Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder

NCT05374616 | Recruiting

• 1 other identifier: H-43240
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

The study aims to establish a biorepository of individuals with TANGO2 deficiency to support scientific research and establish a comprehensive clinical database of affected individuals to understand the disease course.

Conditions

TANGO2-related Disorder

Outcome Measures

Primary Outcomes (1)

• Number of participants with metabolic and cardiac crisis assessed by the number of hospitalizations

  Detailed interview with participants and review of medical records will be used to assess the frequency and triggers of metabolic and cardiac crises

  10 years

Study Arms (1)

Individuals with TANGO2 deficiency

Individuals with TANGO2 deficiency known to have disease causing variants in TANGO2

Genetic: Observation

Interventions

Observation GENETIC

Retrospective and prospective Natural History Study

Individuals with TANGO2 deficiency

Eligibility Criteria

• Age: 0 Days+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals with TANGO2-related disorder with any of the following conditions will be recruited: Recurrent rhabdomyolysis, cardiac arrhythmias, muscle weakness, ataxia, progressively unsteady gait, intellectual disability, hypothyroidism, and seizures.

You may qualify if:

• All patients with pathogenic TANGO2 variants will be included.

You may not qualify if:

• Patients who do not have TANGO2-related disease will be excluded.

Sponsors & Collaborators

• Baylor College of Medicine: lead

Study Sites (1)

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Related Publications (7)

• Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.

  PMID: 26805781 BACKGROUND

• Miyake CY, Burrage L, Glinton K, Houck K, Hoyos-Martinez A, Graham B, Yang Y, Rawls-Castillo B, Scaglia F, Soler-Alfonso C, Lalani SR. TANGO2 Deficiency. 2018 Jan 25 [updated 2023 Mar 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK476443/

  PMID: 29369572 BACKGROUND

• Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C, Muhlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.

  PMID: 26805782 BACKGROUND

• Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis. 2021 Mar;44(2):426-437. doi: 10.1002/jimd.12312. Epub 2020 Sep 21.

  PMID: 32909282 BACKGROUND

• Berat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Warde MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28.

  PMID: 32929747 BACKGROUND

• Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ. Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA). Pediatr Neurol. 2021 Jun;119:34-39. doi: 10.1016/j.pediatrneurol.2021.02.011. Epub 2021 Mar 8.

  PMID: 33845444 BACKGROUND

• Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. Mitochondrial dysfunction associated with TANGO2 deficiency. Sci Rep. 2022 Feb 23;12(1):3045. doi: 10.1038/s41598-022-07076-9.

  PMID: 35197517 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood, saliva, skin fibroblasts

MeSH Terms

Interventions

Observation

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 10, 2022
• First Posted: May 16, 2022
• Study Start: May 18, 2018
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: October 1, 2025

Record last verified: 2025-09

Locations

US (1)