Fanconi syndrome future or investigational therapies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.

Overview

Some of the recently introduced strategies in the management of Fanconi syndrome are provided below; of note, due to various underlying mechanisms leading to the disease, researches are on in this field[1].

  • In a rare variant of Fanconi syndrome named Fanconi reno-tubular syndrome 1 (FRTS1), the patients have fatty acid oxidation problem due to a mitochondrial defect; dequalinium chloride (DECA) which s a newly introduced drug for hyperoxaluria[2] has appeared to be effective in treatment of this syndrome by not permitting the import of unfunctional mutated protein[1].
  • In other types of mitochondrial defects leading to Fanconi syndrome, it is of recently proposed that enhancement of this protein import by the drug sodium pyrithione can alleviate the disease[3].
  • Consumption of different anti-oxidants has shown promising results in the treatment of Fanconi syndrome with fatty acid oxidation defects[4].
  • It has been shown that Anti-apoptotic drugs are also very effective in Fanconi syndrome variants with cell apoptosis as a leading mechanism like tyrosinemia and cystinosis and [1][5].
  • Stimulation of mammalian target of rapamycin complex 1 (mTORC1), an important regulator protein in cell autophagy and lipid metabolism[6], by specific aminoacids or kinases[7] is also recently proposed as a potential therapeutic approach for Fanconi syndrome[1].
  • RNA silencing therapies are just recently introduced treatments targeting the down-regulation of disease genes with dominant inheritance[8] and for instance the regulator microRNA mir21 is proposed to be investigated as a therapeutic target for some variants of Fanconi syndrome[1].

Fanconi syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study Of Choice

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi syndrome future or investigational therapies On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi syndrome future or investigational therapies

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi syndrome future or investigational therapies

CDC on Fanconi syndrome future or investigational therapies

Fanconi syndrome future or investigational therapies in the news

Blogs on Fanconi syndrome future or investigational therapies

Directions to Hospitals Treating Fanconi syndrome

Risk calculators and risk factors for Fanconi syndrome future or investigational therapies

References

  1. 1.0 1.1 1.2 1.3 1.4 Enriko Klootwijk, Stephanie Dufek, Naomi Issler, Detlef Bockenhauer & Robert Kleta (2016)Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome,Expert Opinion on Orphan Drugs, 5:1, 45-54, DOI: [10.1080/21678707.2017.1259560]
  2. Miyata N, Steffen J, Johnson ME, Fargue S, Danpure CJ, Koehler CM (2014). "Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1". Proc Natl Acad Sci U S A. 111 (40): 14406–11. doi:10.1073/pnas.1408401111. PMC 4210028. PMID 25237136.
  3. Aiyar RS, Bohnert M, Duvezin-Caubet S, Voisset C, Gagneur J, Fritsch ES; et al. (2014). "Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders". Nat Commun. 5: 5585. doi:10.1038/ncomms6585. PMC 4284804. PMID 25519239.
  4. Hall AM, Schuh CD (2016). "Mitochondria as therapeutic targets in acute kidney injury". Curr Opin Nephrol Hypertens. 25 (4): 355–62. doi:10.1097/MNH.0000000000000228. PMID 27166518.
  5. Kubo S, Sun M, Miyahara M, Umeyama K, Urakami K, Yamamoto T; et al. (1998). "Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors". Proc Natl Acad Sci U S A. 95 (16): 9552–7. PMC 21376. PMID 9689118.
  6. Grahammer F, Ramakrishnan SK, Rinschen MM, Larionov AA, Syed M, Khatib H; et al. (2017). "mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells". J Am Soc Nephrol. 28 (1): 230–241. doi:10.1681/ASN.2015111224. PMC 5198276. PMID 27297946.
  7. Dodd KM, Tee AR (2012). "Leucine and mTORC1: a complex relationship". Am J Physiol Endocrinol Metab. 302 (11): E1329–42. doi:10.1152/ajpendo.00525.2011. PMID 22354780.
  8. Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM; et al. (2008). "Allele-specific silencing of the dominant disease allele in sialuria by RNA interference". FASEB J. 22 (11): 3846–52. doi:10.1096/fj.08-110890. PMC 2574030. PMID 18653764.