysaccharidosis type III A (MPS IIIA), is a progressive and fatal inherited metabolic disease. Children born with this condition lack the necessary enzymes to break down complex sugars within their cells... The U.S. Food and Drug Administration (FDA) has granted approval for Fayuvi, a novel gene therapy developed by Ultragenyx Pharmaceutical Inc. designed to combat Sanfilippo syndrome type A, a devastating rare neurological disorder. Sanfilippo syndrome type A, also known as mucopolysaccharidosis type III A (MPS IIIA), is a progressive and fatal inherited metabolic disease. Children born with this condition lack the necessary enzymes to break down complex sugars within their cells. FDA approved Fayuvi gene therapy for Sanfilippo syndrome type A in children two and older, showing slowed cognitive decline despite high cost concerns. The treatment employs a viral vector engineered to deliver a functional copy of the gene responsible for producing the deficient enzyme directly into the patient's cells. The therapeutic objective is to restore, at least partially, the body's ability to metabolize cellular waste, thereby aiming to slow or halt the disease's relentless progression. This metabolic breakdown leads to a relentless accumulation of cellular debris, resulting in severe neurological damage. The consequences for affected children are stark: progressive cognitive decline, loss of acquired speech, motor impairments, and typically, a lifespan that does not extend beyond adolescence. Fayuvi represents a significant advancement, utilizing a sophisticated gene therapy approach.
Fayuvi was granted orphan drug and fast track, and breakthrough therapy designations. U.S. Food and Drug Administration [email protected] +1 202-690-6343 17, 2026 (GLOBE NEWSWIRE) -- The U.S. Food and Drug Administration today approved Fayuvi (rebisufligene etisparvovec-hopf), the first treatment for pediatric patients with mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome type A., MPS IIIA is a rare inherited disease that progressively damages the brain and nervous system, causing children to lose cognitive, language and other developmental abilities over time.
Initially advancing therapeutic programs in inherited metabolic diseases with high unmet medical need, Genespire is a spin-out of SR-Tiget, a world leading cell and gene therapy research institute. Find out more about us at www.genespire.com. ... MMA is a rare, genetic metabolic disorder most ... Initially advancing therapeutic programs in inherited metabolic diseases with high unmet medical need, Genespire is a spin-out of SR-Tiget, a world leading cell and gene therapy research institute. Find out more about us at www.genespire.com. ... MMA is a rare, genetic metabolic disorder most frequently caused by a faulty gene coding for the mitochondrial enzyme methylmalonyl-coA mutase (MUT). MILAN, July 8, 2026 /PRNewswire/ -- Genespire, in collaboration with researchers at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), has today announced the publication of preclinical data supporting the potential of its liver-directed immune-shielded lentiviral gene therapy approach to treat methylmalonic acidemia (MMA), a severe inherited metabolic disorder. The findings, published in the Journal of Hepatology, show that a single systemic administration of a lentiviral vector encoding the MMUT gene led to sustained improvements in disease features in a validated mouse model of MMA, with effects lasting for the average lifespan of laboratory mice. In the study, researchers also treated mice with a dose containing an optimized MMUT transgene, thereby improving therapeutic efficacy. In the same mouse model of MMA, this version exhibited a dose-dependent improvement of metabolomic biomarkers, with gene transfer efficiency exceeding 80% of the liver. The study also highlights that genetically corrected cells in the liver may, over time, replace the diseased ones, suggesting that therapeutic efficacy may progressively improve even when starting at lower initial doses. Persons with this condition are unable to break down and use certain proteins and fats found in food and, as a result, circulating methylmalonic acid accumulates in the body, causing damage to the brain, liver, kidneys, and other organs. At present there are no disease-targeted drugs approved for MMA, and affected patients suffer high levels of morbidity and have a heavily reduced life expectancy. About San Raffaele Telethon Institute for Gene Therapy (SR‑TIGET)
